AiPD: Autoinhibited Protein Database

Q9Y5K3

Gene name	PCYT1B (CCTB)
Protein name	Choline-phosphate cytidylyltransferase B
Names	CCT-beta, CTP:phosphocholine cytidylyltransferase B, CCT B, CT B, Phosphorylcholine transferase B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9468
EC number	2.7.7.15: Nucleotidyltransferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

277-369 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

277-369 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9Y5K3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5K3-F1	Predicted				AlphaFoldDB

127 variants for Q9Y5K3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs145642741 CA327715431	2	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145642741 CA10372649	2	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	5	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412607854 rs1440248442	7	D>A		No	ClinGen TOPMed
rs767248071 CA10372648	11	E>G		No	ClinGen ExAC gnomAD
rs755263205 CA10372647	13	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10372645 rs751907856	16	K>I		No	ClinGen ExAC gnomAD
rs1162345955 CA412607788	17	S>F		No	ClinGen gnomAD
rs150429752 CA10372644	20	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763493684 CA10372643	20	N>S		No	ClinGen ExAC gnomAD
CA10372642 rs138783137	21	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA412607760 rs1199408396	22	P>S		No	ClinGen TOPMed
CA10372641 rs763496638	25	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1602206590 CA412607730	26	T>I		No	ClinGen Ensembl
rs1179199395 CA412607735	26	T>P		No	ClinGen TOPMed
CA10372639 rs776698327	27	M>T		No	ClinGen ExAC TOPMed gnomAD
CA10372638 rs768963636	30	I>T		No	ClinGen ExAC gnomAD
rs747228751 CA10372637	31	E>D		No	ClinGen ExAC gnomAD
COSM252708 rs113515356 CA412607680	33	T>I	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA327715429 rs113515356	33	T>R		No	ClinGen TOPMed
rs1308327349 CA412607674	34	C>F		No	ClinGen gnomAD
TCGA novel	36	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750648557 CA327713358	40	T>N		No	ClinGen 1000Genomes
CA412607624 rs1263839861	41	L>V		No	ClinGen gnomAD
CA10372619 rs770697123	42	T>I		No	ClinGen ExAC gnomAD
CA10372618 rs770697123	42	T>N		No	ClinGen ExAC gnomAD
CA412607617 rs1313899862	42	T>S		No	ClinGen gnomAD
CA10372616 rs773102500	44	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1444116994 CA412607591	47	F>L		No	ClinGen gnomAD
CA412607546 rs1399010690	53	C>R		No	ClinGen gnomAD
rs768052598 CA10372612	53	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA10372611 rs6628025	54	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA412607525 rs1443524344	56	Q>E		No	ClinGen gnomAD
rs758818593 CA10372609	58	P>T		No	ClinGen ExAC gnomAD
rs779452422 CA10372607	59	H>Q		No	ClinGen ExAC gnomAD
rs1177092744 CA412607449	67	A>D		No	ClinGen gnomAD
CA412607444 rs1258414599	68	R>C		No	ClinGen TOPMed
rs757734696 CA10372606	68	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779365288 CA10372590	79	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779365288 CA412607362	79	V>L		No	ClinGen ExAC TOPMed gnomAD
CA327712475 rs984666694	81	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1255554485 CA412607334	83	G>E		No	ClinGen gnomAD
rs778191090 CA10372587	85	F>Y		No	ClinGen ExAC gnomAD
rs1287673158 CA412607307	87	L>F		No	ClinGen TOPMed
rs953146219 CA327712474	92	H>Q		No	ClinGen TOPMed
rs1488583653 CA412607266	93	A>S		No	ClinGen gnomAD
TCGA novel	95	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476958516 CA412607145	110	V>A		No	ClinGen TOPMed
COSM1490809 COSM1490808 rs1353849211 COSM457295 CA412607109	114	S>G	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA327711162 rs868150247	122	K>E		No	ClinGen Ensembl
TCGA novel	123	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766562731 CA10372564	126	V>M		No	ClinGen ExAC
rs947034441 CA327711161	130	A>T		No	ClinGen Ensembl
COSM1119520 rs767133214 CA10372558 COSM1599130 COSM1599129	144	E>K	Variant assessed as Somatic; 6.259e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10372557 rs759164910	148	D>N		No	ClinGen ExAC gnomAD
rs1169980397 CA412606835	152	T>I		No	ClinGen TOPMed gnomAD
CA412606823 rs1247167809	154	T>M		No	ClinGen gnomAD
TCGA novel	155	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423439017 CA412606794	159	E>Q		No	ClinGen gnomAD
TCGA novel	160	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	161	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754236113 CA10372553	161	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs770144930 CA10372552	162	K>R		No	ClinGen ExAC TOPMed gnomAD
CA10372538 rs750985354	171	I>V		No	ClinGen ExAC gnomAD
CA412606683 rs1174221637	172	P>L		No	ClinGen gnomAD
CA10372535 rs772981585	175	S>F		No	ClinGen ExAC gnomAD
TCGA novel	176	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412606612 rs1569241013	183	K>M		No	ClinGen Ensembl
CA10372516 rs192028641	189	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs367642370 CA10372514	192	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367642370 CA10372515	192	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285645043 CA412606516	195	Q>R		No	ClinGen gnomAD
TCGA novel	196	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	197	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372510 rs746011086	198	E>Q		No	ClinGen ExAC gnomAD
CA10372508 rs144206031	199	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10372506 rs781062260	211	R>H		No	ClinGen ExAC gnomAD
TCGA novel	212	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412606381 rs1358386772	215	V>A		No	ClinGen gnomAD
TCGA novel	217	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10372505 rs754864755	217	A>V		No	ClinGen ExAC gnomAD
TCGA novel	219	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	228	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180427358 CA412606262	233	S>T		No	ClinGen TOPMed
CA412606188 rs1261580051	241	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	243	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	247	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	259	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327710102 rs865790719	259	R>K		No	ClinGen Ensembl
TCGA novel	260	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327710100 rs1027189193	269	E>G		No	ClinGen TOPMed gnomAD
rs1305730963 CA412605941	274	L>Q		No	ClinGen gnomAD
CA10372486 rs752099580	280	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA412605851 rs1219642173	286	I>T		No	ClinGen TOPMed gnomAD
rs1009290846 CA327710096	298	A>T		No	ClinGen Ensembl
CA327709049 rs895248853	301	Q>H		No	ClinGen TOPMed
rs1372515064 CA412605065	303	F>L		No	ClinGen TOPMed
rs931168726 CA327709047	309	R>Q		No	ClinGen TOPMed gnomAD
CA327709048 rs1055366422	309	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1326011480 CA412605001	312	Q>R		No	ClinGen gnomAD
rs1569234639 CA412604962	318	Q>*		No	ClinGen Ensembl
TCGA novel	318	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440671620 CA412604913	325	T>A		No	ClinGen gnomAD
TCGA novel	325	T>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770019516 CA10372467	326	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1582820 COSM1582821 rs773535079 CA10372468	326	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10372464 rs771768530	328	R>Q		No	ClinGen ExAC gnomAD
rs775298454 CA10372465	328	R>W		No	ClinGen ExAC gnomAD
rs1484205626 CA412604883	330	P>L		No	ClinGen gnomAD
CA10372463 rs745805932	332	R>C		No	ClinGen ExAC TOPMed gnomAD
rs202170430 CA327709045	332	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM183713 CA10372462 rs778883596	335	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756741793 CA10372461	336	P>S		No	ClinGen ExAC TOPMed gnomAD
CA412604824 rs1397228948	340	W>*		No	ClinGen gnomAD
rs1354161932 CA412604819	341	L>F		No	ClinGen gnomAD
rs1312785835 CA412604813	342	P>S		No	ClinGen gnomAD
CA412604782 rs1167703914	347	P>A		No	ClinGen TOPMed
CA10372457 rs752293225	348	P>A		No	ClinGen ExAC gnomAD
CA412604752 rs1369217824	352	K>*		No	ClinGen gnomAD
CA412604733 rs1462062324	355	S>P		No	ClinGen TOPMed
TCGA novel	356	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	357	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA412604715 rs1422097848	358	I>V		No	ClinGen gnomAD
TCGA novel	363	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA327709042 rs781320489	363	E>K		No	ClinGen Ensembl
CA412604669 rs1265065568	364	G>R		No	ClinGen gnomAD
CA10372452 rs763583297	365	D>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9Y5K3

