AiPD: Autoinhibited Protein Database

Q9NQG5

Gene name	RPRD1B (C20orf77, CREPT)
Protein name	Regulation of nuclear pre-mRNA domain-containing protein 1B
Names	Cell cycle-related and expression-elevated protein in tumor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:58490
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

98-205 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

98-205 (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

7 structures for Q9NQG5

Entry ID	Method	Resolution	Chain	Position	Source
4FLA	X-ray	220 A	A/B/C/D	172-305	PDB
4FU3	X-ray	190 A	A/B	2-135	PDB
4HFG	X-ray	200 A	A/B	2-135	PDB
4NAD	X-ray	280 A	A/B	177-326	PDB
4Q94	X-ray	185 A	A/B	2-135	PDB
4Q96	X-ray	185 A	A/B/D/E	2-135	PDB
AF-Q9NQG5-F1	Predicted				AlphaFoldDB

174 variants for Q9NQG5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA314366212 rs569603967	2	S>F		No	ClinGen gnomAD
CA9849736 rs540457724	3	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs540457724 CA408878602	3	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA9849737 rs148316804	7	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	10	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9849741 rs760006567	18	N>S		No	ClinGen ExAC TOPMed gnomAD
CA314366252 rs17853182	21	Q>H		No	ClinGen Ensembl
rs200559318 CA9849743	23	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA408878824 rs1190605520	36	H>D		No	ClinGen gnomAD
rs1390924572 CA408878834	37	A>V		No	ClinGen TOPMed gnomAD
CA408878837 rs1222942744	38	G>R		No	ClinGen TOPMed
CA9849747 rs767815952	39	P>A		No	ClinGen ExAC gnomAD
rs776063944 CA9849748	39	P>L		No	ClinGen ExAC gnomAD
rs1361240941 CA408878848	40	I>V		No	ClinGen gnomAD
TCGA novel	44	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754260598 CA9849751	49	R>C		No	ClinGen ExAC gnomAD
rs1228904911 CA408852621	53	S>*		No	ClinGen gnomAD
rs1321160205 CA408852624	54	N>D		No	ClinGen TOPMed gnomAD
CA314319379 rs950972666	54	N>K		No	ClinGen TOPMed
CA408852628 rs1219475146	54	N>S		No	ClinGen TOPMed gnomAD
CA408852643 rs1248614917	56	K>N		No	ClinGen gnomAD
rs767163526 CA9849776	59	F>L		No	ClinGen ExAC gnomAD
rs752254616 CA9849777	60	L>M		No	ClinGen ExAC gnomAD
CA9849778 rs755956292	62	L>*		No	ClinGen ExAC
TCGA novel	69	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408852760 rs1250373485	73	K>R		No	ClinGen TOPMed
TCGA novel	74	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314319455 rs1019399734	76	E>Q		No	ClinGen Ensembl
CA9849783 rs745957113	80	E>Q		No	ClinGen ExAC gnomAD
rs1408803488 CA408852884	91	H>R		No	ClinGen gnomAD
CA9849802 rs778997790	98	E>D		No	ClinGen ExAC gnomAD
CA9849805 rs780038337	109	N>S		No	ClinGen ExAC gnomAD
CA408853448 rs1321352536	113	E>K		No	ClinGen TOPMed
rs747109638 CA9849806	114	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA408853459 rs1568646251	114	R>L		No	ClinGen Ensembl
rs781420318 CA9849808	115	S>N		No	ClinGen ExAC gnomAD
TCGA novel	119	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347807101 CA408853487	119	G>S		No	ClinGen gnomAD
rs770108163 CA9849810	120	E>K		No	ClinGen ExAC gnomAD
rs773734663 CA408853506	121	F>L		No	ClinGen ExAC TOPMed gnomAD
rs749839848 CA9849812	122	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9849813 rs771394004	122	I>M		No	ClinGen ExAC gnomAD
rs749839848 CA408853509	122	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1053902479 TCGA novel CA314324519	129	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs539157849 CA9849815	129	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA408853564 rs1386989716	130	E>G		No	ClinGen TOPMed
CA408853560 rs1399770764	130	E>K		No	ClinGen gnomAD
rs776279789 CA9849817	131	D>E		No	ClinGen ExAC gnomAD
CA9849816 rs763665562	131	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	136	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408853610 rs1387832341	137	P>A		No	ClinGen gnomAD
CA9849818 rs140300358	137	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9849819 rs140300358	137	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140300358 CA9849820	137	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA408853608 rs1387832341	137	P>T		No	ClinGen gnomAD
CA408853611 rs1367484573	138	K>Q		No	ClinGen gnomAD
TCGA novel	139	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749665130 CA9849848	143	K>R		No	ClinGen ExAC gnomAD
CA9849849 rs757573392	144	K>E		No	ClinGen ExAC TOPMed gnomAD
rs779319790 CA9849850	146	L>V		No	ClinGen ExAC gnomAD
rs1206265745 CA408854335	148	R>*		No	ClinGen gnomAD
CA408854365 rs1482835675	150	F>L		No	ClinGen gnomAD
CA408854361 rs1251646255	150	F>S		No	ClinGen gnomAD
rs1198613066 CA408854381	151	Q>H		No	ClinGen gnomAD
CA408854437 rs1258219782	155	E>G		No	ClinGen gnomAD
CA9849851 rs746336457	158	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1446453046 CA408854485	158	D>H		No	ClinGen TOPMed gnomAD
CA408854483 rs1446453046	158	D>N		No	ClinGen TOPMed gnomAD
CA408854509 rs546528471	159	D>E		No	ClinGen ExAC TOPMed gnomAD
CA408854508 rs1235383050	159	D>G		No	ClinGen TOPMed
rs1044005609 CA314330448	160	D>N		No	ClinGen TOPMed gnomAD
CA408854525 rs1172869314	161	Y>H		No	ClinGen gnomAD
CA9849855 rs747650198	165	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1465879570 CA408854559	165	Y>H		No	ClinGen TOPMed gnomAD
CA9849854 rs747650198	165	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1408955312 CA408854575	166	S>C		No	ClinGen gnomAD
CA9849857 rs762690064	167	P>R		No	ClinGen ExAC gnomAD
CA9849858 rs370609624	170	P>L		No	ClinGen ESP ExAC gnomAD
rs1215940348 CA408854637 COSM478118	172	A>S	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA408854650 rs1295883432	173	G>E		No	ClinGen TOPMed gnomAD
