AiPD: Autoinhibited Protein Database

P17480

Gene name	UBTF (UBF, UBF1)
Protein name	Nucleolar transcription factor 1
Names	Autoantigen NOR-90, Upstream-binding factor 1, UBF-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7343
EC number
Protein Class	UPSTREAM BINDING TRANSCRIPTION FACTOR (PTHR46318)

Descriptions

UBF1 recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').

Autoinhibitory domains (AIDs)

Target domain	48-563 (HMG box domain)
Relief mechanism
Assay	Peptide inhibitor test

AID

678-698 (D/E repeat)

Target domain

48-563 (HMG box domain)

Relief mechanism

Assay

Peptide inhibitor test

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

5 structures for P17480

Entry ID	Method	Resolution	Chain	Position	Source
1K99	NMR	-	A	103-192	PDB
1L8Y	NMR	-	A	479-560	PDB
1L8Z	NMR	-	A	479-560	PDB
2HDZ	X-ray	200 A	A	479-560	PDB
AF-P17480-F1	Predicted				AlphaFoldDB

333 variants for P17480

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000504592 RCV000625527 CA399765298 RCV001566123 rs1555582065 RCV000845031 RCV001265907 RCV000505522 RCV001420236 VAR_080139 RCV001195293	210	E>K	Variant assessed as Somatic; impact. Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability Rare syndromic intellectual disability UBTF-Related Disorder Inborn genetic diseases Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder UBTF E210K Neuroregression Syndrome CONDBA; increased RNA polymerase I core element sequence-specific DNA binding; increased transcription from RNA polymerase I promoter [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1392411800 CA399756347 RCV001262398	624	K>R	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs2056307553 RCV001199145	738	D>G	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [ClinVar]	Yes	ClinVar dbSNP
rs762350712 CA8599913 CA399771082	6	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399771090 rs1380928036	6	D>N		No	ClinGen gnomAD
CA290911611 rs143174266	8	P>L		No	ClinGen ESP gnomAD
rs1445552514 CA399771061	8	P>T		No	ClinGen gnomAD
CA399771032 rs140790168 CA8599912	10	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	10	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319419216 CA399770969	15	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8599911 rs146648895	16	P>S		No	ClinGen ESP ExAC TOPMed
CA399770953 rs1445706912	17	K>R		No	ClinGen gnomAD
CA399770797 rs1459362527	21	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8599894 rs752128430	21	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375395008 CA8599890	32	E>Q		No	ClinGen ESP ExAC gnomAD
rs1210837702 CA399769773	33	C>G		No	ClinGen TOPMed
CA399769762 rs1299576346	33	C>Y		No	ClinGen gnomAD
rs1598263759 CA399769662	37	N>T		No	ClinGen Ensembl
TCGA novel	42	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260565805 CA399769438	50	E>K		No	ClinGen gnomAD
rs1353983503 CA399769165	62	D>G		No	ClinGen TOPMed gnomAD
CA8599886 rs761832828	62	D>N		No	ClinGen ExAC
TCGA novel	68	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399768896 rs1231472868	75	I>L		No	ClinGen gnomAD
CA290910586 rs200988042	82	F>S		No	ClinGen 1000Genomes
rs1435585490 CA399768576	86	T>S		No	ClinGen TOPMed
CA8599850 rs751014085	96	V>I		No	ClinGen ExAC gnomAD
rs1385124109 CA399768172	105	L>I		No	ClinGen TOPMed
CA399768029 rs1598260509	108	H>P		No	ClinGen Ensembl
rs776388682 CA8599822	121	R>C		No	ClinGen ExAC gnomAD
rs1244456717 CA399767839	124	M>T		No	ClinGen gnomAD
rs1467180338 CA399767780	132	K>R		No	ClinGen Ensembl
CA399767768 rs1567805386	134	H>Y		No	ClinGen Ensembl
rs1405001659 CA399767739	138	S>G		No	ClinGen TOPMed
CA8599818 rs772193862	141	D>N		No	ClinGen ExAC gnomAD
rs749872165 CA8599814	156	K>N		No	ClinGen ExAC gnomAD
rs1437878579 CA399767610	156	K>R		No	ClinGen gnomAD
CA399767603 rs1316689321	157	K>R		No	ClinGen gnomAD
CA399766607 rs1244701669 COSM979917	159	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	163	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426632040 CA399766459	166	Q>R		No	ClinGen TOPMed gnomAD
rs746205652 CA8599789	174	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	177	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567800568 CA399765621	191	K>R		No	ClinGen Ensembl
