AiPD: Autoinhibited Protein Database

P38646

Gene name	HSPA9 (GRP75, HSPA9B, mt-HSP70)
Protein name	Stress-70 protein, mitochondrial
Names	75 kDa glucose-regulated protein , GRP-75 , Heat shock 70 kDa protein 9 , Heat shock protein family A member 9 , Mortalin , MOT , Peptide-binding protein 74 , PBP74
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3313
EC number
Protein Class

Descriptions

HSPA8 (or hsc70) is a heat shock cognate protein involved in many cellular processes. During recovery from stress, HSPA8, initially accumulating in the nucleoplasm for folding/refolding of proteins, transiently concentrates in nucleoli for nucleolar morphology and function restoration. The inhibitory region is positioned at one of the three domains of HSPA8 protein, which is the N-terminal ATPase domain, specifically in residues 263-287 of domain IIB. Under normal growth conditions, the constitutive nucleolar targeting function that is provided by residues 225-262 is diminished by the autoinhibitory element located in residues 263-287. When cells recover from stress, the autoinhibitory element is inactivated, and the constitutive nucleolar targeting function restores.

Autoinhibitory domains (AIDs)

308-332 (Autoinhibitory region) SS

Target domain	270-307 (Nucleolar targeting region)
Relief mechanism	Others
Assay

AID

308-332 (Autoinhibitory region)

Target domain

270-307 (Nucleolar targeting region)

Relief mechanism

Others (Cell stress recovery)

Assay

Accessory elements

No accessory elements

References

Bański P et al. (2010) "Nucleolar targeting of the chaperone hsc70 is regulated by stress, cell signaling, and a composite targeting signal which is controlled by autoinhibition", The Journal of biological chemistry, 285, 21858-67

Autoinhibited structure

Activated structure

6 structures for P38646

Entry ID	Method	Resolution	Chain	Position	Source
3N8E	X-ray	280 A	A/B	439-597	PDB
4KBO	X-ray	280 A	A	52-431	PDB
6NHK	X-ray	278 A	A/B	54-429	PDB
6P2U	X-ray	200 A	A	52-431	PDB
6PMT	X-ray	230 A	A	52-431	PDB
AF-P38646-F1	Predicted				AlphaFoldDB