CA408854654 rs1295883432	173	G>V		No	ClinGen TOPMed gnomAD
rs1555800605 CA408854667	175	L>R		No	ClinGen Ensembl
CA9849875 rs749022490	178	E>D		No	ClinGen ExAC gnomAD
CA408854813 rs1271470706	178	E>G		No	ClinGen gnomAD
CA408854827 rs1182043522	179	E>G		No	ClinGen gnomAD
CA314331617 rs553665838	182	K>R		No	ClinGen 1000Genomes
CA9849876 rs770462507	186	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1410412967 CA408854912	186	D>N		No	ClinGen gnomAD
rs774266149 CA408854953	189	N>D		No	ClinGen ExAC TOPMed gnomAD
rs774266149 CA9849877	189	N>H		No	ClinGen ExAC TOPMed gnomAD
CA408854955 rs774266149	189	N>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1495099 CA314331649 rs867316573	190	A>V	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1283640802 CA408854975	191	A>T		No	ClinGen TOPMed
rs1304603344 CA408855044	197	V>L		No	ClinGen gnomAD
rs764111448 CA9849882	207	E>D		No	ClinGen ExAC gnomAD
rs753892450 CA9849883	211	V>I		No	ClinGen ExAC gnomAD
TCGA novel	214	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408855247 rs1231588280	215	E>G		No	ClinGen gnomAD
rs758625420 CA9849887	217	I>V		No	ClinGen ExAC gnomAD
TCGA novel	219	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454573645 CA408855739	220	K>R		No	ClinGen gnomAD
TCGA novel	221	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383674673 CA408855782	223	A>G		No	ClinGen gnomAD
TCGA novel	224	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314336907 rs1009372282	224	E>K		No	ClinGen TOPMed
CA408855803 rs1568655667	225	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9849903 rs180688467	225	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs180688467 CA408855808	225	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1215535259 CA408855864	230	V>E		No	ClinGen gnomAD
CA314336916 rs878950589	230	V>L		No	ClinGen Ensembl
rs773267887 CA9849905	231	D>E		No	ClinGen ExAC gnomAD
TCGA novel	231	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9849904 rs765502563	231	D>H		No	ClinGen ExAC
TCGA novel	231	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	232	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	233	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs117067327 CA9849906	233	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA408855916 rs1401884488	234	C>F		No	ClinGen TOPMed
rs766902192 CA9849907	236	L>*		No	ClinGen ExAC gnomAD
CA9849909 rs532744102	237	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA9849908 rs751945190	237	L>V		No	ClinGen ExAC gnomAD
CA408855968 rs1171773272	238	A>V		No	ClinGen gnomAD
TCGA novel	239	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427026360 CA408855972	239	E>Q		No	ClinGen gnomAD
CA9849911 rs745443148	240	Y>*		No	ClinGen ExAC gnomAD
CA9849913 rs756651726	242	G>R		No	ClinGen ExAC gnomAD
CA408856033 rs1322748730	243	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9849914 rs778655838	243	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9849915 rs745460325	245	A>V		No	ClinGen ExAC gnomAD
CA9849916 rs758023516	249	E>Q		No	ClinGen ExAC
COSM1026574 rs201881637 CA314337030	251	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs142418683 CA9849917	251	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs746794689 CA9849918	252	R>C		No	ClinGen ExAC gnomAD
CA9849919 rs765188948	252	R>H		No	ClinGen ExAC TOPMed gnomAD
CA408856140 rs765188948	252	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9849920 rs564402391	253	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769715799 CA9849923	256	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769715799 CA9849922	256	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368133890 CA9849921	256	R>W		No	ClinGen ESP ExAC
CA9849924 rs763311238 CA408856188	257	M>I		No	ClinGen ExAC gnomAD
CA314337074 rs998730569	257	M>T		No	ClinGen Ensembl
rs1600420704 CA408856219	259	V>G		No	ClinGen Ensembl
CA408856230 rs1285817745	260	E>V		No	ClinGen gnomAD
rs1447217384 CA408856294	263	Q>H		No	ClinGen TOPMed gnomAD
rs528778798 CA9849926	264	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs528778798 CA9849925	264	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs964113923 CA314337102	266	K>R		No	ClinGen TOPMed
CA314337124 rs998560036	267	D>N		No	ClinGen TOPMed
CA408856405 rs1278812115	270	S>L		No	ClinGen TOPMed
rs1321425571 CA408856462	274	K>N		No	ClinGen TOPMed
rs1220558711 CA408856461	274	K>R		No	ClinGen TOPMed
TCGA novel	275	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	275	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257576135 CA408861051	279	Y>N		No	ClinGen TOPMed
rs1244617178 CA408861073	280	K>R		No	ClinGen TOPMed gnomAD
CA9849952 rs751165189	281	Q>R		No	ClinGen ExAC gnomAD
rs1299150824 CA408861177	284	A>G		No	ClinGen TOPMed
rs754639600 CA9849953	285	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568666093 CA408861197	286	V>I		No	ClinGen Ensembl
CA9849954 rs780892795	288	Q>H		No	ClinGen ExAC gnomAD
CA408861266 rs1479548214	290	R>C		No	ClinGen gnomAD
rs1197444884 CA408861280	290	R>H		No	ClinGen TOPMed gnomAD
CA314347783 rs866378163	295	S>F		No	ClinGen Ensembl
CA408861475 rs1399100971	299	S>I		No	ClinGen TOPMed
CA314347785 rs771287660	305	L>R		No	ClinGen Ensembl
CA408861797 rs1446642232	308	N>S		No	ClinGen gnomAD
TCGA novel	308	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356892450 CA408861837	309	V>A		No	ClinGen TOPMed
rs200179296 CA9849956	309	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	316	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9849962 rs534954435	319	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs769048043 CA9849965	325	T>A		No	ClinGen ExAC TOPMed gnomAD
rs769048043 CA408862305	325	T>S		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9NQG5

