AiPD: Autoinhibited Protein Database

Q9H063

Gene name	MAF1
Protein name	Repressor of RNA polymerase III transcription MAF1 homolog
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84232
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

13-114 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

13-114 (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

2 structures for Q9H063

Entry ID	Method	Resolution	Chain	Position	Source
3NR5	X-ray	155 A	A	1-205	PDB
AF-Q9H063-F1	Predicted				AlphaFoldDB

130 variants for Q9H063

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA372554666 rs1420201583	8	S>R		No	ClinGen gnomAD
CA4934063 rs766596518	9	F>L		No	ClinGen ExAC gnomAD
CA187623173 rs368525413	12	I>V		No	ClinGen ESP TOPMed
rs1486375036 CA372555026	15	Q>E		No	ClinGen TOPMed
CA372555340 rs1473011008	21	G>E		No	ClinGen gnomAD
CA372555308 rs1386076278	21	G>R		No	ClinGen gnomAD
rs1587618550 CA372555457	23	A>V		No	ClinGen Ensembl
CA372555522 rs1293982201	25	I>V		No	ClinGen TOPMed
CA4934108 rs755875968	29	I>L		No	ClinGen ExAC gnomAD
TCGA novel	32	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435210889 CA372556466	36	M>I		No	ClinGen TOPMed
TCGA novel	36	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754615366 CA4934111	37	A>S		No	ClinGen ExAC gnomAD
rs747634446 CA187623376	39	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759030326 CA4934114	40	D>N		No	ClinGen ExAC gnomAD
rs1231145215 CA372556729	43	M>V		No	ClinGen gnomAD
CA4934116 rs747427525	44	F>Y		No	ClinGen ExAC gnomAD
rs1196513610 CA372556917	47	F>Y		No	ClinGen TOPMed
rs1235736736 CA372557102	52	Q>E		No	ClinGen TOPMed
rs770003038 CA187623404	55	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4934120 rs770003038	55	V>M		No	ClinGen ExAC TOPMed gnomAD
CA372557313 rs1328934165	58	A>T		No	ClinGen TOPMed
rs866663619 CA187623437	61	P>L		No	ClinGen Ensembl
CA4934121 rs140042949	61	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	63	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4934123 rs767486499	67	L>P		No	ClinGen ExAC gnomAD
rs1297766898 CA372557652	68	S>I		No	ClinGen TOPMed gnomAD
rs760553615 CA4934125	71	R>K		No	ClinGen ExAC TOPMed gnomAD
rs200075787 CA4934139	73	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1269937994 CA372558008	73	S>I		No	ClinGen gnomAD
CA4934140 rs200075787	73	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760606899 CA4934143	75	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4934142 rs774370156	75	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1472782008 CA372558302	79	E>K		No	ClinGen TOPMed
rs776345138 CA372558427	80	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4934146 rs759369208	82	G>S		No	ClinGen ExAC gnomAD
CA4934147 rs764837171	85	S>G		No	ClinGen ExAC gnomAD
rs375767637 CA4934148	85	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA372558747 rs758085288	86	D>E		No	ClinGen ExAC TOPMed gnomAD
CA372558924 rs1489119468	90	R>C		No	ClinGen TOPMed
CA4934150 rs763703723	92	T>S		No	ClinGen ExAC gnomAD
CA372559163 rs757765007	95	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA187623570 COSM3395198 rs78648437	101	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4934156 rs573875084	105	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1354218268 CA372559437	105	R>S		No	ClinGen TOPMed
rs1587619183 CA372559682	112	T>A		No	ClinGen Ensembl
CA4934158 rs374116632	114	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372559745 rs1587619190	114	R>S		No	ClinGen Ensembl
CA4934159 rs778975473	115	S>N		No	ClinGen ExAC gnomAD
rs964877304 CA187623584	119	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	119	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748211287 CA4934160	119	S>T		No	ClinGen ExAC gnomAD
rs770838568 CA4934161	120	R>Q		No	ClinGen ExAC gnomAD
CA187623588 rs929095877	120	R>W		No	ClinGen gnomAD
rs1587619214 CA372560128	125	S>N		No	ClinGen Ensembl
CA372560164 rs1175704280	126	W>R		No	ClinGen gnomAD
CA4934187 rs761327196	131	V>I		No	ClinGen ExAC gnomAD
TCGA novel	137	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4934191 rs766854897	137	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765491765 COSM1455589 CA4934194	140	R>Q	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4934193 rs755303502	140	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372560931 rs1405926266	144	K>E		No	ClinGen gnomAD