CA8599758 rs532196673	193	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs758734956 CA8599756	194	D>V		No	ClinGen ExAC gnomAD
rs565421581 CA290909692	195	I>V		No	ClinGen 1000Genomes
CA290909687 rs939472336	201	T>P		No	ClinGen TOPMed gnomAD
TCGA novel	203	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530698248 CA290909683	208	T>N		No	ClinGen TOPMed
CA8599752 rs766881272	209	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399765276 rs1224153492	211	K>R		No	ClinGen gnomAD
rs760976185 CA8599750	213	V>L		No	ClinGen ExAC gnomAD
CA8599718 rs747988203	223	T>A		No	ClinGen ExAC gnomAD
rs372626678 CA290909558	223	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372626678 CA8599717	223	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598243442 CA399764418	226	V>G		No	ClinGen Ensembl
CA290909555 rs866221738	229	S>F		No	ClinGen Ensembl
rs1482663925 CA399764275	237	L>F		No	ClinGen gnomAD
rs1256065868 CA399764253	238	S>L		No	ClinGen gnomAD
TCGA novel	239	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598243221 CA399764051	253	R>Q		No	ClinGen Ensembl
TCGA novel	255	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8599712 rs750865992	255	E>Q		No	ClinGen ExAC gnomAD
CA399764013 rs1221664874	257	E>Q		No	ClinGen TOPMed
TCGA novel	258	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs34864025 CA8599682	270	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399763598 rs567808617	272	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1310055649 CA399763503	277	I>L		No	ClinGen gnomAD
rs1310055649 CA399763506	277	I>V		No	ClinGen gnomAD
rs774001412 CA290909445	279	K>N		No	ClinGen ExAC gnomAD
CA399763408 rs1329786029	281	T>I		No	ClinGen gnomAD
CA290909441 rs74802986	282	L>I		No	ClinGen Ensembl
rs749097461 CA8599675	285	A>T		No	ClinGen ExAC gnomAD
rs1471123459 CA399763122	296	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399763012 rs1361768208	302	P>L		No	ClinGen TOPMed
rs1567797466 RCV000760855 CA399762778	308	Y>*		No	ClinGen ClinVar Ensembl dbSNP
COSM979915 CA399762752 rs1168315138	310	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	311	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	312	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9905749 CA290909380	315	N>D		No	ClinGen Ensembl
rs765084745 CA8599638	315	N>T		No	ClinGen ExAC TOPMed gnomAD
rs866948574 CA290909376	322	T>I		No	ClinGen Ensembl
CA399762459 rs1198532291	326	V>M		No	ClinGen gnomAD
CA399762418 rs1485734313	329	S>G		No	ClinGen gnomAD
rs1216025875 CA399762402 COSM706175	330	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399762370 rs1313771483	332	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs112603806 CA290909369	338	K>R		No	ClinGen Ensembl
CA399762241 rs1445939879	342	A>T		No	ClinGen gnomAD
CA8599633 rs773204095	342	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399762176 rs1413280440	346	K>R		No	ClinGen gnomAD
rs1446558939	349	Q>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1434356013 CA399762060	349	Q>K		No	ClinGen TOPMed
CA8599615 rs773327581	350	K>R		No	ClinGen ExAC gnomAD
TCGA novel	351	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772343806 CA8599614	353	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399761921 rs1567796743	355	E>K		No	ClinGen Ensembl
CA8599611 rs769320056	359	L>F		No	ClinGen ExAC gnomAD
CA399761852 rs1309107358 COSM1383628	360	R>H	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA399761746 rs1311372864	364	S>N		No	ClinGen TOPMed
rs747622689 CA8599586	365	L>V		No	ClinGen ExAC gnomAD
rs1250548362 CA399761729	366	P>S		No	ClinGen gnomAD
TCGA novel	369	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399761658 rs1309425864	371	Q>E		No	ClinGen gnomAD
rs956874450 CA290909183	375	G>E		No	ClinGen TOPMed
rs1451954186 CA399761607	375	G>R		No	ClinGen gnomAD
CA399761515 rs1359949094	382	I>N		No	ClinGen TOPMed
CA8599582 rs551517205	382	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8599580 rs750276844	386	Q>R		No	ClinGen ExAC gnomAD
rs1598235306 CA399761446	387	A>P		No	ClinGen Ensembl
rs767818091 CA8599578	388	T>N		No	ClinGen ExAC gnomAD
CA399761436 rs1168785704	388	T>P		No	ClinGen gnomAD
rs374657112 CA290909170	391	A>T		No	ClinGen ESP TOPMed gnomAD
rs1249576092 CA399761345	395	P>L		No	ClinGen gnomAD