642 variants for P38646

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000210028 VAR_076662 rs751478142 CA212189	126	R>W	Even-plus syndrome EVPLS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_076663 CA212266 RCV000209966 rs765368797	128	Y>C	Even-plus syndrome EVPLS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000209839 rs763817505 CA351205	136	D>*	Autosomal dominant sideroblastic anemia [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs768283289 VAR_076665	212	S>P	SIDBA4; uncertain significance [UniProt]	Yes	UniProt ExAC TOPMed dbSNP gnomAD
RCV001781629 rs772570880 CA358723 RCV003407733 RCV000209995 RCV003387515	295	G>*	HSPA9-related disorder HSPA9-related condition Even-plus syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP
VAR_076666	388	G>S	SIDBA4; uncertain significance [UniProt]	Yes	UniProt
VAR_076667	415	E>K	SIDBA4; uncertain significance [UniProt]	Yes	UniProt
RCV000209862 CA353421 rs869312659	458	I>missing	Autosomal dominant sideroblastic anemia [ClinVar]	Yes	ClinGen ClinVar dbSNP
VAR_076668	458	I>del	SIDBA4 [UniProt]	Yes	UniProt
rs778666947	2	I>R		No	ExAC gnomAD
rs1226785464	2	I>V		No	gnomAD
rs370207086	3	S>N		No	ESP ExAC TOPMed gnomAD
rs753745729	3	S>R		No	ExAC TOPMed gnomAD
rs370207086	3	S>T		No	ESP ExAC TOPMed gnomAD
rs1205029053	4	A>G		No	TOPMed gnomAD
rs779889509	4	A>T		No	ExAC TOPMed gnomAD
rs750485956	5	S>N		No	ExAC TOPMed gnomAD
rs756173167	5	S>R		No	ExAC gnomAD
rs386692812	6	R>H		No	Ensembl
rs767716318	6	R>Q		No	ExAC TOPMed gnomAD
rs1464150259	7	A>P		No	TOPMed
rs762110304	7	A>V		No	ExAC TOPMed gnomAD
rs374931364	8	A>V		No	ESP ExAC TOPMed gnomAD
rs770215061	9	A>G		No	ExAC gnomAD
rs1751067414	9	A>P		No	gnomAD
rs770215061	9	A>V		No	ExAC gnomAD
rs760163837	10	A>V		No	ExAC TOPMed gnomAD
rs772593140	11	R>H		No	ExAC TOPMed gnomAD
COSM482010	11	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1342030367	12	L>F		No	gnomAD
rs1342030367	12	L>V		No	gnomAD
rs545544563	13	V>L		No	TOPMed gnomAD
rs545544563	13	V>M		No	TOPMed gnomAD
rs747777605	14	G>D		No	ExAC TOPMed gnomAD
rs1751066477	15	A>T		No	Ensembl
rs1751066348	17	A>G		No	TOPMed
rs767821420	17	A>T		No	TOPMed gnomAD
rs1751066234	18	S>C		No	Ensembl
rs778583393	19	R>G		No	ExAC TOPMed gnomAD
rs778583393	19	R>W		No	ExAC TOPMed gnomAD
rs1178719718	20	G>C		No	TOPMed
rs1178719718	20	G>S		No	TOPMed
rs1751065877	20	G>V		No	TOPMed
rs1035364541	21	P>L		No	TOPMed gnomAD
rs749109733	21	P>S		No	ExAC gnomAD
rs1001582519	22	T>M		No	TOPMed gnomAD
rs1751065533	23	A>T		No	TOPMed
TCGA novel	23	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1366160194	24	A>G		No	gnomAD
rs1366160194	24	A>V		No	gnomAD
rs1027342347	25	R>C		No	TOPMed gnomAD
rs1027342347	25	R>G		No	TOPMed gnomAD
rs750445193	26	H>Q		No	ExAC TOPMed gnomAD
rs41294552 RCV000899841	26	H>Y		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1180462731	27	Q>E		No	TOPMed gnomAD
rs1180462731	27	Q>K		No	TOPMed gnomAD
rs1290510071	29	S>G		No	TOPMed
rs1456362813	29	S>R		No	gnomAD
rs766899877	31	N>D		No	ExAC TOPMed gnomAD
rs1160655198	31	N>T		No	gnomAD
rs1348798517	32	G>D		No	TOPMed
rs990243511	32	G>R		No	Ensembl
rs990243511	32	G>S		No	Ensembl
rs1348798517	32	G>V		No	TOPMed
rs980380224	33	L>F		No	TOPMed
rs773861384	34	S>G		No	ExAC gnomAD
rs763648133	35	H>L		No	ExAC gnomAD
rs763648133	35	H>P		No	ExAC gnomAD
rs1455992440	35	H>Q		No	gnomAD
rs762486209	36	E>Q		No	ExAC TOPMed gnomAD
rs1751023158	38	F>L		No	Ensembl
rs745709118	39	R>G		No	ExAC
rs776645890	40	L>F		No	ExAC gnomAD
rs776645890	40	L>I		No	ExAC gnomAD
TCGA novel rs764184668	40	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs764184668	40	L>R		No	TOPMed gnomAD
rs776645890	40	L>V		No	ExAC gnomAD
rs370462289	41	V>D		No	ESP TOPMed
rs367924466	43	R>G		No	ESP TOPMed
rs747002249	44	R>Q		No	ExAC TOPMed gnomAD
rs771007168	44	R>W		No	ExAC gnomAD
rs777996876	45	D>N		No	ExAC TOPMed gnomAD
rs1350029252	47	A>P		No	gnomAD
rs2127163471	47	A>V		No	Ensembl
COSM448661	48	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1381447201	48	S>L		No	TOPMed gnomAD
rs780388892	48	S>T		No	ExAC gnomAD
rs1159773684	49	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1580752520	50	A>E		No	Ensembl
rs138260125 COSM589477 COSM6101853	51	I>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1204302163	52	K>Q		No	gnomAD
TCGA novel	54	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781689429	54	A>V		No	ExAC gnomAD
rs757783182	55	V>I		No	ExAC gnomAD
rs150186605	56	V>F		No	1000Genomes TOPMed gnomAD
rs150186605	56	V>L		No	1000Genomes TOPMed gnomAD
rs1355201956	58	I>V		No	gnomAD
rs1348943024	63	T>A		No	gnomAD
