AiPD: Autoinhibited Protein Database

Q147U7

Gene name	SMCO1 (C3orf43)
Protein name	Single-pass membrane and coiled-coil domain-containing protein 1
Names	Single-pass membrane protein with coiled-coil domains 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:255798
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-86 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-86 (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 Q147U7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q147U7-F1	Predicted				AlphaFoldDB

168 variants for Q147U7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2781255 rs377153433	5	T>N		No	ClinGen ESP ExAC gnomAD
rs762519916 CA2781254	6	T>I		No	ClinGen ExAC gnomAD
COSM1242071 rs201500241 CA90821764	7	T>I	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	8	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765135565 CA2781252	9	I>K		No	ClinGen ExAC gnomAD
rs1156398080 CA355606799	10	S>Y		No	ClinGen TOPMed
rs1414836182 CA355606760	13	E>Q		No	ClinGen TOPMed
CA2781250 rs776442663	16	K>E		No	ClinGen ExAC gnomAD
rs1413855719 CA355606705	17	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs533886995 CA2781211	19	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2781210 rs9869292 VAR_050721	20	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1400401089 CA355631574	21	K>I		No	ClinGen gnomAD
CA355631576 rs1400401089	21	K>R		No	ClinGen gnomAD
rs1406031448 CA355631568	22	L>F		No	ClinGen gnomAD
CA2781207 rs1553865025	23	Q>L		No	ClinGen Ensembl
rs1553865025 CA355631546	23	Q>R		No	ClinGen Ensembl
rs143475959 CA2781206	24	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2781204 rs755913831	26	E>A		No	ClinGen ExAC TOPMed gnomAD
rs919791629 CA90879309	26	E>Q		No	ClinGen TOPMed
CA355631490 rs1243405628	27	T>I		No	ClinGen gnomAD
CA355631483 rs1215855662	28	Q>R		No	ClinGen gnomAD
rs1206839699 CA355631453	30	K>R		No	ClinGen TOPMed gnomAD
CA90879282 rs959504296	33	D>G		No	ClinGen TOPMed gnomAD
rs759849329 CA2781201	33	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355631407 rs1232823474	34	F>L		No	ClinGen gnomAD
rs367798814 CA2781197	35	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs766629351 CA2781199	35	T>S		No	ClinGen ExAC gnomAD
rs367798814 CA2781198	35	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355631378 rs1484641437	38	N>I		No	ClinGen TOPMed
rs1256555515 CA355631372	39	L>P		No	ClinGen TOPMed
CA2781196 rs770301599	40	M>L		No	ClinGen ExAC gnomAD
TCGA novel	42	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2781194 rs79673145	44	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79673145 COSM730526 CA2781195	44	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs768952941 CA2781193	45	H>P		No	ClinGen ExAC gnomAD
CA355631325 rs1223880476	46	H>N		No	ClinGen gnomAD
rs1577532892 CA355631304	48	K>R		No	ClinGen Ensembl
CA2781190 rs745524127	49	A>D		No	ClinGen ExAC
rs745524127 CA2781192	49	A>V		No	ClinGen ExAC
rs1033687776 CA90879235	50	L>M		No	ClinGen Ensembl
CA355631279 rs1395384293	52	S>R		No	ClinGen gnomAD
CA90879234 rs974739291	54	A>T		No	ClinGen TOPMed
rs963927847 CA90879203	55	A>D		No	ClinGen TOPMed
CA355631245 rs1320459031	57	D>E		No	ClinGen TOPMed
CA2781187 rs748813685	57	D>G		No	ClinGen ExAC gnomAD
CA355631220 rs1240018514	60	W>C		No	ClinGen gnomAD
rs1474769322 CA355631226	60	W>R		No	ClinGen gnomAD
CA2781186 rs777613858	61	T>I		No	ClinGen ExAC TOPMed gnomAD
rs987006207 CA90879142	62	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs199641376 CA2781184	64	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199641376 CA2781183	64	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_050722 rs11926701 CA2781185	64	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1236350156 CA355631195	65	A>V		No	ClinGen TOPMed
CA2781182 rs754811085	66	L>P		No	ClinGen ExAC gnomAD
