AiPD: Autoinhibited Protein Database

Q8IZR5

Gene name	CMTM4
Protein name	CKLF-like MARVEL transmembrane domain-containing protein 4
Names	Chemokine-like factor superfamily member 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:146223
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-64 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-64 (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 Q8IZR5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZR5-F1	Predicted				AlphaFoldDB

154 variants for Q8IZR5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA282221723 rs941547823	4	G>D		No	ClinGen TOPMed
rs1370706689 CA396201116	5	E>V		No	ClinGen TOPMed
CA396201112 rs1431082313	6	E>Q		No	ClinGen TOPMed
rs910032288 CA282221716	9	G>S		No	ClinGen TOPMed gnomAD
rs1403971101 CA396201077	11	E>*		No	ClinGen gnomAD
rs1396415076 CA396201050	15	S>P		No	ClinGen TOPMed
TCGA novel	19	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396201012 rs1596973162	20	I>T		No	ClinGen Ensembl
rs1399910223 CA396200986	24	S>N		No	ClinGen TOPMed gnomAD
CA396200987 rs1399910223	24	S>T		No	ClinGen TOPMed gnomAD
rs1360935886 CA396200935	32	E>K		No	ClinGen TOPMed gnomAD
CA396200934 rs1360935886	32	E>Q		No	ClinGen TOPMed gnomAD
CA396200924 rs1467085660	33	P>L		No	ClinGen TOPMed gnomAD
rs1017393294 CA282221655	33	P>S		No	ClinGen TOPMed gnomAD
rs1390371887 CA396200914	35	S>G		No	ClinGen TOPMed
rs1427295490 CA396200913	35	S>N		No	ClinGen gnomAD
CA396200877 rs1180155192	41	A>T		No	ClinGen gnomAD
rs1450829031 CA396200870	42	G>R		No	ClinGen TOPMed
CA396200863 rs1413015866	43	L>R		No	ClinGen TOPMed gnomAD
CA396200853 rs1466429145	45	C>R		No	ClinGen TOPMed
rs1239116872 CA396200836	47	P>R		No	ClinGen gnomAD
rs957210099 CA282221612	47	P>S		No	ClinGen TOPMed gnomAD
CA396200815 rs1182943837	50	L>Q		No	ClinGen TOPMed gnomAD
rs757442738 CA8095012	52	G>C		No	ClinGen ExAC gnomAD
rs1367574290 CA396200794	52	G>D		No	ClinGen TOPMed
CA396200778 rs1218111908	54	L>I		No	ClinGen gnomAD
rs1276232184 CA396200764	55	G>D		No	ClinGen gnomAD
rs1206320784 CA396200767	55	G>R		No	ClinGen gnomAD
rs1375920955 CA396200755	56	R>H		No	ClinGen gnomAD
CA396200756 rs1236377654	56	R>S		No	ClinGen TOPMed gnomAD
rs998691716 CA282221582	60	A>V		No	ClinGen TOPMed gnomAD
rs1487804739 CA396200703	61	Q>E		No	ClinGen Ensembl
CA396192106 rs1375260911	65	A>T		No	ClinGen TOPMed
CA8094991 rs748624909	67	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1396513952 CA396192064	68	A>T		No	ClinGen TOPMed gnomAD
rs763718300 CA282206055	70	I>V		No	ClinGen Ensembl
CA396192017 rs1238717813	71	C>S		No	ClinGen TOPMed gnomAD
CA396192007 rs139191138	72	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1487796630 CA396192004	72	I>T		No	ClinGen gnomAD
rs139191138 CA8094990	72	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs931931387 CA282206049	74	T>I		No	ClinGen Ensembl
rs1183161538 CA396191957	76	M>V		No	ClinGen TOPMed
CA396191925 rs1567410074	78	C>Y		No	ClinGen Ensembl
rs1288830559 CA396191907	79	S>C		No	ClinGen gnomAD
CA8094988 rs754303799	80	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396191864 rs1268546730	83	G>D		No	ClinGen TOPMed gnomAD
CA396191860 rs1268546730	83	G>V		No	ClinGen TOPMed gnomAD
CA282206039 rs900407048	84	L>F		No	ClinGen gnomAD
rs908420071 CA282206035	85	Y>H		No	ClinGen TOPMed
rs1456781350 CA396191816	86	F>L		No	ClinGen TOPMed gnomAD
CA8094986 rs755788251	93	S>G		No	ClinGen ExAC gnomAD
CA8094985 rs750021910	94	A>V		No	ClinGen ExAC gnomAD
rs761333019 CA8094983	97	V>L		No	ClinGen ExAC gnomAD