rs1201417589	64	N>S		No	TOPMed
rs147463169	67	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1561862820	69	V>I		No	TOPMed gnomAD
TCGA novel	70	M>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs971461123	70	M>T		No	TOPMed
rs1751010700	71	E>D		No	TOPMed
rs1167284703	72	G>C		No	gnomAD
rs371470221	72	G>D		No	ESP ExAC TOPMed gnomAD
rs17856004 VAR_046482	74	Q>R		No	UniProt Ensembl dbSNP
rs201580482	75	A>E		No	ExAC TOPMed gnomAD
rs201580482	75	A>G		No	ExAC TOPMed gnomAD
rs772049109	76	K>E		No	ExAC TOPMed gnomAD
rs772049109	76	K>Q		No	ExAC TOPMed gnomAD
rs750429320	81	A>D		No	Ensembl
rs1340213612	82	E>K		No	TOPMed gnomAD
COSM6101854	83	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM735532	84	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763055618	85	R>K		No	ExAC gnomAD
rs1750874479	85	R>S		No	Ensembl
rs1561861583	86	T>A		No	Ensembl
rs748256759	87	T>I		No	ExAC gnomAD
rs1750874323	88	P>H		No	TOPMed gnomAD
rs1750874183	90	V>A		No	TOPMed gnomAD
rs1280852290	90	V>F		No	TOPMed gnomAD
rs1750874124	92	A>T		No	Ensembl
rs1173718416	93	F>L		No	gnomAD
rs138636944	94	T>I		No	ESP ExAC TOPMed gnomAD
rs372123281	96	D>G		No	ESP ExAC TOPMed gnomAD
rs777051276	96	D>H		No	ExAC gnomAD
rs777051276	96	D>N		No	ExAC gnomAD
rs1580750074	98	E>G		No	Ensembl
rs760679826	99	R>*		No	TOPMed gnomAD
rs370089080	99	R>Q		No	ESP ExAC TOPMed gnomAD
rs1418177113	103	M>T		No	gnomAD
rs866432597	104	P>A		No	TOPMed gnomAD
rs778164634	104	P>L		No	ExAC TOPMed gnomAD
rs866432597	104	P>S		No	TOPMed gnomAD
rs1486281777	106	K>R		No	gnomAD
rs1283153643	107	R>L		No	TOPMed gnomAD
RCV001310522 rs1283153643	107	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1750872761	110	V>F		No	Ensembl
rs779794121	113	P>A		No	ExAC gnomAD
rs1377304917	114	N>D		No	TOPMed gnomAD
rs1750872373	114	N>I		No	Ensembl
rs1377304917	114	N>Y		No	TOPMed gnomAD
rs755811639	115	N>D		No	ExAC TOPMed gnomAD
rs750107974	115	N>S		No	ExAC TOPMed gnomAD
rs1750872052	116	T>A		No	TOPMed
rs757048009	116	T>I		No	ExAC TOPMed gnomAD
rs757048009	116	T>K		No	ExAC TOPMed gnomAD
rs1371949499	118	Y>C		No	gnomAD
rs1427781624	118	Y>H		No	gnomAD
rs1427781624	118	Y>N		No	gnomAD
COSM735533	119	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1170593231	120	T>A		No	gnomAD
rs1411268703	124	I>S		No	TOPMed gnomAD
rs1411268703	124	I>T		No	TOPMed gnomAD
rs1429897795	124	I>V		No	gnomAD
TCGA novel	125	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764026542	126	R>L		No	ExAC TOPMed gnomAD
rs764026542	126	R>Q		No	ExAC TOPMed gnomAD
COSM3975188	127	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
VAR_049622 rs35091799	127	R>G		No	UniProt Ensembl dbSNP
rs375941962	127	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs765368797	128	Y>F		No	ExAC gnomAD
rs371580409	129	D>A		No	ESP ExAC TOPMed gnomAD
rs371580409	129	D>V		No	ESP ExAC TOPMed gnomAD
COSM1061420	130	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771278536	130	D>N		No	ExAC TOPMed gnomAD
rs367742162	131	P>H		No	ESP ExAC TOPMed gnomAD
rs1234138306	132	E>K		No	gnomAD
rs1750869743	133	V>L		No	Ensembl
rs776048580	134	Q>H		No	ExAC TOPMed gnomAD
rs1750869584	135	K>E		No	Ensembl
rs1294929818	137	I>F		No	gnomAD
rs1561861488	137	I>T		No	Ensembl
rs773433521	138	K>E		No	ExAC gnomAD
rs773433521	138	K>Q		No	ExAC gnomAD
rs772628480	139	N>I		No	ExAC gnomAD
TCGA novel	139	N>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1193677198	141	P>L		No	TOPMed
rs1021914557	144	I>V		No	TOPMed gnomAD
rs1385315938	145	V>A		No	TOPMed gnomAD
rs1187476572	145	V>L		No	TOPMed gnomAD
rs775043445	146	R>C		No	ExAC TOPMed gnomAD
rs372087728	146	R>H		No	ESP ExAC TOPMed gnomAD
rs1469990986	147	A>V		No	TOPMed gnomAD
rs1390694256	148	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs745377968	149	N>D		No	ExAC TOPMed gnomAD
rs150178196	149	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs779975720	152	A>G		No	ExAC gnomAD
rs770478893	152	A>S		No	ExAC TOPMed gnomAD
rs770478893	152	A>T		No	ExAC TOPMed gnomAD
rs1750823872	153	W>R		No	Ensembl
rs140827089	156	A>V		No	ESP
rs1204819586	157	H>P		No	TOPMed gnomAD
rs1204819586	157	H>R		No	TOPMed gnomAD
rs1302021203	158	G>R		No	gnomAD
rs1372706832	159	K>E		No	gnomAD
rs758173006	160	L>F		No	TOPMed gnomAD
rs758240365	161	Y>C		No	ExAC gnomAD
rs1291053868	162	S>Y		No	gnomAD
COSM4851741	165	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778854788	165	Q>P		No	ExAC gnomAD
rs1750823075	166	I>F		No	gnomAD
rs1388403890	166	I>M		No	gnomAD
rs890561377	166	I>T		No	TOPMed gnomAD
rs201668229	167	G>V		No	1000Genomes
rs753877174	168	A>T		No	ExAC gnomAD
