AiPD: Autoinhibited Protein Database

Q96HT8

Gene name	MRFAP1L1 (PP784)
Protein name	MORF4 family-associated protein 1-like 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114932
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-127 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-127 (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 Q96HT8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96HT8-F1	Predicted				AlphaFoldDB

134 variants for Q96HT8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs377363482 CA2842007	2	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377363482 CA356193238	2	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778160804 CA2842008	2	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748594465 CA2842006	3	P>R		No	ClinGen ExAC gnomAD
CA356193231 rs1306506485	3	P>S		No	ClinGen gnomAD
rs1368046668 CA356193176	6	I>K		No	ClinGen TOPMed gnomAD
rs965602373 CA91858540	6	I>M		No	ClinGen TOPMed
CA356193174 rs1368046668	6	I>T		No	ClinGen TOPMed gnomAD
CA356193182 rs1227678573	6	I>V		No	ClinGen TOPMed
rs763252388 CA2842004	7	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2842005 rs779267313	7	D>H		No	ClinGen ExAC gnomAD
rs754118194 CA2842003	8	E>*		No	ClinGen ExAC gnomAD
rs1577326936 CA356193105	9	V>G		No	ClinGen Ensembl
CA2842001 rs756171478	9	V>L		No	ClinGen ExAC gnomAD
rs201956996 CA2842000	10	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs141793895 CA2841999	11	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	12	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774286090 CA2841997	13	E>K		No	ClinGen ExAC gnomAD
CA356193053 rs1180077030	14	E>K		No	ClinGen TOPMed
CA356193031 rs1577326919	15	V>G		No	ClinGen Ensembl
CA356193039 rs1254130813	15	V>M		No	ClinGen TOPMed
rs1577326915 CA356193008	17	V>G		No	ClinGen Ensembl
CA2841995 rs200557031	19	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549615660 CA91858499	20	P>S		No	ClinGen Ensembl
rs144839123 CA2841992	21	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2841993 rs376876657	21	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs894580093 CA91858492	22	E>G		No	ClinGen TOPMed
CA2841990 rs141796381	23	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1344767616 CA356192913	25	E>K		No	ClinGen gnomAD
CA2841988 rs779357244	26	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749474650 CA2841986	29	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2841985 rs780190745	29	L>H		No	ClinGen ExAC gnomAD
rs750534627 CA2841983	30	P>R		No	ClinGen ExAC gnomAD
rs148080183 CA356192825	33	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148080183 CA2841982	33	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356192821 rs1373426785	33	N>K		No	ClinGen gnomAD
rs374689243 CA91858436	33	N>S		No	ClinGen ESP
CA356192813 rs1172725618	34	E>D		No	ClinGen gnomAD
rs1236065764 CA356192806	35	M>I		No	ClinGen TOPMed
CA91858434 rs559729157	35	M>T		No	ClinGen 1000Genomes
rs757128265 CA2841981	35	M>V		No	ClinGen ExAC TOPMed gnomAD
rs751499970 CA2841980	37	E>*		No	ClinGen ExAC gnomAD
rs1040777231 CA91858426	40	A>V		No	ClinGen TOPMed
rs762756624 CA2841978	41	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2841974 rs764868069	43	I>M		No	ClinGen ExAC TOPMed gnomAD
rs752369449 CA2841975	43	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2841976 rs1553814977	43	I>V		No	ClinGen Ensembl
rs759076156 CA2841973	44	R>H		No	ClinGen ExAC gnomAD
rs1577326817 CA356192728	48	R>Q		No	ClinGen Ensembl
rs762370316 CA2841970	48	R>W		No	ClinGen ExAC
CA2841969 rs775021004	49	A>P		No	ClinGen ExAC
rs769122072 CA2841968	50	Y>H		No	ClinGen ExAC gnomAD
rs1316418138 CA356192707	52	R>W		No	ClinGen TOPMed gnomAD
rs148951084 CA2841966	53	T>N		No	ClinGen ExAC TOPMed gnomAD
rs148951084 CA356192700	53	T>S		No	ClinGen ExAC TOPMed gnomAD
rs746115689 CA2841965	54	R>G		No	ClinGen ExAC TOPMed gnomAD
CA356192697 rs1230486036	54	R>K		No	ClinGen gnomAD
CA2841963 rs371373321	55	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356192683 rs1312091366	56	K>Q		No	ClinGen gnomAD
CA356192681 rs1396382491	56	K>R		No	ClinGen gnomAD
rs757354801 CA2841962	57	L>P		No	ClinGen ExAC gnomAD
CA2841961 rs746895197	59	E>D		No	ClinGen ExAC gnomAD
CA2841959 rs758154590	60	M>I		No	ClinGen ExAC TOPMed gnomAD
rs777734005 CA2841960	60	M>L		No	ClinGen ExAC gnomAD
CA2841958 rs765095916	62	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2841957 rs765095916	62	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2841956 rs754524317	63	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2841955 rs201872173	64	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA356192600 rs1485797995	68	K>E		No	ClinGen gnomAD