CA355631152 rs1397994196	70	S>*		No	ClinGen gnomAD
rs1416744824 CA355631146 COSM370119	71	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2781163 rs73891273	71	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440305601 CA355631150	71	M>V		No	ClinGen TOPMed
CA2781162 rs754868215	73	L>S		No	ClinGen ExAC gnomAD
rs1421255519 CA355631111	76	L>S		No	ClinGen TOPMed gnomAD
CA2781161 rs751368682	77	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs779953451 CA2781160	78	S>I		No	ClinGen ExAC TOPMed gnomAD
CA2781158 rs560795170	80	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2781157 rs765365651	81	I>T		No	ClinGen ExAC gnomAD
CA355631066 rs1172334284	83	V>I		No	ClinGen TOPMed
rs761795274 CA2781156	84	L>F		No	ClinGen ExAC TOPMed gnomAD
rs754427658 CA2781155	85	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1241534765 CA355631047	86	C>G		No	ClinGen gnomAD
rs912561659 CA90877528	88	H>R		No	ClinGen TOPMed gnomAD
rs1307498551 CA355631022	89	T>I		No	ClinGen gnomAD
rs374608743 CA2781154	90	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761072658 COSM1308987 CA2781153	90	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355631013 rs1327776599	91	V>A		No	ClinGen gnomAD
rs1317924528 CA355631005	93	E>K		No	ClinGen gnomAD
rs775866277 CA2781151	97	D>E		No	ClinGen ExAC gnomAD
rs930226852 CA90877511	97	D>H		No	ClinGen Ensembl
rs118152136 CA2781149	99	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2781150 rs772381628	99	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2781147 rs769400763	100	R>G		No	ClinGen ExAC gnomAD
rs747586187 CA2781146	103	P>L		No	ClinGen ExAC gnomAD
rs962795735 CA90877488	104	T>N		No	ClinGen Ensembl
CA355630932 rs1397448382	105	L>S		No	ClinGen TOPMed gnomAD
rs1194738743 CA355630924	106	A>V		No	ClinGen gnomAD
rs1251286074 CA355630917	107	S>F		No	ClinGen gnomAD
rs1577531349 CA355630903	110	R>G		No	ClinGen Ensembl
CA2781144 rs376080303	111	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1021466677 CA90877450	112	K>N		No	ClinGen TOPMed
CA2781143 rs768745701	113	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746892101 CA2781142	114	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1053811487 CA355630868	115	N>S		No	ClinGen TOPMed gnomAD
CA90877412 rs1053811487	115	N>T		No	ClinGen TOPMed gnomAD
CA2781139 rs373120792	117	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2781138 rs568178802	117	R>H	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355630854 rs568178802	117	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764120946 CA2781135	118	V>A		No	ClinGen ExAC TOPMed gnomAD
rs753888428 COSM1246827 CA2781136	118	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs537869216 CA2781132	120	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537869216 CA2781133	120	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA90877304 rs1000008254	121	V>L		No	ClinGen Ensembl
rs377183776 CA90877285	122	W>S		No	ClinGen ESP
rs903940214 CA90877272	125	I>L		No	ClinGen TOPMed gnomAD
CA2781130 rs772963172	125	I>M		No	ClinGen ExAC gnomAD
CA2781131 rs759802309	125	I>T		No	ClinGen ExAC TOPMed gnomAD
rs903940214 CA355630810	125	I>V		No	ClinGen TOPMed gnomAD
rs559733550 CA2781127	128	E>A		No	ClinGen 1000Genomes
rs1328021806 CA355630776	130	G>R		No	ClinGen TOPMed
rs761486168 CA90877242	131	L>M		No	ClinGen ExAC gnomAD
TCGA novel	133	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2781124 rs768222921	133	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	135	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746949185 CA2781122	136	I>F		No	ClinGen ExAC gnomAD
CA355630736 rs1347101934	136	I>T		No	ClinGen gnomAD
CA90877186 rs1051084110	140	C>S		No	ClinGen Ensembl
rs1481479206 CA355630704	141	T>N		No	ClinGen gnomAD
rs771960992 CA2781120	143	F>L		No	ClinGen ExAC gnomAD