rs766536822	169	F>I		No	ExAC TOPMed gnomAD
rs760801530	170	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs544085290 RCV000919855	172	M>I		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs948429408	172	M>R		No	Ensembl
rs2127159682	174	M>I		No	Ensembl
rs767969585	174	M>V		No	ExAC TOPMed gnomAD
rs1425154809	176	E>K		No	Ensembl
rs1184842720	178	A>T		No	TOPMed
rs762286550	178	A>V		No	ExAC gnomAD
rs762214761	181	Y>H		No	ExAC gnomAD
TCGA novel	182	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372720662	183	G>R		No	ESP ExAC TOPMed gnomAD
rs868291511	183	G>V		No	Ensembl
rs17849320	184	H>R		No	Ensembl
VAR_046483	184	H>Y		No	UniProt
rs1750795281	185	T>A		No	Ensembl
rs763341420	185	T>I		No	ExAC TOPMed gnomAD
rs763341420	185	T>R		No	ExAC TOPMed gnomAD
rs776115911	186	A>T		No	ExAC gnomAD
rs2127159000	187	K>E		No	Ensembl
rs765759294	189	A>V		No	ExAC TOPMed gnomAD
rs1750794829	191	I>V		No	TOPMed
COSM1061419	197	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1416873923	197	F>V		No	gnomAD
rs760210081	198	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs771724792	200	S>A		No	ExAC TOPMed gnomAD
VAR_076664 rs199715716	200	S>L		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1061418	204	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1304705921	205	T>A		No	TOPMed gnomAD
rs1304705921	205	T>S		No	TOPMed gnomAD
rs148034518	208	A>G		No	ESP ExAC TOPMed gnomAD
rs774098981	209	G>V		No	ExAC TOPMed gnomAD
rs1301334156	211	I>V		No	TOPMed gnomAD
rs768419819	213	G>E		No	TOPMed gnomAD
COSM4414122	215	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749137620	216	V>M		No	ExAC gnomAD
rs1428928051	217	L>F		No	gnomAD
rs1750791747	219	V>A		No	TOPMed gnomAD
rs1343162952	220	I>V		No	gnomAD
TCGA novel	221	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1750791523	221	N>S		No	TOPMed
rs775220927	224	T>I		No	ExAC gnomAD
rs34558740 VAR_049623	225	A>G		No	UniProt dbSNP gnomAD
rs1401183072	225	A>S		No	gnomAD
rs34558740	225	A>V		No	gnomAD
rs1175235928	227	A>S		No	TOPMed
rs1453206421	229	A>G		No	gnomAD
rs1395163571	230	Y>H		No	gnomAD
COSM1433406	234	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1750790937	237	D>E		No	TOPMed
rs989823871	237	D>N		No	Ensembl
rs145303368	238	K>E		No	ESP ExAC TOPMed gnomAD
rs778087540	238	K>I		No	ExAC TOPMed gnomAD
rs778087540	238	K>R		No	ExAC TOPMed gnomAD
rs778087540	238	K>T		No	ExAC TOPMed gnomAD
rs753119713	239	V>A		No	ExAC TOPMed gnomAD
rs758625540 COSM1061417	239	V>F	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs753119713	239	V>G		No	ExAC TOPMed gnomAD
rs1750785362	240	I>N		No	Ensembl
rs368687726	240	I>V		No	ESP ExAC gnomAD
rs747119628	242	V>A		No	ExAC gnomAD
rs892346144	242	V>I		No	TOPMed
TCGA novel	243	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1750785174	243	Y>N		No	Ensembl
rs777801756	245	L>V		No	ExAC TOPMed gnomAD
rs772323060	250	F>L		No	ExAC gnomAD
rs1356087653	252	I>M		No	gnomAD
rs1750784877	252	I>T		No	TOPMed
rs1750784921	252	I>V		No	TOPMed
rs779217357	254	I>M		No	ExAC TOPMed gnomAD
rs1750784731	254	I>T		No	TOPMed gnomAD
rs748383587	254	I>V		No	ExAC TOPMed gnomAD
rs1561860048	255	L>V		No	Ensembl
rs754290293	258	Q>E		No	ExAC TOPMed gnomAD
rs756687198	261	V>I		No	ExAC TOPMed gnomAD
rs1750784420	262	F>L		No	TOPMed
rs1187725149	264	V>L		No	gnomAD
rs763581578	266	S>C		No	ExAC gnomAD
TCGA novel	267	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1061416	268	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1750784228	270	D>N		No	Ensembl
RCV001089769 rs1750784096	273	L>*		No	ClinVar Ensembl dbSNP
rs1480311695	278	F>L		No	gnomAD
rs1750783838	279	D>N		No	TOPMed
rs1750783753	280	Q>R		No	gnomAD
rs201220680	281	A>D		No	TOPMed gnomAD
COSM141121 rs201220680	281	A>V	upper_aerodigestive_tract [Cosmic]	No	cosmic curated TOPMed gnomAD
rs202009644	282	L>F		No	1000Genomes ExAC gnomAD
rs765079858	283	L>I		No	ExAC TOPMed gnomAD
rs771008866	284	R>Q		No	ExAC gnomAD
COSM204776 rs776644009	284	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1314699190	286	I>V		No	TOPMed gnomAD
rs928609715	287	V>M		No	TOPMed gnomAD
rs1257283143	288	K>E		No	TOPMed
rs773335847	289	E>A		No	ExAC gnomAD
rs1389639190	289	E>Q		No	gnomAD
rs202180095	290	F>L		No	Ensembl
rs199831172	291	K>E		No	Ensembl
rs199831172	291	K>Q		No	Ensembl
rs1473098320	291	K>R		No	TOPMed gnomAD
rs1750782512	292	R>G		No	gnomAD
rs772083085	293	E>K		No	ExAC gnomAD
rs772083085	293	E>Q		No	ExAC gnomAD
rs1345067022	294	T>A		No	gnomAD
rs1419672460	295	G>A		No	Ensembl
rs1419672460	295	G>E		No	Ensembl
rs760627658	297	D>N		No	ExAC gnomAD
rs1332500754	298	L>F		No	gnomAD
