AiPD: Autoinhibited Protein Database

Q86X19

Gene name	TMEM17
Protein name	Transmembrane protein 17
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:200728
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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 Q86X19

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86X19-F1	Predicted				AlphaFoldDB

167 variants for Q86X19

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1679952785 RCV001175227	101	G>V	Joubert syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_075897 CA1680563 RCV000664048 rs201339749	102	N>K	Orofaciodigital syndrome i (ofd1) Orofaciodigital syndrome I found in a family diagnosed with orofaciodigital syndrome; unknown pathological significance; reduced cilia formation in patient fibroblasts compared to control [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA1680673 rs751459179	2	E>D		No	ClinGen ExAC TOPMed gnomAD
CA347050628 rs1393162416	3	L>M		No	ClinGen gnomAD
rs1241320368 CA347050619	4	P>L		No	ClinGen TOPMed gnomAD
rs1241320368 CA347050620	4	P>R		No	ClinGen TOPMed gnomAD
CA49135392 rs1044780562	4	P>S		No	ClinGen TOPMed gnomAD
CA347050622 rs1044780562	4	P>T		No	ClinGen TOPMed gnomAD
rs754118680 CA1680670	5	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1680671 rs758132094	5	D>G		No	ClinGen ExAC gnomAD
CA347050612 rs766616731	6	P>A		No	ClinGen ExAC TOPMed gnomAD
CA347050608 rs1484292952	6	P>L		No	ClinGen TOPMed
CA1680669 rs766616731	6	P>T		No	ClinGen ExAC TOPMed gnomAD
CA347050602 rs1345166376	7	V>G		No	ClinGen TOPMed gnomAD
CA347050607 rs1266717438	7	V>M		No	ClinGen TOPMed
rs1277070237 CA347050597	8	R>H		No	ClinGen TOPMed gnomAD
rs1363018120 CA347050593	9	Q>*		No	ClinGen gnomAD
CA1680667 rs368040293	9	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs767442879 CA1680666	11	L>R		No	ClinGen ExAC TOPMed gnomAD
rs774929065 CA1680664	12	G>E		No	ClinGen ExAC TOPMed gnomAD
rs769470258 CA1680660	14	F>L		No	ClinGen ExAC
rs1410469252 CA347050551	15	S>R		No	ClinGen gnomAD
rs1573440049 CA347050554	15	S>T		No	ClinGen Ensembl
CA1680658 rs150884514	16	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs745466218 CA1680659	16	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1680657 rs199885237	17	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA347050527 rs752457591	20	S>C		No	ClinGen ExAC gnomAD
CA1680653 rs752457591	20	S>G		No	ClinGen ExAC gnomAD
rs72885228 CA1680652	20	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347050517 rs1275765413	21	D>E		No	ClinGen TOPMed
rs910740808 CA49135390	21	D>N		No	ClinGen TOPMed gnomAD
CA1680651 rs78110679	22	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1680650 rs750567395	22	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA1680649 COSM1229583 rs372401879	23	N>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs372401879 CA1680648	23	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347050504 rs913282627	24	R>P		No	ClinGen TOPMed gnomAD
CA49135389 rs913282627	24	R>Q		No	ClinGen TOPMed gnomAD
CA1680647 rs373057670	24	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1680644 rs775948592	25	T>A		No	ClinGen ExAC gnomAD
rs17854454 CA1680642 VAR_028864	26	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347050489 rs961770169	27	P>L		No	ClinGen gnomAD
rs961770169 CA49135388	27	P>R		No	ClinGen gnomAD
CA1680641 rs138022458	27	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746519128 CA1680639	28	E>Q		No	ClinGen ExAC gnomAD
rs201641861 CA1680637	30	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1680638 rs201641861	30	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347050463 rs1177256699	31	E>D		No	ClinGen gnomAD
CA347050469 rs1421689113	31	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347050464 rs1409787688	31	E>V		No	ClinGen gnomAD
rs1480050124 CA347050450	33	P>L		No	ClinGen gnomAD
CA347050435 rs1250084789	34	E>A		No	ClinGen Ensembl
CA49135065 rs1036163954	35	N>D		No	ClinGen TOPMed