CA372560937 rs1367174550	144	K>R		No	ClinGen gnomAD
rs1476892561 CA372561125	149	Q>R		No	ClinGen TOPMed
rs777923769 CA4934197	151	W>*		No	ClinGen ExAC
CA187623747 rs896605515	153	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372561316 rs1200056843	154	V>A		No	ClinGen TOPMed
CA4934200 rs780105616	155	D>G		No	ClinGen ExAC TOPMed gnomAD
CA372561391 rs1587619427	156	E>K		No	ClinGen Ensembl
rs1587619436 CA372561420	157	E>Q		No	ClinGen Ensembl
CA372561542 rs1217136865	161	A>T		No	ClinGen TOPMed
rs1209358891 COSM1755630 CA372561709	166	Y>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778714544 CA4934237	173	D>Y		No	ClinGen ExAC gnomAD
CA187623971 rs1016350399	176	P>L		No	ClinGen TOPMed
rs752579869 CA4934238	176	P>S		No	ClinGen ExAC gnomAD
CA372562902 rs1430801666	183	L>V		No	ClinGen gnomAD
rs1564318133 CA372563070	187	N>I		No	ClinGen Ensembl
CA187624005 rs946678901	188	Y>N		No	ClinGen TOPMed
rs1043935892 CA187624043	189	F>Y		No	ClinGen TOPMed
rs376422932 CA4934246	192	N>K		No	ClinGen ESP ExAC gnomAD
rs1232429390 CA372563351	194	R>Q		No	ClinGen gnomAD
CA4934247 rs775836372	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768929438 CA4934249	199	V>I		No	ClinGen ExAC gnomAD
rs767842852 CA4934252	200	F>V		No	ClinGen ExAC gnomAD
CA372563563 rs1259382016	202	S>R		No	ClinGen TOPMed
rs1267504636 CA372563558	202	S>T		No	ClinGen gnomAD
rs760808237 CA4934254	204	R>C		No	ClinGen ExAC TOPMed gnomAD
CA372563595 rs1191436253	204	R>H		No	ClinGen gnomAD
TCGA novel	205	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587619832 CA372563892	210	T>P		No	ClinGen Ensembl
rs1170727432 CA372563992	213	P>L		No	ClinGen TOPMed
rs549151505 CA4934284	213	P>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM4138643 CA372564016 rs1354690381	214	S>L	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1230957498 CA372564029	215	E>V		No	ClinGen gnomAD
CA372564063 rs1329211194	216	A>V		No	ClinGen gnomAD
rs538046198 CA4934287	218	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4934286 rs567306961	218	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs772589555 CA4934289	219	E>K		No	ClinGen ExAC TOPMed gnomAD
CA372564183 rs1257455261	222	M>V		No	ClinGen TOPMed gnomAD
rs771127212 CA4934292	225	G>R		No	ClinGen ExAC gnomAD
rs1311364593 CA372564246	227	E>K		No	ClinGen TOPMed
rs759630462 CA4934294	228	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1467412060 CA372564291	228	E>V		No	ClinGen gnomAD
CA4934295 rs151135525	229	V>E		No	ClinGen ExAC TOPMed gnomAD
CA4934296 rs774292444	230	E>K		No	ClinGen ExAC gnomAD
rs376804374 CA4934298	231	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304427405 CA372564404	233	S>R		No	ClinGen gnomAD
rs376042229 CA4934299	233	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4934301 rs755776322	235	S>R		No	ClinGen ExAC TOPMed gnomAD
CA372564497 CA4934302 rs11546144 VAR_060408	236	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4934303 rs370409437	237	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208008412 CA372564554	238	S>I		No	ClinGen gnomAD
CA187624395 rs373891300	238	S>R		No	ClinGen ESP TOPMed
rs1253087100 CA372564582	240	A>T		No	ClinGen gnomAD
rs758910975 CA4934306	241	E>D		No	ClinGen ExAC TOPMed gnomAD
rs748697004 CA4934305	241	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1173224199 CA372567336	243	T>I		No	ClinGen gnomAD
CA372567347 rs1173224199	243	T>S		No	ClinGen gnomAD
CA4934307 rs778296329	244	S>G		No	ClinGen ExAC gnomAD
rs1252806298 CA372567390	244	S>I		No	ClinGen TOPMed
CA4934308 rs747387473	244	S>R		No	ClinGen ExAC gnomAD
rs921889629 CA187624417	246	M>I		No	ClinGen TOPMed
CA4934309 rs771097973	246	M>V		No	ClinGen ExAC TOPMed gnomAD
CA372568416 rs1163537675	250	R>S		No	ClinGen gnomAD
CA187624548 rs550003173	252	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	253	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4934330 rs746104535	254	I>M		No	ClinGen ExAC gnomAD
rs1326277011 CA372568512	254	I>T		No	ClinGen gnomAD
CA372568509 rs1190288720	254	I>V		No	ClinGen TOPMed