rs1459558440	298	L>S		No	TOPMed gnomAD
rs1750771815	299	T>I		No	TOPMed
rs773071248	300	K>E		No	ExAC TOPMed gnomAD
rs773071248	300	K>Q		No	ExAC TOPMed gnomAD
rs767583577	302	N>I		No	ExAC TOPMed gnomAD
rs761826085	302	N>K		No	ExAC TOPMed gnomAD
rs767583577	302	N>S		No	ExAC TOPMed gnomAD
rs774485873	303	M>L		No	ExAC gnomAD
TCGA novel rs1750771385	304	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1433429274	304	A>V		No	TOPMed gnomAD
TCGA novel rs1481587917	306	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1481587917	306	Q>E		No	TOPMed gnomAD
COSM1310575	306	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1174385426	307	R>K		No	gnomAD
rs1750770928	308	V>I		No	Ensembl
rs1750770820	309	R>Q		No	Ensembl
rs1750770881	309	R>W		No	Ensembl
TCGA novel	310	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3850467	311	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1364220831	312	A>T		No	Ensembl
rs746340776	315	A>T		No	ExAC gnomAD
rs1042665	316	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1484678352	317	C>Y		No	gnomAD
RCV001089768 rs1006015882	319	L>F		No	ClinVar TOPMed dbSNP gnomAD
COSM3826852	321	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1318933137	321	S>P		No	TOPMed
rs778625497	322	S>C		No	ExAC gnomAD
rs149041674	323	V>M		No	ESP ExAC TOPMed gnomAD
rs1025628380	324	Q>L		No	Ensembl
rs1750666126	326	D>E		No	Ensembl
rs764113379	326	D>Y		No	ExAC gnomAD
rs763055480	328	N>S		No	ExAC TOPMed gnomAD
rs893099045	330	P>S		No	Ensembl
rs1561858216	331	Y>C		No	Ensembl
rs765391681	333	T>I		No	ExAC TOPMed gnomAD
rs765391681	333	T>K		No	ExAC TOPMed gnomAD
TCGA novel	334	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1421061013	334	M>T		No	TOPMed
rs1291059207	334	M>V		No	gnomAD
rs759861127	335	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1349212181	339	P>H		No	gnomAD
rs1402131297	340	K>E		No	gnomAD
TCGA novel	342	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771368494	343	N>S		No	ExAC gnomAD
rs1743646001	345	K>R		No	gnomAD
rs1750665236	347	T>I		No	TOPMed
rs543042916	348	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs773876374	348	R>H		No	ExAC TOPMed gnomAD
rs768239719	349	A>V		No	ExAC gnomAD
rs1750664912	350	Q>R		No	TOPMed gnomAD
rs748811314	354	I>T		No	ExAC gnomAD
rs1324015992	354	I>V		No	gnomAD
rs572429102	355	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs769313844	356	T>A		No	ExAC gnomAD
rs1439699836	356	T>I		No	gnomAD
rs769313844	356	T>P		No	ExAC gnomAD
rs1381653547	357	D>H		No	gnomAD
rs756654843	358	L>P		No	ExAC TOPMed gnomAD
rs1360759088	359	I>F		No	TOPMed
rs1750664401	359	I>T		No	Ensembl
rs780817008	360	R>G		No	ExAC gnomAD
rs1750664235	362	T>A		No	Ensembl
rs1396804854	363	I>T		No	TOPMed
rs757068982	363	I>V		No	ExAC gnomAD
rs751461394	364	A>P		No	ExAC TOPMed gnomAD
rs751461394	364	A>T		No	ExAC TOPMed gnomAD
rs1580744005	366	C>F		No	TOPMed
rs1580744005	366	C>Y		No	TOPMed
rs939976449	367	Q>H		No	TOPMed gnomAD
rs777695218	369	A>T		No	ExAC gnomAD
rs1580743997	370	M>T		No	Ensembl
rs1750663637	370	M>V		No	Ensembl
rs758416336	373	A>G		No	ExAC gnomAD
rs1750663448	375	V>L		No	Ensembl
rs368420331	377	K>N		No	ESP TOPMed
rs1580743971	378	S>R		No	Ensembl
rs1355883088	379	D>V		No	gnomAD
TCGA novel	381	G>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1433405	382	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1310902203	383	V>A		No	TOPMed
rs752706346	384	I>F		No	ExAC TOPMed gnomAD
rs1368659008	386	V>A		No	gnomAD
rs1233802913	386	V>M		No	gnomAD
rs1750662881	389	M>I		No	Ensembl
rs759647678	389	M>V		No	ExAC TOPMed
rs1750662829	391	R>G		No	TOPMed
rs1561858140	392	M>I		No	Ensembl
rs991200642	393	P>A		No	Ensembl
rs754137313	393	P>R		No	ExAC TOPMed gnomAD
rs1197661898	395	V>I		No	gnomAD
TCGA novel	397	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1750621881	397	Q>R		No	TOPMed
rs1316765038 COSM482007	399	V>A	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1260453114	399	V>I		No	TOPMed gnomAD
rs1356338736	401	D>E		No	gnomAD
rs1208549656	401	D>V		No	gnomAD
rs1284836614	403	F>S		No	TOPMed gnomAD
rs1284836614	403	F>Y		No	TOPMed gnomAD
rs1247007610	404	G>R		No	gnomAD
rs1282795769	405	R>G		No	TOPMed gnomAD
rs781571030	405	R>K		No	ExAC gnomAD
rs2127154377	406	A>G		No	Ensembl
rs757507106	406	A>S		No	ExAC TOPMed gnomAD
rs757507106	406	A>T		No	ExAC TOPMed gnomAD
rs751940589	408	S>C		No	ExAC TOPMed gnomAD
rs751940589	408	S>G		No	ExAC TOPMed gnomAD
rs751940589	408	S>R		No	ExAC TOPMed gnomAD
rs778066436	408	S>T		No	ExAC gnomAD
rs758911711	410	A>V		No	ExAC gnomAD
rs2127154369	411	V>I		No	Ensembl
