AiPD: Autoinhibited Protein Database

Q9BWL3

Gene name	C1orf43 (NICE3, NS5ATP4)
Protein name	Protein C1orf43
Names	Hepatitis C virus NS5A-transactivated protein 4, HCV NS5A-transactivated protein 4, Protein NICE-3, S863-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25912
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

168-252 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

168-252 (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 Q9BWL3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BWL3-F1	Predicted				AlphaFoldDB

193 variants for Q9BWL3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1252232934 CA342594569	2	A>V		No	ClinGen TOPMed gnomAD
CA342594560 rs1558093769	4	G>S		No	ClinGen Ensembl
rs1199057855 CA342594555	5	S>G		No	ClinGen TOPMed gnomAD
CA342594542 rs1270584250	6	N>K		No	ClinGen TOPMed gnomAD
CA1126296 rs765392017	6	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1126295 rs761891258	8	L>P		No	ClinGen ExAC gnomAD
rs1558093593 CA342594523	9	S>C		No	ClinGen Ensembl
CA30776365 rs906664009	12	N>D		No	ClinGen TOPMed
CA342594496 rs1370937765	14	V>L		No	ClinGen gnomAD
rs1310584120 CA342594481	16	V>A		No	ClinGen gnomAD
CA342594446 rs147570400	21	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1126290 rs147570400	21	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA342594424 rs1558091186	23	V>M		No	ClinGen Ensembl
CA30776001 rs1023864421	25	V>L		No	ClinGen TOPMed
CA342594350 rs1453088371	34	Q>E		No	ClinGen TOPMed
rs1298292626 CA342594330	36	M>I		No	ClinGen gnomAD
CA1126244 rs540868389	39	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377453150 CA30775995	43	R>*		No	ClinGen ExAC gnomAD
rs1405864057 CA342594284	43	R>Q		No	ClinGen gnomAD
rs780104619 CA1126240	46	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369133345 CA1126241	46	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1126237 rs757270805	47	H>L		No	ClinGen ExAC
CA1126239 rs757270805	47	H>R		No	ClinGen ExAC
CA342594264 rs1195960283	47	H>Y		No	ClinGen gnomAD
CA342594256 rs1241559197	48	V>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1126236 rs753893215	48	V>I		No	ClinGen ExAC gnomAD
CA342594246 rs1223007830	50	V>L		No	ClinGen gnomAD
CA1126232 rs752987676	52	H>D		No	ClinGen ExAC TOPMed gnomAD
CA1126233 rs752987676	52	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA30775894 rs1040861191	53	N>D		No	ClinGen TOPMed
CA342594229 rs1040861191	53	N>H		No	ClinGen TOPMed
CA1126231 rs767965672	53	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1278391094 CA342594222	54	A>P		No	ClinGen gnomAD
rs943798361 CA342594216	55	P>A		No	ClinGen gnomAD
rs943798361 CA30775862	55	P>S		No	ClinGen gnomAD
CA1126230 rs760047873	56	K>R		No	ClinGen ExAC gnomAD
TCGA novel	60	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440836598 CA342593548	62	I>F		No	ClinGen gnomAD
CA1126210 rs370941499	62	I>M		No	ClinGen ESP ExAC gnomAD
CA342593528 rs1479463995	63	D>V		No	ClinGen gnomAD
CA342593535 rs1175784056	63	D>Y		No	ClinGen gnomAD
CA1126209 rs148001096	64	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1126208 COSM3801992 COSM3801991 rs766685758	65	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1126207 rs577642353	65	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342593505 rs577642353	65	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1277539806 CA342593499	66	L>F		No	ClinGen gnomAD
CA1126206 rs750943198	67	S>F		No	ClinGen ExAC gnomAD
rs1354320054 CA342593464	69	V>I		No	ClinGen gnomAD
rs920724890 CA30772324	70	Q>H		No	ClinGen Ensembl
rs929491903 CA30772326	70	Q>L		No	ClinGen TOPMed gnomAD
rs1308885429 CA342593427	72	I>L		No	ClinGen TOPMed gnomAD
rs1308885429 CA342593425	72	I>V		No	ClinGen TOPMed gnomAD
rs764694541 CA1126205	74	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1389401424 CA342593396	74	Y>D		No	ClinGen gnomAD
CA1126204 rs761379099	75	E>K		No	ClinGen ExAC
rs1416833612 CA342593345 CA342593347	77	Q>H		No	ClinGen TOPMed gnomAD
CA342593351 rs1303684086	77	Q>R		No	ClinGen gnomAD
rs768239212 CA1126202	81	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1126201 rs760244619	82	D>G		No	ClinGen ExAC gnomAD
rs1366003485 CA342593281	83	D>Y		No	ClinGen gnomAD
CA1126200 rs775312577	87	L>V		No	ClinGen ExAC gnomAD
CA342593228 rs1257257879	88	Q>E		No	ClinGen gnomAD
CA30772275 rs764127878	88	Q>R		No	ClinGen TOPMed gnomAD
