AiPD: Autoinhibited Protein Database

Q9HAT0

Gene name	ROPN1 (ROPN1A)
Protein name	Ropporin-1A
Names	Cancer/testis antigen 91, CT91, Rhophilin-associated protein 1A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54763
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

27-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

27-103 (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 Q9HAT0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HAT0-F1	Predicted				AlphaFoldDB

184 variants for Q9HAT0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2578801 rs756743345	2	A>D		No	ClinGen ExAC TOPMed gnomAD
rs750106979 CA2578803	2	A>T		No	ClinGen ExAC gnomAD
rs756743345 CA2578802	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA354360097 rs1353993818	3	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1440187857 CA354360101	3	Q>R		No	ClinGen TOPMed gnomAD
CA354360086 rs1473147774	5	D>G		No	ClinGen TOPMed
CA354360063 rs1411884678	8	T>I		No	ClinGen TOPMed
CA2578798 rs762930834	9	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2578796 rs765080435	10	I>T		No	ClinGen ExAC gnomAD
rs752613222 CA2578797	10	I>V		No	ClinGen ExAC gnomAD
rs776728938 CA2578794	11	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771133421 CA2578793	12	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1246750965 CA354360043	12	P>S		No	ClinGen gnomAD
rs138364183 CA354360024	15	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs138364183 CA2578791 TCGA novel	15	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD
rs1222302479 CA354360025	15	P>S		No	ClinGen gnomAD
rs748731630 CA2578789	16	K>N		No	ClinGen ExAC TOPMed gnomAD
CA354359981 rs1577369709	21	F>V		No	ClinGen Ensembl
rs769156905 CA2578786	24	A>P		No	ClinGen ExAC gnomAD
CA2578784 rs780741651	25	A>S		No	ClinGen ExAC gnomAD
rs780741651 CA2578785	25	A>T		No	ClinGen ExAC gnomAD
rs756977554 CA2578783	25	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777327413 CA2578781	26	I>V		No	ClinGen ExAC gnomAD
CA354359946 rs368582018	27	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1418463874 CA354359944	27	R>K		No	ClinGen gnomAD
rs141502040 CA2578779	28	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1479168882 CA354359932	29	Q>*		No	ClinGen gnomAD
rs750332870 CA82747287	32	D>V		No	ClinGen Ensembl
rs151245446 CA2578774	33	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA354359903 rs1577369597	33	L>H		No	ClinGen Ensembl
rs761005983 CA2578773	34	I>M		No	ClinGen ExAC gnomAD
CA2578772 rs773302506	35	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs767711435 CA2578771	37	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1189484125 CA354359870	38	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs769248722 CA2578768	39	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1577366436 CA354359730	40	Y>F		No	ClinGen Ensembl
TCGA novel	40	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2578721 rs773988233	41	F>S		No	ClinGen ExAC gnomAD
rs768225757 CA2578720	42	E>D		No	ClinGen ExAC gnomAD
CA354359708 rs1470370269	43	A>V		No	ClinGen gnomAD
CA2578719 rs748698454	45	S>P		No	ClinGen ExAC gnomAD
rs143261201 CA2578718	46	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA354359696 rs143261201	46	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2578717 rs112472718	46	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs933836585 CA82746027	48	E>G		No	ClinGen TOPMed
CA354359679 rs1559823102	49	T>A		No	ClinGen Ensembl
CA2578715 rs372586555	49	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs757118346 CA2578713	50	P>T		No	ClinGen ExAC gnomAD
CA2578711 rs777795851	51	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751839576 COSM1037395 CA2578712	51	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	53	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354359652 rs1339667143	54	E>Q		No	ClinGen gnomAD
rs765326815 CA2578708	55	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2578707 rs149212157	55	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149212157 CA354359645	55	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149212157 CA2578706	55	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765326815 CA2578709	55	R>W		No	ClinGen ExAC TOPMed gnomAD
CA354359638 rs1325029915	57	E>K		No	ClinGen gnomAD
rs766797307 CA2578705	58	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766797307 CA354359630	58	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2578704 rs370934131	58	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA354359625 rs1393240266	59	V>L		No	ClinGen gnomAD
CA2578703 rs774074649	60	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs988164833 CA82745991	61	L>F		No	ClinGen TOPMed gnomAD
CA2578702 RCV000965651 rs116674643	62	C>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2578701 rs575136281	64	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2578698 rs745864671	64	R>P		No	ClinGen ExAC gnomAD
CA2578699 rs745864671	64	R>Q		No	ClinGen ExAC gnomAD
CA2578700 rs575136281	64	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA82745958 rs376452569	65	A>P		No	ClinGen ESP TOPMed
CA354359586 rs1559822978	66	E>G		No	ClinGen Ensembl
rs1241124778 CA354359587	66	E>Q		No	ClinGen gnomAD
rs746755132 CA2578695	68	T>I		No	ClinGen ExAC
rs201779970 CA82745954	69	P>S		No	ClinGen TOPMed
rs559202847 CA2578694	70	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778919029 CA2578691	72	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1410786551 CA354359523	76	H>L		No	ClinGen TOPMed
rs1333657377 CA354359512	78	Q>*		No	ClinGen TOPMed
rs754347554 CA2578689	78	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1323408727 CA354359483	81	G>S		No	ClinGen gnomAD
CA354359470 rs1196047645	83	L>V		No	ClinGen TOPMed
CA354359462 rs1174977005	84	I>T		No	ClinGen gnomAD
CA354359450 rs1471974950	86	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770955863 CA2578678	86	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772932023 CA2578676	90	L>V		No	ClinGen ExAC