rs147228649 CA8599573	396	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399761325 rs759852295	397	Q>P		No	ClinGen ExAC gnomAD
rs759852295 CA8599571	397	Q>R		No	ClinGen ExAC gnomAD
rs771687996 CA8599569	399	G>V		No	ClinGen ExAC gnomAD
TCGA novel	400	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399761282 rs1317246008	400	G>V		No	ClinGen TOPMed gnomAD
rs1446560793 CA399761219	402	G>R		No	ClinGen gnomAD
rs781283418 CA8599544	405	E>K		No	ClinGen ExAC TOPMed gnomAD
rs990401376 CA290909086	408	K>R		No	ClinGen TOPMed
CA399761138 rs1284857386	409	R>Q		No	ClinGen gnomAD
CA8599541 rs777820337	409	R>W		No	ClinGen ExAC TOPMed gnomAD
rs752694009 CA399761117	411	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8599539 rs752694009	411	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8599538 rs2097820	412	S>L		No	ClinGen ExAC gnomAD
CA290909075 rs2097820	412	S>W		No	ClinGen ExAC gnomAD
CA290909070 rs868112496	413	A>T		No	ClinGen Ensembl
rs1406279055 CA399761082	414	M>I		No	ClinGen TOPMed
rs1166443068 CA399760990	421	K>R		No	ClinGen gnomAD
TCGA novel	422	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195359157 CA399760967	423	R>Q		No	ClinGen gnomAD
rs1243113690 CA399760924	427	E>K		No	ClinGen gnomAD
CA399760893 rs1271317542	429	R>Q		No	ClinGen gnomAD
TCGA novel	432	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	434	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379897365 CA399760839	434	E>K		No	ClinGen TOPMed gnomAD
CA290909052 rs956926890	437	L>V		No	ClinGen TOPMed gnomAD
CA399760783 rs1453285060	438	T>I		No	ClinGen gnomAD
rs769367073 CA8599528	439	R>H		No	ClinGen ExAC gnomAD
rs759134397 CA8599527	440	L>V		No	ClinGen ExAC gnomAD
CA290909047 rs868696882	442	A>S		No	ClinGen Ensembl
rs1384670964 CA399760739	443	R>*		No	ClinGen gnomAD
CA399760726 rs1184819943	444	M>L		No	ClinGen gnomAD
TCGA novel	445	W>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	451	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290909042 rs979609971	453	K>E		No	ClinGen Ensembl
rs780167231 CA8599496	456	Y>C		No	ClinGen ExAC gnomAD
CA399758703 rs1344596933	457	K>R		No	ClinGen gnomAD
CA399758695 rs1198945722	458	A>T		No	ClinGen gnomAD
CA399758684 rs1307765274	458	A>V		No	ClinGen TOPMed
rs1284220436 CA399758678	459	R>Q		No	ClinGen gnomAD
CA399758652 rs1417141819	461	A>G		No	ClinGen TOPMed
TCGA novel	461	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399758641 rs1282989801	462	A>V		No	ClinGen TOPMed
CA290908191 rs946929656	463	L>F		No	ClinGen Ensembl
CA399758608 rs1297818859	465	A>G		No	ClinGen TOPMed
rs751902964 CA8599491	467	S>L		No	ClinGen ExAC gnomAD
CA8599492 rs757597741	467	S>T		No	ClinGen ExAC gnomAD
rs1430410643 CA399758573	468	E>D		No	ClinGen gnomAD
rs754723249 CA8599489	468	E>K		No	ClinGen ExAC gnomAD
CA399758563 rs1176796297	469	R>K		No	ClinGen TOPMed gnomAD
CA399758551 rs1259070400	470	K>R		No	ClinGen TOPMed gnomAD
rs766049083 CA8599486	471	P>S		No	ClinGen ExAC gnomAD
rs1567793727 CA399758528	472	G>A		No	ClinGen Ensembl
CA8599484 rs148865369	472	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767377526 CA8599483	473	G>R		No	ClinGen ExAC gnomAD
CA399758516 COSM1194241 rs1263521362	474	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399758497 rs1235720175	475	R>C		No	ClinGen gnomAD
rs1186525781 CA399758495	475	R>H		No	ClinGen TOPMed
TCGA novel	476	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8599481 rs774169862	477	E>D		No	ClinGen ExAC gnomAD
CA290908167 rs532805762	479	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA8599474 rs771384325	483	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399758400 rs1332758887	483	E>V		No	ClinGen TOPMed
rs1370943338 CA399758386	484	S>F		No	ClinGen gnomAD
CA8599472 rs370582103	486	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1432144889 CA399758323	489	E>D		No	ClinGen TOPMed
TCGA novel	502	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220680854 CA399758134	503	R>C		No	ClinGen TOPMed
rs1567793041 CA399757998	508	R>Q		No	ClinGen Ensembl
COSM979914 rs1207491061 CA399758000	508	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs760846836 CA8599437	510	K>R		No	ClinGen ExAC TOPMed
rs1363026286 CA399757933	513	K>N		No	ClinGen gnomAD
rs1182568358 CA399757919	515	M>L		No	ClinGen gnomAD
rs774625966 CA8599433	525	K>E		No	ClinGen ExAC gnomAD