rs377260078 CA1126198	92	Q>P		No	ClinGen ESP ExAC gnomAD
CA30772265 rs377260078	92	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	95	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769984201 CA342593144	95	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	95	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1126196 rs769984201	95	Q>K		No	ClinGen ExAC gnomAD
rs1316172678 CA342593128	96	S>R		No	ClinGen gnomAD
CA1126173 rs747226011	97	C>G		No	ClinGen ExAC gnomAD
CA1126170 rs543471590	99	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780205991 CA1126172	99	N>T		No	ClinGen ExAC gnomAD
rs779254048 CA1126169	100	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs926760130 CA30771951	102	Y>C		No	ClinGen gnomAD
CA1126166 rs368762200	102	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571481796 CA342592683	104	M>I		No	ClinGen Ensembl
TCGA novel	106	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	108	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755617410 CA1126165	109	A>T		No	ClinGen ExAC gnomAD
CA342592621 rs1256494405	110	I>T		No	ClinGen TOPMed
CA30771943 rs1004968442	111	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1126164 rs752383833	111	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767021578 CA1126163	112	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1439316218 CA342592588	113	S>C		No	ClinGen gnomAD
CA1126162 rs759266570	113	S>P		No	ClinGen ExAC gnomAD
CA342592455 rs1486119272	114	E>G		No	ClinGen TOPMed gnomAD
CA342592443 rs1234011191	115	I>V		No	ClinGen TOPMed
rs1208747965 CA342592396	118	H>R		No	ClinGen TOPMed gnomAD
CA1126134 rs775388750	121	G>D		No	ClinGen ExAC gnomAD
rs946812541 CA30771284	122	R>Q		No	ClinGen TOPMed gnomAD
CA1126132 rs759731768	122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1279319938 CA342592324 COSM1472686 COSM423976	124	P>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1126131 rs537167939	125	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs149819448 CA1126130	125	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs749597940 CA1126129	128	M>I		No	ClinGen ExAC gnomAD
rs1558080894 CA342592294	128	M>T		No	ClinGen Ensembl
rs1318939204 CA342592265	132	F>C		No	ClinGen gnomAD
rs778205904 CA342592262	132	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770161723 COSM117115 CA1126127	133	R>C	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780549431 CA1126125	133	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1126126 rs780549431	133	R>L		No	ClinGen ExAC TOPMed gnomAD
rs575991961 CA342592257	134	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs575991961 CA1126124	134	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs146574729 CA1126123	135	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1126120 rs750114569	138	D>E		No	ClinGen ExAC TOPMed gnomAD
rs114974392 CA1126121	138	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1445765778 CA342592223	140	R>*		No	ClinGen TOPMed gnomAD
rs988177331 CA30771244	140	R>Q		No	ClinGen TOPMed gnomAD
CA1126119 rs144345546	142	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	143	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294701267 CA342592202	143	S>I		No	ClinGen gnomAD
rs1294701267 CA342592204	143	S>N		No	ClinGen gnomAD
CA1126118 rs761607078	143	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1126116 rs763460932	144	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM1242057 CA1126117 COSM1242058 rs763460932	144	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342592189 rs1432816295	146	F>L		No	ClinGen gnomAD
rs759676897 CA1126115	147	K>E		No	ClinGen ExAC gnomAD
CA1126114 rs144385115	150	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771075228 CA1126113	150	R>H		No	ClinGen ExAC gnomAD
rs771075228 CA342592160	150	R>L		No	ClinGen ExAC gnomAD
TCGA novel	152	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1126111 rs773400484	154	I>T		No	ClinGen ExAC gnomAD
rs1188283947 CA342592138	154	I>V		No	ClinGen gnomAD
CA1126108 rs764986749	155	D>G		No	ClinGen ExAC TOPMed gnomAD
rs748575878 CA1126109	155	D>N		No	ClinGen ExAC
TCGA novel	156	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1126107 rs768270379	156	T>I		No	ClinGen ExAC TOPMed gnomAD
CA342592124 rs768270379	156	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779712469 CA1126105	158	L>S		No	ClinGen ExAC gnomAD