rs140360224 CA1680613	38	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1680610 rs757578627	42	A>E		No	ClinGen ExAC gnomAD
CA1680611 rs781617740	42	A>P		No	ClinGen ExAC gnomAD
CA1680608 rs778009254	43	L>M		No	ClinGen ExAC gnomAD
rs758494785 CA1680607	45	M>I		No	ClinGen ExAC gnomAD
CA533658005 rs1248312650	48	Y>*		No	ClinGen TOPMed gnomAD
CA347050331 rs1187260784	49	F>S		No	ClinGen gnomAD
rs779285293 CA1680605	51	T>A		No	ClinGen ExAC gnomAD
CA347050316 rs1573436584	51	T>I		No	ClinGen Ensembl
CA347050312 rs1392563929	52	Y>C		No	ClinGen TOPMed
rs1178821716 CA347050291	55	P>T		No	ClinGen TOPMed gnomAD
CA49135063 rs932011699	56	L>Q		No	ClinGen TOPMed gnomAD
CA1680602 rs766679142	58	W>*		No	ClinGen ExAC gnomAD
rs143642405 CA49135062	60	S>N		No	ClinGen ESP TOPMed
CA49135060 rs921917921	62	I>F		No	ClinGen TOPMed
rs760351136 CA1680601	63	M>I		No	ClinGen ExAC gnomAD
CA1680599 rs751101151	64	M>K		No	ClinGen ExAC TOPMed gnomAD
rs751101151 CA1680600	64	M>T		No	ClinGen ExAC TOPMed gnomAD
CA49135059 rs976154871	64	M>V		No	ClinGen TOPMed gnomAD
rs1222429485 CA347050179	69	Y>H		No	ClinGen TOPMed
CA347050165 rs1355075157	71	I>V		No	ClinGen TOPMed
rs1475656468 CA347050151	73	P>A		No	ClinGen gnomAD
CA347050147 rs1368173821	73	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751055589 CA1680578	75	Y>S		No	ClinGen ExAC gnomAD
CA347050108 rs1454689429	78	F>L		No	ClinGen TOPMed gnomAD
rs201770173 CA1680576	79	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347050098 rs1239434272	80	V>A		No	ClinGen TOPMed
rs947567624 CA49135052	81	I>L		No	ClinGen Ensembl
CA1680574 rs769773612	83	V>F		No	ClinGen ExAC gnomAD
CA347050055 rs1380812872	87	I>T		No	ClinGen TOPMed
CA1680570 rs200158161	90	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1680568 rs768710292 COSM221239	94	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778888021 CA1680569	94	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1440410132 CA347050006	95	L>*		No	ClinGen TOPMed
rs1558723291 CA347050001	96	Y>H		No	ClinGen Ensembl
CA1680567 rs139384662	99	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs746198139 CA1680564	100	V>E		No	ClinGen ExAC gnomAD
COSM390567 rs770993930 CA1680565	100	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	102	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201135526 CA347049950	104	Q>P		No	ClinGen TOPMed
rs931874332 CA49135049	106	K>N		No	ClinGen TOPMed gnomAD
rs1273437469 CA347049912	108	P>S		No	ClinGen gnomAD
rs1558722781 CA347049905	109	E>G		No	ClinGen Ensembl
CA49134952 rs1021623930	112	G>R		No	ClinGen TOPMed gnomAD
CA347049873 rs1398181134	114	W>R		No	ClinGen gnomAD
CA347049864 rs1262816682	115	L>V		No	ClinGen TOPMed gnomAD
rs1176622987 CA347049855	116	L>F		No	ClinGen TOPMed gnomAD
CA1680537 rs373283891	116	L>S		No	ClinGen ESP ExAC gnomAD
rs766098169 CA1680535	118	L>F		No	ClinGen ExAC TOPMed gnomAD
CA49134951 rs76747885	120	L>F		No	ClinGen Ensembl
CA1680532 rs764344819	123	P>R		No	ClinGen ExAC gnomAD
CA347049809 rs1321614247	124	L>I		No	ClinGen gnomAD
COSM285788 rs763067703 CA1680531	126	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
TCGA novel	127	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA49134948 rs1019167498	132	E>G		No	ClinGen TOPMed gnomAD
rs145977369 CA1680528	135	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372192566 CA1680527	136	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA347049726 rs1558722731	136	N>S		No	ClinGen Ensembl
rs1018976859 CA49134947	137	L>P		No	ClinGen TOPMed
CA1680525 rs747371433	142	A>S		No	ClinGen ExAC gnomAD
CA347049686 rs1558722710	142	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1437603718 CA347049679	143	I>M		No	ClinGen TOPMed
rs1319071231 CA347049684	143	I>V		No	ClinGen gnomAD
rs1177854503 CA347049674	144	H>R		No	ClinGen TOPMed
CA49134944 rs1010947069	145	I>T		No	ClinGen TOPMed
rs771875781 CA1680523	145	I>V		No	ClinGen ExAC TOPMed gnomAD
CA347049658 rs1217041559	147	F>I		No	ClinGen gnomAD
CA347049651 rs1357678658	147	F>L		No	ClinGen gnomAD