CA8599432 rs769472698	527	K>R		No	ClinGen ExAC gnomAD
rs2071167 CA399757647	533	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399757657 rs1246455374	533	K>Q		No	ClinGen TOPMed
CA8599430 rs780913715	536	E>K		No	ClinGen ExAC gnomAD
TCGA novel	537	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8599398 rs373069039	546	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163448752 CA399757398	547	E>D		No	ClinGen gnomAD
rs1424490260 CA399757367	550	A>S		No	ClinGen gnomAD
CA399757293 rs1387309975	557	S>P		No	ClinGen TOPMed
COSM1479626 rs1474551826 CA399757241	561	M>T	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs774672822 CA8599396	561	M>V		No	ClinGen ExAC gnomAD
rs1294987686 CA399757196	564	Q>R		No	ClinGen TOPMed
rs763197940 CA8599394	568	K>R		No	ClinGen ExAC gnomAD
CA8599393 rs775975073	572	M>L		No	ClinGen ExAC gnomAD
rs1049295931 CA290907803	582	L>V		No	ClinGen Ensembl
rs1598223863 CA399756884	585	N>K		No	ClinGen Ensembl
CA8599366 rs780144218	585	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770449694 CA290907797	586	G>R		No	ClinGen Ensembl
CA399756836 rs1290503594	589	N>T		No	ClinGen gnomAD
CA8599364 rs201161044	590	H>P		No	ClinGen ExAC gnomAD
CA399756792 rs1439246240	592	P>L		No	ClinGen gnomAD
TCGA novel	594	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399756655 rs1598223602	602	S>R		No	ClinGen Ensembl
CA290907777 rs925833001	602	S>T		No	ClinGen TOPMed gnomAD
CA399756646 rs1275063320	603	R>H		No	ClinGen TOPMed
CA399756609 rs1191232489	606	R>C		No	ClinGen gnomAD
rs765751452 CA8599357	606	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759852224 CA8599356	607	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	608	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754238904 CA8599355	610	S>T		No	ClinGen ExAC gnomAD
rs921622954 CA290907759	614	H>R		No	ClinGen Ensembl
CA8599351 rs199707130	616	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1320552786 CA399756410	620	E>D		No	ClinGen gnomAD
CA399756420 rs1359926895	620	E>K		No	ClinGen gnomAD
rs1436378504 CA399756403	621	E>Q		No	ClinGen gnomAD
CA8599347 rs149870842	629	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1391306411 CA399756278	629	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	635	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290907151 rs370509178	640	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386170926 CA399755373	640	Q>R		No	ClinGen gnomAD
CA399755353 rs1295199774	641	D>A		No	ClinGen TOPMed gnomAD
rs1420476496 CA399755341	641	D>E		No	ClinGen TOPMed
CA8599321 rs773439809	642	R>C		No	ClinGen ExAC gnomAD
rs1598214375 CA399755325	642	R>H		No	ClinGen Ensembl
rs757463776 CA290907136	651	N>S		No	ClinGen gnomAD
CA399755044 rs1276144399	653	R>H		No	ClinGen gnomAD
CA8599297 rs768664448	655	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8599296 rs749349280	656	M>T		No	ClinGen ExAC gnomAD
rs916841838 CA290907091	656	M>V		No	ClinGen TOPMed gnomAD
CA290907087 rs11558400	657	T>I		No	ClinGen Ensembl
CA399754924 rs1364315597	658	K>R		No	ClinGen gnomAD
rs1598213515 TCGA novel CA399754890	660	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA8599294 rs770253808	661	G>C		No	ClinGen ExAC gnomAD
rs746232149 CA8599293	664	P>A		No	ClinGen ExAC gnomAD
CA399754737 rs1415186544	668	R>G		No	ClinGen gnomAD
CA8599291 rs373152562	668	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	668	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290907072 rs957847349	670	T>A		No	ClinGen Ensembl
RCV000598806 CA399754697 rs1555577265	672	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs752343603 CA8599290	674	K>E		No	ClinGen ExAC gnomAD
CA8599288 rs754502227	675	S>L		No	ClinGen ExAC gnomAD
TCGA novel	676	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290907010 rs867081057	677	S>F		No	ClinGen Ensembl
CA8599257 rs775787107	678	E>K		No	ClinGen ExAC gnomAD
CA399754414 rs1260801054	679	E>A		No	ClinGen TOPMed
CA8599256 rs113823176	680	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228725302 CA399754385	680	D>G		No	ClinGen gnomAD
CA399754398 rs1289021151	680	D>N		No	ClinGen gnomAD
CA399754354 rs1244232316	681	D>E		No	ClinGen TOPMed
CA399754360 COSM3402929 rs1286769360	681	D>G	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8599254 rs777240964	683	E>Q		No	ClinGen ExAC gnomAD