TCGA novel	145	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355630675 rs1397817635	145	A>V		No	ClinGen gnomAD
CA2781118 rs779239141	146	R>C	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1313909564 CA355630672	146	R>H		No	ClinGen gnomAD
rs757453994 CA2781117	147	G>D		No	ClinGen ExAC gnomAD
CA355630668 rs1577531140	147	G>R		No	ClinGen Ensembl
CA90877142 rs916971322	149	K>E		No	ClinGen TOPMed
CA2781116 rs749466976	152	H>R		No	ClinGen ExAC gnomAD
CA355630633 rs1400716972	152	H>Y		No	ClinGen gnomAD
rs369710194 CA2781112	156	K>E		No	ClinGen ESP ExAC gnomAD
rs1038947502 CA355630606	156	K>R		No	ClinGen TOPMed gnomAD
rs1038947502 CA90877109	156	K>T		No	ClinGen TOPMed gnomAD
CA90877098 rs745316185	157	V>A		No	ClinGen Ensembl
CA2781110 rs751898835	159	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs532086740 CA90877073	160	M>T		No	ClinGen TOPMed gnomAD
CA355630569 rs1263345399	161	Y>*		No	ClinGen gnomAD
rs184546435 CA2781109	162	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1215158501 CA355630550	164	D>G		No	ClinGen gnomAD
rs761570833 CA2781108	166	T>M		No	ClinGen ExAC TOPMed gnomAD
rs761570833 CA355630147	166	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	169	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776355536 CA2781107	172	M>T		No	ClinGen ExAC gnomAD
CA355630077 rs1451600723	172	M>V		No	ClinGen gnomAD
rs927456808 CA90877026	175	N>H		No	ClinGen Ensembl
TCGA novel	176	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392536740 CA355630006	177	A>D		No	ClinGen gnomAD
rs374565107 CA2781106	177	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	177	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2781105 rs192469355	179	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs964921644 CA90877007	179	Q>R		No	ClinGen TOPMed
rs1418865713 CA355629932	183	L>R		No	ClinGen gnomAD
CA355629924 rs1264254721	184	R>K		No	ClinGen TOPMed
rs774339055 CA90876976	185	A>V		No	ClinGen TOPMed gnomAD
CA2781104 rs116717850	186	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355629899 rs1371416437	187	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771876680 CA2781103	188	V>A		No	ClinGen ExAC gnomAD
CA355629889 rs1235585129	188	V>I		No	ClinGen gnomAD
CA355629871 rs371825571	189	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2781101 rs371825571	189	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184529986 CA355629848	191	K>Q		No	ClinGen TOPMed
rs1577530873 CA355629827	192	G>R		No	ClinGen Ensembl
rs1273426832 CA355629804	194	A>T		No	ClinGen gnomAD
CA2781099 rs370580225	194	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777955000 CA2781097	197	T>A		No	ClinGen ExAC gnomAD
rs769907990 CA2781096	197	T>N		No	ClinGen ExAC gnomAD
rs367904648 CA2781095	198	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs62410569 COSM1670809 CA90876909	206	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1163995688 CA355629633	207	E>G		No	ClinGen TOPMed
rs187809363 CA2781091	209	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2781090 rs780285836	210	P>L		No	ClinGen ExAC gnomAD
CA355629562 rs1470359793	213	K>R		No	ClinGen gnomAD
CA355629546 rs1379625314	214	N>I		No	ClinGen gnomAD
rs1427577811 CA355629542	214	N>K		No	ClinGen TOPMed

No associated diseases with Q147U7

No regional properties for Q147U7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q147U7

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-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

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MNNETTTLIS	LKEAMKRVDH	KLQALETQFK	ELDFTKDNLM	QKFEHHSKAL	ASQAAQDEMW
70	80	90	100	110	120
TAVRALQLTS	MELNILYSYV	IEVLICLHTR	VLEKLPDLVR	GLPTLASVLR	RKVKNKRVRV
130	140	150	160	170	180
VWESILEECG	LQEGDITALC	TFFIARGNKA	EHYTAKVRQM	YIRDVTFLIT	NMVKNQALQD
190	200	210
SLLRAVQVIE	KGKAVRTPEK	QKSSLEELIP	SVKN