rs753255032	412	N>S		No	ExAC gnomAD
rs1481623691	417	V>A		No	TOPMed gnomAD
rs1275465640	417	V>M		No	TOPMed gnomAD
rs1580742527	418	A>T		No	Ensembl
rs756830736	419	I>L		No	gnomAD
rs756830736	419	I>V		No	gnomAD
rs1248315315	420	G>R		No	TOPMed gnomAD
rs1750618659	422	A>T		No	gnomAD
rs750008058	426	G>S		No	ExAC gnomAD
rs1177605727	429	A>V		No	gnomAD
rs952734654	431	D>N		No	Ensembl
rs2127154337	431	D>V		No	1000Genomes
rs1451402921	433	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1197264791	433	T>P		No	gnomAD
rs1212182881	434	D>G		No	gnomAD
rs1750617500	434	D>H		No	TOPMed
rs1319310807	435	V>M		No	gnomAD
rs1750617254	436	L>P		No	Ensembl
rs1172568711	440	V>I		No	Ensembl
rs1351540293	441	T>S		No	gnomAD
rs1285463490	442	P>S		No	gnomAD
TCGA novel	446	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2127154300	447	I>M		No	Ensembl
rs1750616207	452	G>C		No	Ensembl
TCGA novel	452	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1324070118 COSM1753999	458	I>T	urinary_tract [Cosmic]	No	cosmic curated gnomAD
rs1750615904	462	T>I		No	Ensembl
COSM3850466	463	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1426524276	463	T>N		No	gnomAD
rs972968585	463	T>P		No	Ensembl
rs1358034476	464	I>L		No	TOPMed gnomAD
rs1157592299	466	T>A		No	gnomAD
rs1019749684	469	S>N		No	Ensembl
TCGA novel	470	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs200604860	471	V>L		No	ExAC gnomAD
rs1451850704	474	T>P		No	TOPMed
rs145860531 CA3430780 RCV000495214	476	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1750586071	479	Q>R		No	Ensembl
rs780729960	480	T>K		No	ExAC TOPMed gnomAD
rs780729960	480	T>M		No	ExAC TOPMed gnomAD
rs1419055516	481	Q>E		No	gnomAD
rs139840609	484	I>V		No	ESP ExAC TOPMed gnomAD
rs1315846704	487	C>S		No	gnomAD
rs758183553	487	C>Y		No	ExAC TOPMed gnomAD
rs1300610963	492	E>D		No	gnomAD
rs752536151	492	E>Q		No	ExAC TOPMed gnomAD
rs765163858	495	G>A		No	ExAC gnomAD
rs759527989	496	D>E		No	ExAC gnomAD
rs1750583706	499	L>P		No	gnomAD
rs999142710	500	L>V		No	TOPMed
rs1750583532	501	G>E		No	TOPMed
rs1464354488	502	Q>R		No	TOPMed gnomAD
rs199863065	503	F>L		No	ExAC TOPMed gnomAD
rs1472698653	504	T>I		No	Ensembl
rs760677747	505	L>S		No	ExAC
rs774116913	506	I>L		No	TOPMed gnomAD
rs201894482	509	P>A		No	ExAC TOPMed gnomAD
rs201894482	509	P>S		No	ExAC TOPMed gnomAD
rs752447855 COSM3850465	510	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1198600931	511	A>D		No	TOPMed
TCGA novel	512	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1470118779	512	P>R		No	gnomAD
rs765080012	513	R>C		No	ExAC TOPMed gnomAD
rs566636367	513	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs566636367	513	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs1430400799	515	V>I		No	gnomAD
rs1183043039	517	Q>E		No	gnomAD
rs1237338105	517	Q>H		No	TOPMed gnomAD
rs1443392594	521	T>I		No	gnomAD
COSM4913181	524	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1255327269	527	N>S		No	TOPMed
rs1750563624	529	I>L		No	Ensembl
rs1380575225	529	I>M		No	gnomAD
rs767619327	531	H>R		No	ExAC gnomAD
rs770774061	532	V>I		No	Ensembl
rs1396402287	533	S>Y		No	gnomAD
COSM3609030	534	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762000593	538	G>A		No	ExAC TOPMed gnomAD
rs762000593	538	G>D		No	ExAC TOPMed gnomAD
VAR_076669	539	T>K		No	UniProt
rs1750562715	540	G>E		No	TOPMed gnomAD
rs774577831	541	R>C		No	ExAC TOPMed gnomAD
rs768967239	541	R>H		No	ExAC TOPMed gnomAD
rs1463769778	542	E>K		No	gnomAD
rs1750562358	543	Q>*		No	Ensembl
rs1750554260	545	I>S		No	gnomAD
TCGA novel	547	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs751711359	548	Q>E		No	ExAC gnomAD
rs369947696	549	S>F		No	Ensembl
rs764312855	550	S>P		No	ExAC gnomAD
rs1290831418	553	L>V		No	gnomAD
COSM272785	555	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	556	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs553417889	557	D>V		No	1000Genomes
rs1425895246	558	I>T		No	TOPMed gnomAD
rs763302443	558	I>V		No	ExAC TOPMed gnomAD
rs1387647882	559	E>D		No	TOPMed gnomAD
rs775687569	560	N>S		No	ExAC gnomAD
rs1175162483	562	V>I		No	gnomAD
rs1750553414	563	K>T		No	gnomAD
rs956697322	565	A>S		No	TOPMed gnomAD
COSM1061415	566	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759911465	566	E>K		No	ExAC TOPMed gnomAD
rs1042543183	568	Y>C		No	TOPMed
rs1750552992	569	A>D		No	TOPMed
rs1261884803	569	A>S		No	TOPMed gnomAD
rs771644988	570	E>K		No	ExAC TOPMed gnomAD
rs111896014	571	E>D		No	ESP ExAC TOPMed gnomAD
rs147723579	573	R>G		No	ESP ExAC TOPMed gnomAD
rs768187310	573	R>Q		No	ExAC TOPMed gnomAD