No associated diseases with Q9H063

1 regional properties for Q9H063

Type	Name	Position	InterPro Accession
domain	MAGE homology domain	413 - 611	IPR002190

Functions

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

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.

4 GO annotations of molecular function

Name	Definition
RNA polymerase III core binding	Binding to an RNA polymerase III core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of seventeen subunits.
RNA polymerase III type 1 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 1 promoter that controls transcription by RNA polymerase III. Type 1 promoters are found in 5S rRNA genes, downstream of the transcription start site within the sequence of the mature RNA, and require TFIIIA for recognition.
RNA polymerase III type 2 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 2 promoter that controls transcription by RNA polymerase III. Type 2 promoters consist of an A box and a B box downstream of the transcription start site within the sequence within the sequence of the mature RNA. Type 2 promoters are found in many tRNA genes as well as in other small RNAs.
RNA polymerase III type 3 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 3 promoter that controls transcription by RNA polymerase III (Pol III). A type 3 Pol III promoter is composed of elements upstream of the transcription start site, including a TATA box. The human U6 snRNA gene has a type 3 promoter. Type 3 Pol III promoters have not been observed in S. cerevisiae.

2 GO annotations of biological process

Name	Definition
negative regulation of transcription by RNA polymerase I	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase I.
negative regulation of transcription by RNA polymerase III	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase III.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5D9C6	MAF1	Repressor of RNA polymerase III transcription MAF1 homolog	Bos taurus (Bovine)	PR
Q5XIH0	Maf1	Repressor of RNA polymerase III transcription MAF1 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MKLLENSSFE	AINSQLTVET	GDAHIIGRIE	SYSCKMAGDD	KHMFKQFCQE	GQPHVLEALS
70	80	90	100	110	120
PPQTSGLSPS	RLSKSQGGEE	EGPLSDKCSR	KTLFYLIATL	NESFRPDYDF	STARSHEFSR
130	140	150	160	170	180
EPSLSWVVNA	VNCSLFSAVR	EDFKDLKPQL	WNAVDEEICL	AECDIYSYNP	DLDSDPFGED
190	200	210	220	230	240
GSLWSFNYFF	YNKRLKRIVF	FSCRSISGST	YTPSEAGNEL	DMELGEEEVE	EESRSGGSGA
250
EETSTMEEDR	VPVICI