rs142426190 CA8599249	687	D>E		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs771610122 CA8599247	688	E>G		No	ClinGen ExAC gnomAD
rs1006899237 CA290907002	690	E>D		No	ClinGen Ensembl
CA399754144 rs1174382476 COSM1302882	690	E>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs747351800 CA8599246	691	D>E		No	ClinGen ExAC gnomAD
rs773766201 CA8599245	692	E>A		No	ClinGen ExAC TOPMed gnomAD
CA399754086 rs1472027385	693	E>G		No	ClinGen gnomAD
CA399754098 rs1156508911	693	E>K		No	ClinGen TOPMed gnomAD
rs200936318 CA290906995	694	E>G		No	ClinGen 1000Genomes
rs1412094893 CA399754014	696	D>E		No	ClinGen gnomAD
CA399753980 rs1178473771	698	E>K		No	ClinGen gnomAD
rs1051028040 CA290906991	700	G>E		No	ClinGen TOPMed gnomAD
CA8599242 rs748823079	700	G>R		No	ClinGen ExAC gnomAD
CA8599241 rs779768259	701	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781085881 CA8599239	705	D>E		No	ClinGen ExAC gnomAD
rs751352914 CA8599236	707	G>S		No	ClinGen ExAC gnomAD
CA8599234 rs758229343	708	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752816528 CA8599232	709	S>A		No	ClinGen ExAC TOPMed gnomAD
CA8599231 rs765531161	709	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs907630141 CA290906984	711	E>D		No	ClinGen TOPMed gnomAD
CA399753661 rs1386924495	713	S>G		No	ClinGen gnomAD
TCGA novel	714	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400909060 CA399753628	714	S>N		No	ClinGen gnomAD
CA290906982 rs1054670510	715	E>Q		No	ClinGen gnomAD
CA8599229 rs776895433	716	D>N		No	ClinGen ExAC gnomAD
rs1160826877 CA399753606	717	E>K		No	ClinGen gnomAD
CA8599228 rs766975853	718	S>C		No	ClinGen ExAC gnomAD
rs1286910250 CA399753591	719	E>K		No	ClinGen TOPMed gnomAD
CA399753590 rs1286910250	719	E>Q		No	ClinGen TOPMed gnomAD
CA8599227 rs483352703	722	D>N		No	ClinGen ExAC gnomAD
RCV000087180 rs483352703 CA229066	722	D>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs773857862 CA8599226	723	E>G		No	ClinGen ExAC gnomAD
rs1229707048 CA399753503	727	D>E		No	ClinGen gnomAD
rs762052935 CA8599204	729	E>Q		No	ClinGen ExAC gnomAD
rs769404015 CA8599203	730	D>N		No	ClinGen ExAC gnomAD
CA8599201 rs759120812	731	E>D		No	ClinGen ExAC
CA8599199 rs145436194 CA8599196	732	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290906952 rs368537570	733	D>N		No	ClinGen ESP TOPMed gnomAD
rs374204903 CA8599194	734	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371590787 CA290906948	735	E>D		No	ClinGen ESP TOPMed
rs765021196 CA290906949	735	E>K		No	ClinGen TOPMed gnomAD
CA290906946 rs376920092	737	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA399753434 rs1389924319	737	D>H		No	ClinGen TOPMed
rs906863093 CA290906944	738	D>E		No	ClinGen TOPMed gnomAD
rs1352360561 CA399753428	738	D>N		No	ClinGen TOPMed
rs745419301 CA290906943	739	E>D		No	ClinGen ExAC gnomAD
CA399753417 rs1567785196	739	E>G		No	ClinGen Ensembl
CA399753409 rs1418921242	740	D>V		No	ClinGen gnomAD
rs754058648 CA8599186	741	E>G		No	ClinGen ExAC gnomAD
CA8599183 rs756223875	742	D>E		No	ClinGen ExAC gnomAD
CA8599184 rs780448631	742	D>H		No	ClinGen ExAC gnomAD
CA399753398 rs780448631	742	D>N		No	ClinGen ExAC gnomAD
TCGA novel	744	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750556487 CA8599182	745	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1055126035 CA290906937	746	E>D		No	ClinGen gnomAD
CA399753359 rs1234672361	747	G>S		No	ClinGen gnomAD
rs752012185 CA8599179	748	S>C		No	ClinGen ExAC gnomAD
rs752012185 CA399753349	748	S>G		No	ClinGen ExAC gnomAD
rs1442793461 CA399753345	748	S>R		No	ClinGen Ensembl
rs764382592 CA8599178	749	S>G		No	ClinGen ExAC gnomAD
CA399753340 rs1391924812	749	S>N		No	ClinGen gnomAD
CA290906935 rs936210777	751	S>T		No	ClinGen gnomAD
rs1340719008 CA399753297	754	S>P		No	ClinGen TOPMed
rs1216366792 CA399753289	755	S>P		No	ClinGen TOPMed
CA399753281 rs1291703093	756	G>R		No	ClinGen gnomAD
rs1418224220 CA399753270	757	D>A		No	ClinGen gnomAD
CA399753263 rs1471706919	758	S>P		No	ClinGen gnomAD
rs984522296 CA290906931	762	D>E		No	ClinGen TOPMed gnomAD
CA399753210 rs1182678863	764	N>D		No	ClinGen gnomAD
rs776223010 CA290906929	764	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8599176 rs776223010	764	N>T		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with P17480