CA356192588 rs1268897270	69	T>M		No	ClinGen gnomAD
CA2841951 rs764765342	70	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2841950 rs763361529	72	E>*		No	ClinGen ExAC gnomAD
rs1215779415 CA356192572	72	E>A		No	ClinGen TOPMed
rs1254034196 CA356192569 CA356192568	72	E>D		No	ClinGen TOPMed
rs368965122 CA91858268	73	A>S		No	ClinGen ESP TOPMed gnomAD
rs770199128 CA2841948	74	S>T		No	ClinGen ExAC gnomAD
rs1381629854 CA356192559	74	S>W		No	ClinGen gnomAD
CA2841947 rs746034774	76	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1027214259 CA91858230	77	S>T		No	ClinGen TOPMed gnomAD
rs776930474 CA2841946	78	A>V		No	ClinGen ExAC gnomAD
rs770973000 CA2841945	81	H>R		No	ClinGen ExAC
CA356192514 rs1462614468	81	H>Y		No	ClinGen TOPMed
CA356192507 rs1473551617	82	V>E		No	ClinGen TOPMed gnomAD
rs3172603 CA356192508 CA2841944	82	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	83	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356192496 rs3207110	84	H>D		No	ClinGen TOPMed gnomAD
rs3207110 CA91858198	84	H>N		No	ClinGen TOPMed gnomAD
rs563642910 CA2841942	84	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA356192495 rs3207110	84	H>Y		No	ClinGen TOPMed gnomAD
rs748125117 CA2841941	85	P>L		No	ClinGen ExAC TOPMed gnomAD
CA91858194 rs748125117	85	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1449431696 CA356192488	85	P>S		No	ClinGen gnomAD
CA356192483 rs374512352	86	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577326702 CA356192480	86	S>R		No	ClinGen Ensembl
rs374512352 CA2841939	86	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs3207076 CA91858136	88	E>D		No	ClinGen ExAC gnomAD
rs753411155 CA2841938	88	E>K		No	ClinGen ExAC gnomAD
rs1358710857 CA356192467	89	A>T		No	ClinGen gnomAD
CA91858127 rs3172601	90	D>A		No	ClinGen Ensembl
rs199642592 CA2841936	90	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2841934 rs767147401	91	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2841933 rs753277042	93	V>L		No	ClinGen ExAC gnomAD
CA2841932 rs753277042	93	V>M		No	ClinGen ExAC gnomAD
CA91858106 rs961433404	94	S>L		No	ClinGen Ensembl
rs1577326671 CA356192428	95	E>G		No	ClinGen Ensembl
COSM1430580 CA2841929 rs759990042	97	C>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2841928 rs776801563	98	E>K		No	ClinGen ExAC gnomAD
CA356192364 rs1234928246	104	A>T		No	ClinGen TOPMed
rs146762761 CA91858072	105	K>E		No	ClinGen ESP TOPMed gnomAD
rs760903231 CA2841926	105	K>M		No	ClinGen ExAC TOPMed gnomAD
CA356192355 rs760903231	105	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1191093317 CA356192348	106	E>G		No	ClinGen gnomAD
rs1453070421 CA356192337	108	A>T		No	ClinGen gnomAD
rs1246252563 CA356192332	108	A>V		No	ClinGen TOPMed gnomAD
CA356192331 rs1163284184	109	K>E		No	ClinGen TOPMed
CA2841925 rs773212917	109	K>R		No	ClinGen ExAC TOPMed gnomAD
rs748447734 CA2841924	110	M>T		No	ClinGen ExAC gnomAD
CA356192316 rs1248672816	111	A>T		No	ClinGen gnomAD
rs778960034 CA2841922	112	E>A		No	ClinGen ExAC gnomAD
CA356192295 rs1403216157	113	M>I		No	ClinGen TOPMed
rs749176071 CA2841921	114	L>V		No	ClinGen ExAC gnomAD
TCGA novel	116	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779841184 CA2841919	116	E>K		No	ClinGen ExAC gnomAD
rs1330535025 CA356192270	118	V>L		No	ClinGen TOPMed
rs750103058 CA2841917	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780808717 CA2841916	121	I>K		No	ClinGen ExAC gnomAD
rs1333677336 CA356192247	121	I>M		No	ClinGen gnomAD
CA91857999 rs908386991	123	R>K		No	ClinGen gnomAD
rs1371587216 CA356192226	124	S>R		No	ClinGen TOPMed gnomAD
rs753118822 CA2841914	125	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1233841501 CA356192217	126	S>A		No	ClinGen TOPMed
rs759812467 CA2841912	127	S>F		No	ClinGen ExAC gnomAD
rs578236701 CA2841913	127	S>T		No	ClinGen 1000Genomes ExAC
CA2841911 rs754147066	128	S>R		No	ClinGen ExAC gnomAD

No associated diseases with Q96HT8

No regional properties for Q96HT8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96HT8

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3ZC61	MRFAP1	MORF4 family-associated protein 1	Bos taurus (Bovine)	PR
Q9Y605	MRFAP1	MORF4 family-associated protein 1	Homo sapiens (Human)	PR
Q9CQL7	Mrfap1	MORF4 family-associated protein 1	Mus musculus (Mouse)	PR
Q5M820	Mrfap1	MORF4 family-associated protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRPLDIDEVE	APEEVEVLEP	EEDFEQFLLP	VINEMREDIA	SLIREHGRAY	LRTRSKLWEM
70	80	90	100	110	120
DNMLIQIKTQ	VEASEESALN	HVQHPSGEAD	ERVSELCEKA	EEKAKEIAKM	AEMLVELVWR

IERSESS