CA8094981 rs141261641	100	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8094980 rs762869246	106	S>T		No	ClinGen ExAC gnomAD
CA282206017 rs1028725220	111	M>L		No	ClinGen TOPMed
CA8094978 rs769515027	113	I>L		No	ClinGen ExAC gnomAD
CA8094977 rs747210466	114	P>R		No	ClinGen ExAC gnomAD
CA396191350 rs1292416121	115	Q>E		No	ClinGen TOPMed
rs1489680686 CA396191344	115	Q>H		No	ClinGen gnomAD
CA8094976 rs538611925	116	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1356392937 CA396191321	117	N>S		No	ClinGen TOPMed
CA8094975 rs772076894	119	N>D		No	ClinGen ExAC
CA396189284 rs1302219218	124	V>D		No	ClinGen gnomAD
rs965147153 CA282201516	124	V>I		No	ClinGen Ensembl
rs1277487939 CA396189269	126	T>S		No	ClinGen TOPMed
rs764170070 CA282201503	130	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396189237 rs1245282983	131	F>S		No	ClinGen gnomAD
rs746281125 CA8094951	136	A>V		No	ClinGen ExAC gnomAD
CA396189196 rs1361423102	137	S>T		No	ClinGen TOPMed gnomAD
rs182547513 CA8094950	138	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8094948 rs371978411	139	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371978411 CA8094947	139	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757855939 CA8094946	142	A>G		No	ClinGen ExAC gnomAD
CA282201494 rs887041831	145	H>R		No	ClinGen TOPMed
CA396189091 rs1239902794	146	R>G		No	ClinGen gnomAD
rs1256623305 CA396189058	148	G>E		No	ClinGen gnomAD
rs138530024 CA8094943	148	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8094942 rs753722715	149	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1315290698 CA396189035	150	E>V		No	ClinGen gnomAD
TCGA novel	151	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8094940 rs374543889	154	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368980298 CA396188893	155	I>V		No	ClinGen gnomAD
rs1167049575 CA396188868	156	F>L		No	ClinGen gnomAD
CA396188853 rs1567403134	158	F>L		No	ClinGen Ensembl
CA396188816 rs1476868387	160	A>G		No	ClinGen gnomAD
rs764448537 CA8094921	162	A>V		No	ClinGen ExAC gnomAD
CA396188777 rs1186473585	163	A>V		No	ClinGen TOPMed
CA396188755 rs1357724920	165	A>S		No	ClinGen gnomAD
rs529924064 CA8094918	166	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA396188738 rs1225814017	167	N>D		No	ClinGen gnomAD
rs760106469 CA8094917	169	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA396188668 rs1567403089	172	V>A		No	ClinGen Ensembl
CA396188673 rs1276946243	172	V>L		No	ClinGen gnomAD
rs370418115 CA8094916	178	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs35412701 CA8094914	179	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8094915 rs35412701	179	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8094910 rs774180347	180	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774180347 CA282200986	180	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778488127 CA8094909	180	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8094911 rs774180347	180	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8094906 rs779811765	182	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs749269976 CA8094907	182	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs572501993 CA8094904	183	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	185	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8094902 rs200868392	185	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767404833 CA8094901	187	Y>H		No	ClinGen ExAC gnomAD
CA396188459 rs1452574520	188	I>T		No	ClinGen TOPMed gnomAD
CA396188470 rs1271950835	188	I>V		No	ClinGen TOPMed gnomAD