[MIM: 617672]: Neurodegeneration, childhood-onset, with brain atrophy (CONDBA)

An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability. . Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P17480

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P17480

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus
PANTHER Family	PTHR46318	UPSTREAM BINDING TRANSCRIPTION FACTOR
PANTHER Subfamily	PTHR46318:SF4	NUCLEOLAR TRANSCRIPTION FACTOR 1
PANTHER Protein Class	DNA-binding transcription factor gene-specific transcriptional regulator
PANTHER Pathway Category	General transcription by RNA polymerase I UBF1

4 GO annotations of cellular component

Name	Definition
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

6 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA polymerase I cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase I. RNA polymerase I elements are referred to either enhancers or upstream control element (UCE, or alternately referred to as the upstream element).
RNA polymerase I core promoter sequence-specific DNA binding	Binding to a regulatory region composed of the transcription start site and binding sites for transcription factors of the RNA polymerase I transcription machinery. This site is often referred to as the CORE element. In mammalian cells, the CORE element functions in conjunction with the Upstream Control Element (UCE), while in fungi, protozoa, and plants, the CORE element functions without a UCE.
RNA polymerase I general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase I. Factors required for RNA polymerase I transcription initiation include upstream activation factor (UAF), core factor (CF), TATA binding protein (TBP) and RRN3. In all species characterized, RNA polymerase I transcribes a large polycistronic transcript that is processed into several mature rRNAs (3 or 4 depending on the species), including the large subunit rRNA (28S in humans), the small subunit rRNA (18S in humans), as well as one or two additional smaller rRNAs (the 5.8S rRNA in humans). In most species, this large rRNA transcript is the sole product of RNA polymerase I. However there are rare exceptions, such as Trypanosoma brucei, where RNA polymerase I also transcribes certain mRNAs.
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.