VAR_076670 rs147723579	573	R>W		No	UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1561856552	574	R>*		No	gnomAD
COSM3237488 rs372075340	574	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1341175787	576	K>R		No	gnomAD
TCGA novel	576	K>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2127152588	577	E>G		No	Ensembl
VAR_076671 rs905439101	577	E>K		No	UniProt TOPMed dbSNP gnomAD
rs757156840 COSM5867383	578	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs747000563	578	R>Q		No	ExAC TOPMed gnomAD
rs1750538962	579	V>A		No	Ensembl
rs1580740412	580	E>G		No	Ensembl
rs758538437	580	E>K		No	ExAC gnomAD
rs1446152033	582	V>I		No	gnomAD
rs201621668	584	M>T		No	1000Genomes ExAC gnomAD
rs1388588181	584	M>V		No	TOPMed
rs765514655	585	A>S		No	ExAC TOPMed gnomAD
rs755312533	588	I>V		No	ExAC gnomAD
rs377603964	589	I>T		No	ESP ExAC TOPMed gnomAD
rs761237709	591	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs773787465	592	T>I		No	ExAC
rs763470552	594	T>N		No	ExAC gnomAD
rs1750538132	595	K>R		No	TOPMed
rs546184994	596	M>L		No	1000Genomes ExAC gnomAD
rs546184994	596	M>V		No	1000Genomes ExAC gnomAD
rs769472647	597	E>D		No	ExAC gnomAD
rs1750537976	597	E>K		No	Ensembl
rs971782256	598	E>A		No	TOPMed gnomAD
rs374085753	598	E>K		No	ESP ExAC TOPMed gnomAD
TCGA novel	599	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs1750537765	599	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1750537685	601	D>G		No	TOPMed
rs776390772	601	D>N		No	ExAC gnomAD
TCGA novel	601	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1163728907	604	P>L		No	gnomAD
rs746909459	605	A>S		No	ExAC TOPMed gnomAD
rs944454875	606	D>N		No	TOPMed gnomAD
TCGA novel	607	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1489628589	607	E>G		No	Ensembl
rs760535812	608	C>R		No	ExAC gnomAD
rs1466336295	609	N>D		No	TOPMed gnomAD
rs1262630438	609	N>K		No	gnomAD
rs1216765360	610	K>Q		No	gnomAD
rs772942312	610	K>R		No	ExAC TOPMed gnomAD
rs1750525669	613	E>K		No	TOPMed
rs1451391733	614	E>D		No	Ensembl
rs772044929	614	E>G		No	ExAC TOPMed gnomAD
rs1276789293	614	E>Q		No	gnomAD
rs748079161	615	I>S		No	ExAC gnomAD
rs1337724811	618	M>I		No	gnomAD
rs1225324381	618	M>V		No	gnomAD
rs768876845	619	R>G		No	ExAC gnomAD
rs1430999478	619	R>K		No	gnomAD
rs1346545146	621	L>P		No	gnomAD
rs749478409	622	L>R		No	ExAC gnomAD
rs1750524649	624	R>K		No	Ensembl
rs780426518	624	R>S		No	ExAC gnomAD
rs373475418	625	K>R		No	ESP ExAC TOPMed gnomAD
rs1750524397	627	S>G		No	TOPMed gnomAD
rs1042686	627	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1418876151	628	E>A		No	gnomAD
rs566717208	628	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1750523832	631	E>G		No	gnomAD
TCGA novel	632	N>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs757761500	633	I>T		No	ExAC gnomAD
rs1476434682	633	I>V		No	gnomAD
rs1750523559	635	Q>R		No	TOPMed
rs897464861	637	A>G		No	TOPMed gnomAD
rs752031445	637	A>T		No	ExAC TOPMed gnomAD
rs1261595470	638	S>C		No	TOPMed gnomAD
rs753435081 COSM1671903	639	S>F	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs769133917	640	L>F		No	Ensembl
COSM448660	640	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760315942	641	Q>H		No	ExAC TOPMed gnomAD
rs773032631	642	Q>R		No	ExAC TOPMed gnomAD
rs1282014669	643	A>T		No	gnomAD
rs1175448543	643	A>V		No	Ensembl
rs761757742	645	L>R		No	ExAC gnomAD
rs10117	645	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148730345	648	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1750521752	649	E>D		No	Ensembl
rs1750521816 COSM1210076	649	E>K	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs1464403273	650	M>V		No	gnomAD
rs1171767981	652	Y>H		No	gnomAD
rs780336586	653	K>E		No	ExAC gnomAD
rs1411776671	653	K>R		No	gnomAD
TCGA novel	658	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746063903	658	E>V		No	ExAC TOPMed gnomAD
rs928003605	659	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs771270386	659	R>L		No	ExAC TOPMed gnomAD
rs771270386	659	R>Q		No	ExAC TOPMed gnomAD
rs1266697766	661	G>R		No	TOPMed gnomAD
rs1266697766	661	G>S		No	TOPMed gnomAD
rs1580739851	662	S>C		No	Ensembl
rs1490379442	662	S>P		No	gnomAD
rs778180345	663	G>V		No	ExAC gnomAD
rs969505863	664	S>C		No	TOPMed gnomAD
rs543954226	665	S>Y		No	ExAC TOPMed gnomAD
rs1027787961	666	G>C		No	TOPMed gnomAD
rs1027787961	666	G>S		No	TOPMed gnomAD
rs1750512498	668	G>E		No	TOPMed
rs748706250	668	G>R		No	ExAC gnomAD
rs1750512373	670	Q>R		No	gnomAD
rs1445862911	672	E>Q		No	gnomAD
rs778107935	673	D>H		No	ExAC TOPMed gnomAD
rs778107935	673	D>N		No	ExAC TOPMed gnomAD
rs1750512037	674	Q>E		No	Ensembl
rs201515324	678	K>T		No	1000Genomes