COSM84347 rs142320554 CA8094900	189	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	189	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396188440 rs1197310431	190	A>D		No	ClinGen TOPMed gnomAD
CA396188439 rs1197310431	190	A>G		No	ClinGen TOPMed gnomAD
rs374010185 CA8094899	191	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA282200951 rs765384276	192	T>K		No	ClinGen ExAC TOPMed gnomAD
rs765384276 CA8094898	192	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1341084816 CA396188419	193	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1272690277 CA396188405	194	S>P		No	ClinGen gnomAD
rs1331500180 CA396188382	195	R>S		No	ClinGen gnomAD
CA8094897 rs759496057	195	R>T		No	ClinGen ExAC gnomAD
CA8094896 rs776741887	197	V>L		No	ClinGen ExAC gnomAD
rs776741887 CA396188361	197	V>M		No	ClinGen ExAC gnomAD
CA8094895 rs138396334	200	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8094894 rs761158595	200	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1398751765 CA396188304	201	P>L		No	ClinGen TOPMed
COSM972195 CA8094893 rs773632428	205	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8094892 rs772354497	205	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773632428 CA396188250	205	R>S		No	ClinGen ExAC gnomAD
CA396188234 rs1458791918	206	L>P		No	ClinGen TOPMed
rs775135329 CA282200938	207	D>H		No	ClinGen Ensembl
CA8094890 rs773825686	208	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767891322 CA8094872	211	Y>C		No	ClinGen ExAC gnomAD
rs1283739751 CA396205446	212	S>C		No	ClinGen gnomAD
CA8094871 rs762042681	213	T>I		No	ClinGen ExAC gnomAD
rs1335946641 CA396205427	215	V>A		No	ClinGen TOPMed
CA8094868 rs374620860	215	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8094869 rs374620860	215	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361575783 CA396205424	216	T>A		No	ClinGen gnomAD
rs189643240 CA8094866	216	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1567400292 CA622895921	217	V>*		No	ClinGen Ensembl
rs1404167951 CA396205412	218	R>K		No	ClinGen gnomAD
rs1198722686 CA396205391	221	S>P		No	ClinGen gnomAD
rs964613355 CA282204255	222	P>L		No	ClinGen TOPMed gnomAD
rs914380889 CA282204233	224	N>S		No	ClinGen TOPMed
CA282204245 rs996780264	224	N>Y		No	ClinGen Ensembl
CA396205355 rs1191071180	227	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201212372 CA8094862	230	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA396205327 rs1263708877	231	W>R		No	ClinGen gnomAD
rs537288410 CA8094860	232	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396205314 rs1282637597	232	Q>P		No	ClinGen TOPMed
CA282204208 rs150421604	233	L>F		No	ClinGen ESP TOPMed
rs777612353 CA8094858	233	L>P		No	ClinGen ExAC TOPMed gnomAD
CA282204203 rs990110719	234	A>T		No	ClinGen TOPMed

No associated diseases with Q8IZR5

1 regional properties for Q8IZR5

Type	Name	Position	InterPro Accession
domain	Marvel domain	49 - 176	IPR008253

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DAC0	Cmtm2b	CKLF-like MARVEL transmembrane domain-containing protein 2B	Mus musculus (Mouse)	PR
Q9ESD6	Cmtm7	CKLF-like MARVEL transmembrane domain-containing protein 7	Mus musculus (Mouse)	PR
Q8CJ61	Cmtm4	CKLF-like MARVEL transmembrane domain-containing protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MRSGEELDGF	EGEASSTSMI	SGASSPYQPT	TEPVSQRRGL	AGLRCDPDYL	RGALGRLKVA
70	80	90	100	110	120
QVILALIAFI	CIETIMACSP	CEGLYFFEFV	SCSAFVVTGV	LLIMFSLNLH	MRIPQINWNL
130	140	150	160	170	180
TDLVNTGLSA	FLFFIASIVL	AALNHRAGAE	IAAVIFGFLA	TAAYAVNTFL	AVQKWRVSVR
190	200	210	220	230
QQSTNDYIRA	RTESRDVDSR	PEIQRLDTFS	YSTNVTVRKK	SPTNLLSLNH	WQLA