CA342592110 rs1320671939	159	D>N		No	ClinGen TOPMed gnomAD
COSM324876 rs776392549 CA1126103	161	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1215766960 CA342592081	163	T>A		No	ClinGen gnomAD
rs778550771 CA1126102	163	T>R		No	ClinGen ExAC gnomAD
TCGA novel	164	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1126101 rs757114970	165	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1126099 rs764075230	166	Y>C		No	ClinGen ExAC gnomAD
CA1126100 rs764075230	166	Y>F		No	ClinGen ExAC gnomAD
CA1126097 rs751600738	169	G>E		No	ClinGen ExAC TOPMed gnomAD
rs755998249 CA1126080	171	F>S		No	ClinGen ExAC gnomAD
CA342592015 rs1347032613	172	G>S		No	ClinGen TOPMed
TCGA novel	172	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342592004 rs752680591	173	Q>H		No	ClinGen ExAC gnomAD
rs1481864054 CA342592010	173	Q>K		No	ClinGen gnomAD
CA342592006 rs1250434723	173	Q>R		No	ClinGen gnomAD
CA1126078 rs145772909	178	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1232404520 CA342591971	178	R>H		No	ClinGen TOPMed gnomAD
CA30771092 rs904418282	179	Y>C		No	ClinGen TOPMed
rs750600317 CA1126076	179	Y>H		No	ClinGen ExAC gnomAD
CA342591841 rs1222349229	181	E>K		No	ClinGen gnomAD
rs750473329	183	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA30771082 rs1030110682	183	L>P		No	ClinGen Ensembl
rs994179284 CA30771080	184	S>R		No	ClinGen Ensembl
CA1126073 rs761942646	186	L>V		No	ClinGen ExAC gnomAD
rs1218263201 CA342591770	188	T>I		No	ClinGen TOPMed
rs1218263201 CA342591772	188	T>S		No	ClinGen TOPMed
rs564052742 CA1126070	189	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs914003770 CA30771068	189	A>T		No	ClinGen TOPMed gnomAD
rs1340523067 CA342591048	190	V>A		No	ClinGen gnomAD
rs1228188690 CA342591050	190	V>F		No	ClinGen gnomAD
CA1126046 rs757326273	191	K>P		No	ClinGen ExAC
CA30767765 COSM896528 rs963654381 COSM1583464	193	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA342591030 rs1016886052	193	R>L		No	ClinGen TOPMed gnomAD
COSM1295135 COSM1295136 CA30767755 rs1016886052	193	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs762563225 CA1126045	194	I>F		No	ClinGen ExAC gnomAD
CA1126044 rs772918920	195	G>V		No	ClinGen ExAC gnomAD
rs890788530 CA30767742	199	R>*		No	ClinGen TOPMed
CA30767740 rs980968543	199	R>Q		No	ClinGen TOPMed
CA342590958 rs1162162393	204	A>V		No	ClinGen gnomAD
TCGA novel	206	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342590936 rs1165604986	207	D>E		No	ClinGen TOPMed
rs780856257 CA1126038	210	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs747883582 CA1126039	210	Q>R		No	ClinGen ExAC gnomAD
rs969928713 CA30767694	212	P>L		No	ClinGen Ensembl
CA1126034 rs551487853	214	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1164657809 CA342590881	217	T>A		No	ClinGen TOPMed
CA1126032 rs538914112	217	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1126030 rs756416070	218	T>A		No	ClinGen ExAC gnomAD
CA342590875 rs1272557755	218	T>N		No	ClinGen gnomAD
rs753042845 CA1126029	220	Q>H		No	ClinGen ExAC gnomAD
rs1349148383 CA342590861	220	Q>R		No	ClinGen gnomAD
rs767796475 CA1126028	222	T>I		No	ClinGen ExAC gnomAD
CA30767665 rs11555361	229	K>N		No	ClinGen Ensembl
rs1477539312 CA342590790	231	K>Q		No	ClinGen TOPMed gnomAD
rs201312652 CA1126025	232	R>C		No	ClinGen ExAC TOPMed gnomAD
rs571707767 CA1126024	234	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	235	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779425411 CA30767663	238	E>D		No	ClinGen Ensembl
CA342590696 rs1175321560	244	D>N		No	ClinGen gnomAD
CA342590655 rs1263948841	249	L>S		No	ClinGen gnomAD
CA342590644 rs1188529910	250	E>D		No	ClinGen gnomAD

No associated diseases with Q9BWL3

2 regional properties for Q9BWL3

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	95 - 344	IPR004147
domain	UbiB domain, bacteria	95 - 344	IPR045308

Functions

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

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5XII8		Protein C1orf43 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MASGSNWLSG	VNVVLVMAYG	SLVFVLLFIF	VKRQIMRFAM	KSRRGPHVPV	GHNAPKDLKE
70	80	90	100	110	120
EIDIRLSRVQ	DIKYEPQLLA	DDDARLLQLE	TQGNQSCYNY	LYRMKALDAI	RTSEIPFHSE
130	140	150	160	170	180
GRHPRSLMGK	NFRSYLLDLR	NTSTPFKGVR	KALIDTLLDG	YETARYGTGV	FGQNEYLRYQ
190	200	210	220	230	240
EALSELATAV	KARIGSSQRH	HQSAAKDLTQ	SPEVSPTTIQ	VTYLPSSQKS	KRAKHFLELK
250
SFKDNYNTLE	STL