2 regional properties for Q9NQG5

Type	Name	Position	InterPro Accession
domain	CID domain	1 - 133	IPR006569
domain	Regulation of nuclear pre-mRNA domain-containing protein 1A/B	178 - 324	IPR032337

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
RNA polymerase II, holoenzyme	A nuclear DNA-directed RNA polymerase complex containing an RNA polymerase II core enzyme as well as additional proteins and transcription factor complexes, that are capable of promoter recognition and transcription initiation from an RNA polymerase II promoter in vivo. These additional components may include general transcription factor complexes TFIIA, TFIID, TFIIE, TFIIF, or TFIIH, as well as Mediator, SWI/SNF, GCN5, or SRBs and confer the ability to recognize promoters.

2 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
RNA polymerase II complex binding	Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits.

5 GO annotations of biological process

Name	Definition
dephosphorylation of RNA polymerase II C-terminal domain	The process of removing a phosphate group from an amino acid residue in the C-terminal domain of RNA polymerase II. Some dephosphorylation occurs during transcription while some may occur after the enzyme is released from the template in order to prepare it for the beginning of the transcription cycle again. RNA polymerase II with little or no phosphorylation is referred to as the hypophosphorylated or II(A) form.
mRNA 3'-end processing	Any process involved in forming the mature 3' end of an mRNA molecule.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of cell cycle process	Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96P16	RPRD1A	Regulation of nuclear pre-mRNA domain-containing protein 1A	Homo sapiens (Human)	PR
Q8VDS4	Rprd1a	Regulation of nuclear pre-mRNA domain-containing protein 1A	Mus musculus (Mouse)	PR
Q9CSU0	Rprd1b	Regulation of nuclear pre-mRNA domain-containing protein 1B	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSSFSESALE	KKLSELSNSQ	QSVQTLSLWL	IHHRKHAGPI	VSVWHRELRK	AKSNRKLTFL
70	80	90	100	110	120
YLANDVIQNS	KRKGPEFTRE	FESVLVDAFS	HVAREADEGC	KKPLERLLNI	WQERSVYGGE
130	140	150	160	170	180
FIQQLKLSME	DSKSPPPKAT	EEKKSLKRTF	QQIQEEEDDD	YPGSYSPQDP	SAGPLLTEEL
190	200	210	220	230	240
IKALQDLENA	ASGDATVRQK	IASLPQEVQD	VSLLEKITDK	EAAERLSKTV	DEACLLLAEY
250	260	270	280	290	300
NGRLAAELED	RRQLARMLVE	YTQNQKDVLS	EKEKKLEEYK	QKLARVTQVR	KELKSHIQSL
310	320
PDLSLLPNVT	GGLAPLPSAG	DLFSTD