2 regional properties for Q9Y5K3

Type	Name	Position	InterPro Accession
domain	Cytidyltransferase-like domain	78 - 208	IPR004821
domain	CTP:phosphocholine cytidylyltransferase domain	75 - 224	IPR041723

Functions

		Description
EC Number	2.7.7.15	Nucleotidyltransferases
Subcellular Localization	[Isoform 1]: Cytoplasm Endoplasmic reticulum ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.

3 GO annotations of molecular function

Name	Definition
choline-phosphate cytidylyltransferase activity	Catalysis of the reaction: CTP + choline phosphate = diphosphate + CDP-choline.
identical protein binding	Binding to an identical protein or proteins.
phosphatidylcholine binding	Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline.

4 GO annotations of biological process

Name	Definition
CDP-choline pathway	The phosphatidylcholine biosynthetic process that begins with the phosphorylation of choline and ends with the combination of CDP-choline with diacylglycerol to form phosphatidylcholine.
ovarian follicle development	The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure.
phosphatidylcholine biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P49585	PCYT1A	Choline-phosphate cytidylyltransferase A	Homo sapiens (Human)	SS
P49586	Pcyt1a	Choline-phosphate cytidylyltransferase A	Mus musculus (Mouse)	SS
Q811Q9	Pcyt1b	Choline-phosphate cytidylyltransferase B	Mus musculus (Mouse)	SS
P19836	Pcyt1a	Choline-phosphate cytidylyltransferase A	Rattus norvegicus (Rat)	EV
Q9QZC4	Pcyt1b	Choline-phosphate cytidylyltransferase B	Rattus norvegicus (Rat)	PR
F4JJE0	CCT2	Choline-phosphate cytidylyltransferase 2	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MPVVTTDAES	ETGIPKSLSN	EPPSETMEEI	EHTCPQPRLT	LTAPAPFADE	TNCQCQAPHE
70	80	90	100	110	120
KLTIAQARLG	TPADRPVRVY	ADGIFDLFHS	GHARALMQAK	TLFPNSYLLV	GVCSDDLTHK
130	140	150	160	170	180
FKGFTVMNEA	ERYEALRHCR	YVDEVIRDAP	WTLTPEFLEK	HKIDFVAHDD	IPYSSAGSDD
190	200	210	220	230	240
VYKHIKEAGM	FVPTQRTEGI	STSDIITRIV	RDYDVYARRN	LQRGYTAKEL	NVSFINEKRY
250	260	270	280	290	300
RFQNQVDKMK	EKVKNVEERS	KEFVNRVEEK	SHDLIQKWEE	KSREFIGNFL	ELFGPDGAWK
310	320	330	340	350	360
QMFQERSSRM	LQALSPKQSP	VSSPTRSRSP	SRSPSPTFSW	LPLKTSPPSS	PKAASASISS

MSEGDEDEK