2 associated diseases with P38646

[MIM: 182170]: Anemia, sideroblastic, 4 (SIDBA4)

A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616854]: Even-plus syndrome (EVPLS)

An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. . Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P38646

Type	Name	Position	InterPro Accession
conserved_site	Heat shock protein 70, conserved site	58 - 65	IPR018181-1
conserved_site	Heat shock protein 70, conserved site	242 - 255	IPR018181-2
conserved_site	Heat shock protein 70, conserved site	383 - 397	IPR018181-3

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion Nucleus, nucleolus Cytoplasm Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
MIB complex	A mitochondrial intermembrane space bridging complex consisting of components of the MICOS complex in the inner mitochondrial membrane, the SAM complex in the outer membrane, a conserved DNAJ protein (human DNAJC11) and Metaxin 1.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
SAM complex	A large complex of the mitochondrial outer membrane that mediates sorting of some imported proteins to the outer membrane and their assembly in the membrane; functions after import of incoming proteins by the mitochondrial outer membrane translocase complex.
TIM23 mitochondrial import inner membrane translocase complex	The protein transport machinery of the mitochondrial inner membrane that typically transports proteins that possess a matrix-targeting N-terminal presequence. The TIM23 complex contains three essential Tim proteins

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction
ATP-dependent protein folding chaperone	Binding to a protein or a protein-containing complex to assist the protein folding process, driven by ATP hydrolysis.
heat shock protein binding	Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
protein folding chaperone	Binding to a protein or a protein-containing complex to assist the protein folding process.
RNA binding	Binding to an RNA molecule or a portion thereof.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
unfolded protein binding	Binding to an unfolded protein.

12 GO annotations of biological process

Name	Definition
chaperone cofactor-dependent protein refolding	The process of assisting in the correct posttranslational noncovalent assembly of proteins, which is dependent on additional protein cofactors. This process occurs over one or several cycles of nucleotide hydrolysis-dependent binding and release.
erythrocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
inner mitochondrial membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the mitochondrial inner membrane.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
iron-sulfur cluster assembly	The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of erythrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation.
negative regulation of hematopoietic stem cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell differentiation.
negative regulation of hemopoiesis	Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis.
protein export from nucleus	The directed movement of a protein from the nucleus into the cytoplasm.
protein refolding	The process carried out by a cell that restores the biological activity of an unfolded or misfolded protein, using helper proteins such as chaperones.
regulation of erythrocyte differentiation	Any process that modulates the frequency, rate or extent of erythrocyte differentiation.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P77319	hscC	Chaperone protein HscC	Escherichia coli (strain K12)	PR
P0A6Y8	dnaK	Chaperone protein DnaK	Escherichia coli (strain K12)	SS
P0DMV9	HSPA1B	Heat shock 70 kDa protein 1B	Homo sapiens (Human)	SS
P17066	HSPA6	Heat shock 70 kDa protein 6	Homo sapiens (Human)	SS
P11021	HSPA5	Endoplasmic reticulum chaperone BiP	Homo sapiens (Human)	SS
P0DMV8	HSPA1A	Heat shock 70 kDa protein 1A	Homo sapiens (Human)	SS
P34931	HSPA1L	Heat shock 70 kDa protein 1-like	Homo sapiens (Human)	SS
Q0VDF9	HSPA14	Heat shock 70 kDa protein 14	Homo sapiens (Human)	SS
P54652	HSPA2	Heat shock-related 70 kDa protein 2	Homo sapiens (Human)	SS
P11142	HSPA8	Heat shock cognate 71 kDa protein	Homo sapiens (Human)	EV
P48741	HSPA7	Putative heat shock 70 kDa protein 7	Homo sapiens (Human)	SS
P11141	hsp-6	Heat shock protein hsp-6	Caenorhabditis elegans	PR

10	20	30	40	50	60
MISASRAAAA	RLVGAAASRG	PTAARHQDSW	NGLSHEAFRL	VSRRDYASEA	IKGAVVGIDL
70	80	90	100	110	120
GTTNSCVAVM	EGKQAKVLEN	AEGARTTPSV	VAFTADGERL	VGMPAKRQAV	TNPNNTFYAT
130	140	150	160	170	180
KRLIGRRYDD	PEVQKDIKNV	PFKIVRASNG	DAWVEAHGKL	YSPSQIGAFV	LMKMKETAEN
190	200	210	220	230	240
YLGHTAKNAV	ITVPAYFNDS	QRQATKDAGQ	ISGLNVLRVI	NEPTAAALAY	GLDKSEDKVI
250	260	270	280	290	300
AVYDLGGGTF	DISILEIQKG	VFEVKSTNGD	TFLGGEDFDQ	ALLRHIVKEF	KRETGVDLTK
310	320	330	340	350	360
DNMALQRVRE	AAEKAKCELS	SSVQTDINLP	YLTMDSSGPK	HLNMKLTRAQ	FEGIVTDLIR
370	380	390	400	410	420
RTIAPCQKAM	QDAEVSKSDI	GEVILVGGMT	RMPKVQQTVQ	DLFGRAPSKA	VNPDEAVAIG
430	440	450	460	470	480
AAIQGGVLAG	DVTDVLLLDV	TPLSLGIETL	GGVFTKLINR	NTTIPTKKSQ	VFSTAADGQT
490	500	510	520	530	540
QVEIKVCQGE	REMAGDNKLL	GQFTLIGIPP	APRGVPQIEV	TFDIDANGIV	HVSAKDKGTG
550	560	570	580	590	600
REQQIVIQSS	GGLSKDDIEN	MVKNAEKYAE	EDRRKKERVE	AVNMAEGIIH	DTETKMEEFK
610	620	630	640	650	660
DQLPADECNK	LKEEISKMRE	LLARKDSETG	ENIRQAASSL	QQASLKLFEM	AYKKMASERE
670
GSGSSGTGEQ	KEDQKEEKQ