rs750977609 CA49134943	148	T>P		No	ClinGen Ensembl
CA347049637 rs1170346365	150	F>L		No	ClinGen TOPMed
CA347049621 rs1558722674	152	A>G		No	ClinGen Ensembl
rs1401014478 CA347049610	154	Q>E		No	ClinGen TOPMed
CA49134942 rs893800232	156	V>L		No	ClinGen TOPMed gnomAD
rs778568093 CA1680521	157	A>P		No	ClinGen ExAC gnomAD
CA347049575 rs1330850480	159	F>L		No	ClinGen gnomAD
rs1573434984 CA347049568	160	L>R		No	ClinGen Ensembl
CA49134941 rs200604217	162	L>*		No	ClinGen Ensembl
rs1445034507 CA347049536	165	M>T		No	ClinGen TOPMed
rs1309123398 CA347049526	166	V>A		No	ClinGen TOPMed
rs1475980849 CA347049523	167	N>H		No	ClinGen gnomAD
CA49134940 rs1025362358	168	Q>R		No	ClinGen Ensembl
rs753772729 CA1680519	169	L>F		No	ClinGen ExAC TOPMed gnomAD
CA347049500 rs1241249492	170	A>G		No	ClinGen TOPMed
rs780035974 CA1680518	171	V>I		No	ClinGen ExAC gnomAD
CA1680517 rs755900951	172	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1680516 rs561991904 COSM1408950	172	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA347049493 rs755900951	172	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1207267812 CA347049475	174	H>Q		No	ClinGen gnomAD
rs1265232499 CA347049467	176	Q>E		No	ClinGen TOPMed
rs201737389 CA1680515	177	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347049443 rs1197799495	179	D>H		No	ClinGen TOPMed
rs150163358 CA347049434	180	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA347049435 rs150163358	180	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs150163358 CA1680513	180	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1680514 rs149330570	180	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1680512 rs765360386	183	A>V		No	ClinGen ExAC gnomAD
CA347049410 rs1447428296	184	N>K		No	ClinGen gnomAD
CA347049413 rs1281157016	184	N>S		No	ClinGen gnomAD
TCGA novel	186	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112787946 CA1680511	186	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1680510 rs777048306	187	D>Y		No	ClinGen ExAC gnomAD
rs151117648 CA1680509	188	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	188	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347049388 rs151117648	188	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA347049367 rs1350074185	191	M>L		No	ClinGen gnomAD
TCGA novel	192	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773660463 CA1680507	193	S>T		No	ClinGen ExAC gnomAD
rs1464348399 CA347049341	194	C>F		No	ClinGen TOPMed
CA347049343 rs1464348399	194	C>Y		No	ClinGen TOPMed
rs747813300 CA1680505	195	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1680504 rs564483561	197	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564483561 CA347049323	197	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1680503 rs768343913	198	I>V		No	ClinGen ExAC gnomAD
CA347049310 rs1221130373	199	I>R		No	ClinGen gnomAD

No associated diseases with Q86X19

No regional properties for Q86X19

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q86X19

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium membrane ; Multi-pass membrane protein	Localizes to the transition zone of primary cilia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
ciliary membrane	The portion of the plasma membrane surrounding a cilium.
ciliary transition zone	A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm.
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.
MKS complex	A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
cilium assembly	The assembly 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.
non-motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8K0U3	Tmem17	Transmembrane protein 17	Mus musculus (Mouse)	PR
Q5HZE5	Tmem17	Transmembrane protein 17	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MELPDPVRQR	LGNFSRAVFS	DSNRTGPESN	EGPENEMVSS	LALQMSLYFN	TYYFPLWWVS
70	80	90	100	110	120
SIMMLHMKYS	ILPDYYKFIV	ITVIILITLI	EAIRLYLGYV	GNLQEKVPEL	AGFWLLSLLL
130	140	150	160	170	180
QLPLILFLLF	NEGLTNLPLE	KAIHIIFTLF	LAFQVVAAFL	TLRKMVNQLA	VRFHLQDFDR
190
LSANRGDMRR	MRSCIEEI