CA354359421 rs1378113650	91	A>T		No	ClinGen TOPMed
CA354359388 rs1467557719	95	K>E		No	ClinGen TOPMed
CA354359366 rs1490954316	98	N>T		No	ClinGen gnomAD
CA354359359 rs1166796664	99	L>F		No	ClinGen TOPMed gnomAD
CA2578674 COSM1327917 rs748387485	102	D>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA354359334 rs1286954088	103	L>P		No	ClinGen gnomAD
TCGA novel	104	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354359316 rs1222196708	105	N>K		No	ClinGen TOPMed gnomAD
CA354359311 rs1349927745	106	S>N		No	ClinGen TOPMed gnomAD
rs755064301 CA2578672	107	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1284217284 CA354359307	107	V>M		No	ClinGen gnomAD
CA82745533 rs530551214	108	M>I		No	ClinGen 1000Genomes
rs1343814522 CA354359271	112	R>C		No	ClinGen gnomAD
COSM1037393 rs201837719 CA2578671	112	R>H	kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs780075849 CA2578670	113	F>V		No	ClinGen ExAC gnomAD
rs756660830 CA82745520	114	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2578669 rs756660830	114	T>M		No	ClinGen ExAC TOPMed gnomAD
CA354359257 rs1156819271	115	E>K		No	ClinGen gnomAD
CA354359244 rs1456293902	116	E>A		No	ClinGen gnomAD
rs1456293902 CA354359246	116	E>G		No	ClinGen gnomAD
CA2578668 rs750925930	118	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2578667 rs767833786	121	K>T		No	ClinGen ExAC gnomAD
CA354359204 rs1577364788	122	F>V		No	ClinGen Ensembl
CA354359188 rs1280258944	124	A>D		No	ClinGen TOPMed
rs1453516642 CA354359183	125	L>F		No	ClinGen gnomAD
rs1251384074 CA354359174	126	A>D		No	ClinGen gnomAD
CA354359179 rs1354425596	126	A>T		No	ClinGen TOPMed
rs1218978775 CA354359170	127	C>Y		No	ClinGen TOPMed
rs1191045963 CA354359164	128	S>G		No	ClinGen gnomAD
rs757571488 CA354359158	128	S>R		No	ClinGen ExAC gnomAD
CA2578665 rs564994449	129	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354359136 rs1207348768	132	V>A		No	ClinGen gnomAD
CA2578654 rs749489239	133	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2578653 rs780163393	134	I>S		No	ClinGen ExAC gnomAD
rs756180229 CA2578652	138	L>V		No	ClinGen ExAC gnomAD
rs200173296 CA2578651	140	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781679746 CA2578649	141	V>A		No	ClinGen ExAC TOPMed gnomAD
rs751012202 CA2578650	141	V>S		No	ClinGen ExAC
rs796950287 CA82742950	142	C>G		No	ClinGen Ensembl
CA2578648 rs145255014	144	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354358424 rs1482311217	144	V>F		No	ClinGen gnomAD
TCGA novel	147	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2578646 rs778255639	148	D>A		No	ClinGen ExAC gnomAD
rs754729357 CA2578645	148	D>E		No	ClinGen ExAC gnomAD
TCGA novel	148	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354358337 rs1317058754	149	H>Q		No	ClinGen gnomAD
rs753530728 CA2578644	149	H>R		No	ClinGen ExAC gnomAD
rs1449892841 CA354358304	151	G>D		No	ClinGen gnomAD
CA2578642 rs760165915	152	G>E		No	ClinGen ExAC gnomAD
CA354358275 rs140868038	153	S>*		No	ClinGen TOPMed
COSM109309 rs140868038 CA82742937	153	S>L	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1352343219 CA354358266	154	P>S		No	ClinGen gnomAD
rs767494215 CA2578638	155	R>P		No	ClinGen ExAC TOPMed gnomAD
rs767494215 CA2578637	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2578639 rs146441719	155	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA354358213 rs1185028157	157	P>L		No	ClinGen TOPMed
CA354358208 rs1383048439	158	F>L		No	ClinGen TOPMed
rs1443668318 CA354358173	159	S>R		No	ClinGen TOPMed
rs775619072 CA2578634	163	F>L		No	ClinGen ExAC gnomAD
CA2578633 rs769772715	166	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	166	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774083393 CA82742880	167	Y>D		No	ClinGen TOPMed gnomAD
CA354358010 rs1293907394	168	I>F		No	ClinGen gnomAD
rs1242551055 CA354358004	168	I>T		No	ClinGen TOPMed gnomAD
rs184315106 CA354357981	169	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2578630 rs184315106	169	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313047544 CA354357954	170	K>N		No	ClinGen TOPMed
CA354357945 rs1307096513	171	V>M		No	ClinGen gnomAD
CA354357917 rs1307015320	172	D>V		No	ClinGen gnomAD
rs1370818472 CA354357929	172	D>Y		No	ClinGen gnomAD
CA354357893 rs1366552600	173	G>R		No	ClinGen gnomAD
rs1433877469 CA354357867	174	E>Q		No	ClinGen gnomAD
rs532182825 CA2578627	175	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354357818 rs1368342451	176	S>C		No	ClinGen gnomAD
CA2578626 rs753547120	177	A>V		No	ClinGen ExAC gnomAD
CA2578625 rs779796181	179	H>R		No	ClinGen ExAC gnomAD
rs1553726073 CA2578623	180	V>I		No	ClinGen Ensembl
rs766913548 CA2578620	187	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2578621 rs201154163	187	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2578619 rs761866401	188	E>G		No	ClinGen ExAC TOPMed gnomAD
CA354357512 rs1559820220	190	E>Q		No	ClinGen Ensembl
rs1272703186 CA354356587	192	I>T		No	ClinGen gnomAD
CA2578601 rs780819735	193	G>V		No	ClinGen ExAC TOPMed
rs139252642 CA2578600	194	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA354356571 rs1559819869	195	D>H		No	ClinGen Ensembl
CA354356570 rs1559819869	195	D>N		No	ClinGen Ensembl
CA354356560 rs1222884792	196	G>A		No	ClinGen TOPMed
CA2578597 rs763966989	200	V>A		No	ClinGen ExAC gnomAD
rs751508571 CA2578598	200	V>L		No	ClinGen ExAC gnomAD
CA354356523 rs1258832761	202	D>G		No	ClinGen gnomAD
rs758217674 CA2578596	202	D>N		No	ClinGen ExAC TOPMed gnomAD
rs978453546 CA354356504	205	Q>*		No	ClinGen TOPMed gnomAD
CA82742194 rs978453546	205	Q>K		No	ClinGen TOPMed gnomAD
rs867462333 CA82742192	205	Q>P		No	ClinGen Ensembl
rs1232940101 CA354356499	206	N>H		No	ClinGen TOPMed
CA2578593 rs372440685	207	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA354356484 rs1176362630	208	R>K		No	ClinGen TOPMed
CA2578592 rs776716610	209	V>I		No	ClinGen ExAC
CA354356470 rs1463500905	210	Q>R		No	ClinGen gnomAD