3 GO annotations of biological process

Name	Definition
positive regulation of transcription by RNA polymerase I	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.
transcription by RNA polymerase I	The synthesis of RNA from a DNA template by RNA polymerase I (RNAP I), originating at an RNAP I promoter.
transcription initiation at RNA polymerase I promoter	A transcription initiation process that takes place at a RNA polymerase I gene promoter. Ribosomal RNAs (rRNA) genes are transcribed by RNA polymerase I.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32L34	HMGB4	High mobility group protein B4	Bos taurus (Bovine)	PR
Q0II87	TFAM	Transcription factor A, mitochondrial	Bos taurus (Bovine)	PR
Q00059	TFAM	Transcription factor A, mitochondrial	Homo sapiens (Human)	PR
P0CB48	UBTFL6	Putative upstream-binding factor 1-like protein 6	Homo sapiens (Human)	PR
P40630	Tfam	Transcription factor A, mitochondrial	Mus musculus (Mouse)	PR
Q3USZ2	Ubtfl1	Upstream-binding factor 1-like protein 1	Mus musculus (Mouse)	PR
P25976	Ubtf	Nucleolar transcription factor 1	Mus musculus (Mouse)	PR
Q5D144	TFAM	Transcription factor A, mitochondrial	Sus scrofa (Pig)	PR
P25977	Ubtf	Nucleolar transcription factor 1	Rattus norvegicus (Rat)	PR
Q9T012	HMGB13	High mobility group B protein 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SUP7	HMGB6	High mobility group B protein 6	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNGEADCPTD	LEMAAPKGQD	RWSQEDMLTL	LECMKNNLPS	NDSSKFKTTE	SHMDWEKVAF
70	80	90	100	110	120
KDFSGDMCKL	KWVEISNEVR	KFRTLTELIL	DAQEHVKNPY	KGKKLKKHPD	FPKKPLTPYF
130	140	150	160	170	180
RFFMEKRAKY	AKLHPEMSNL	DLTKILSKKY	KELPEKKKMK	YIQDFQREKQ	EFERNLARFR
190	200	210	220	230	240
EDHPDLIQNA	KKSDIPEKPK	TPQQLWYTHE	KKVYLKVRPD	ATTKEVKDSL	GKQWSQLSDK
250	260	270	280	290	300
KRLKWIHKAL	EQRKEYEEIM	RDYIQKHPEL	NISEEGITKS	TLTKAERQLK	DKFDGRPTKP
310	320	330	340	350	360
PPNSYSLYCA	ELMANMKDVP	STERMVLCSQ	QWKLLSQKEK	DAYHKKCDQK	KKDYEVELLR
370	380	390	400	410	420
FLESLPEEEQ	QRVLGEEKML	NINKKQATSP	ASKKPAQEGG	KGGSEKPKRP	VSAMFIFSEE
430	440	450	460	470	480
KRRQLQEERP	ELSESELTRL	LARMWNDLSE	KKKAKYKARE	AALKAQSERK	PGGEREERGK
490	500	510	520	530	540
LPESPKRAEE	IWQQSVIGDY	LARFKNDRVK	ALKAMEMTWN	NMEKKEKLMW	IKKAAEDQKR
550	560	570	580	590	600
YERELSEMRA	PPAATNSSKK	MKFQGEPKKP	PMNGYQKFSQ	ELLSNGELNH	LPLKERMVEI
610	620	630	640	650	660
GSRWQRISQS	QKEHYKKLAE	EQQKQYKVHL	DLWVKSLSPQ	DRAAYKEYIS	NKRKSMTKLR
670	680	690	700	710	720
GPNPKSSRTT	LQSKSESEED	DEEDEDDEDE	DEEEEDDENG	DSSEDGGDSS	ESSSEDESED
730	740	750	760
GDENEEDDED	EDDDEDDDED	EDNESEGSSS	SSSSSGDSSD	SDSN