No associated diseases with Q9HAT0

4 regional properties for Q9HAT0

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	394 - 556	IPR001650
domain	DEAD/DEAH box helicase domain	150 - 226	IPR011545-1
domain	DEAD/DEAH box helicase domain	298 - 367	IPR011545-2
domain	Helicase superfamily 1/2, ATP-binding domain	142 - 398	IPR014001

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium, flagellum	In the sperm tail, found in the principal piece and in the cytoplasmic droplet located at the distal end of the midpiece Inner surface of the fibrous sheath
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
motile cilium	A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.
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.

1 GO annotations of molecular function

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

5 GO annotations of biological process

Name	Definition
cilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
protein localization to cilium	A process in which a protein is transported to, or maintained in, a location within a cilium.
regulation of protein phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
sperm capacitation	A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZX4	ROPN1B	Ropporin-1B	Homo sapiens (Human)	PR
Q96C74	ROPN1L	Ropporin-1-like protein	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAQTDKPTCI	PPELPKMLKE	FAKAAIRVQP	QDLIQWAADY	FEALSRGETP	PVRERSERVA
70	80	90	100	110	120
LCNRAELTPE	LLKILHSQVA	GRLIIRAEEL	AQMWKVVNLP	TDLFNSVMNV	GRFTEEIEWL
130	140	150	160	170	180
KFLALACSAL	GVTITKTLKI	VCEVLSCDHN	GGSPRIPFST	FQFLYTYIAK	VDGEISASHV
190	200	210
SRMLNYMEQE	VIGPDGIITV	NDFTQNPRVQ	LE