TMM17_HUMAN
ID TMM17_HUMAN Reviewed; 198 AA.
AC Q86X19; Q53QP7; Q53R98;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Transmembrane protein 17;
GN Name=TMEM17;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-26.
RC TISSUE=Hypothalamus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP VARIANT LYS-102, AND CHARACTERIZATION OF VARIANT LYS-102.
RX PubMed=26982032; DOI=10.1371/journal.pbio.1002416;
RA Li C., Jensen V.L., Park K., Kennedy J., Garcia-Gonzalo F.R., Romani M.,
RA De Mori R., Bruel A.L., Gaillard D., Doray B., Lopez E., Riviere J.B.,
RA Faivre L., Thauvin-Robinet C., Reiter J.F., Blacque O.E., Valente E.M.,
RA Leroux M.R.;
RT "MKS5 and CEP290 dependent assembly pathway of the ciliary transition
RT zone.";
RL PLoS Biol. 14:E1002416-E1002416(2016).
CC -!- FUNCTION: Transmembrane component of the tectonic-like complex, a
CC complex localized at the transition zone of primary cilia and acting as
CC a barrier that prevents diffusion of transmembrane proteins between the
CC cilia and plasma membranes. Required for ciliogenesis and sonic
CC hedgehog/SHH signaling (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q86X19; Q08426: EHHADH; NbExp=3; IntAct=EBI-11343485, EBI-2339219;
CC Q86X19; O00560: SDCBP; NbExp=3; IntAct=EBI-11343485, EBI-727004;
CC Q86X19; Q9UHA2: SS18L2; NbExp=3; IntAct=EBI-11343485, EBI-10962400;
CC Q86X19; O95070: YIF1A; NbExp=4; IntAct=EBI-11343485, EBI-2799703;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}. Note=Localizes to the
CC transition zone of primary cilia. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the TMEM17 family. {ECO:0000305}.
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DR EMBL; AC093159; AAY24170.1; -; Genomic_DNA.
DR EMBL; AC107083; AAY24048.1; -; Genomic_DNA.
DR EMBL; BC047439; AAH47439.1; -; mRNA.
DR CCDS; CCDS1871.1; -.
DR RefSeq; NP_938017.2; NM_198276.2.
DR AlphaFoldDB; Q86X19; -.
DR BioGRID; 128342; 404.
DR IntAct; Q86X19; 403.
DR STRING; 9606.ENSP00000335094; -.
DR MoonDB; Q86X19; Predicted.
DR TCDB; 9.B.204.1.1; the 4 tms ciliary biogenesis tmem17 (tmem17) family.
DR GlyGen; Q86X19; 3 sites, 2 O-linked glycans (1 site).
DR iPTMnet; Q86X19; -.
DR PhosphoSitePlus; Q86X19; -.
DR BioMuta; TMEM17; -.
DR DMDM; 117949799; -.
DR MassIVE; Q86X19; -.
DR PaxDb; Q86X19; -.
DR PeptideAtlas; Q86X19; -.
DR PRIDE; Q86X19; -.
DR ProteomicsDB; 70222; -.
DR Antibodypedia; 15953; 57 antibodies from 12 providers.
DR DNASU; 200728; -.
DR Ensembl; ENST00000335390.6; ENSP00000335094.5; ENSG00000186889.10.
DR GeneID; 200728; -.
DR KEGG; hsa:200728; -.
DR MANE-Select; ENST00000335390.6; ENSP00000335094.5; NM_198276.3; NP_938017.2.
DR UCSC; uc002sbt.3; human.
DR CTD; 200728; -.
DR DisGeNET; 200728; -.
DR GeneCards; TMEM17; -.
DR HGNC; HGNC:26623; TMEM17.
DR HPA; ENSG00000186889; Low tissue specificity.
DR MIM; 614950; gene.
DR neXtProt; NX_Q86X19; -.
DR OpenTargets; ENSG00000186889; -.
DR PharmGKB; PA134962933; -.
DR VEuPathDB; HostDB:ENSG00000186889; -.
DR eggNOG; KOG4694; Eukaryota.
DR GeneTree; ENSGT00940000153899; -.
DR HOGENOM; CLU_092836_0_0_1; -.
DR InParanoid; Q86X19; -.
DR OMA; YFFPFWW; -.
DR OrthoDB; 1544916at2759; -.
DR PhylomeDB; Q86X19; -.
DR TreeFam; TF323824; -.
DR PathwayCommons; Q86X19; -.
DR SignaLink; Q86X19; -.
DR BioGRID-ORCS; 200728; 6 hits in 1071 CRISPR screens.
DR GenomeRNAi; 200728; -.
DR Pharos; Q86X19; Tbio.
DR PRO; PR:Q86X19; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q86X19; protein.
DR Bgee; ENSG00000186889; Expressed in buccal mucosa cell and 155 other tissues.
DR Genevisible; Q86X19; HS.
DR GO; GO:0060170; C:ciliary membrane; ISS:UniProtKB.
DR GO; GO:0035869; C:ciliary transition zone; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0036038; C:MKS complex; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:WormBase.
DR GO; GO:0007224; P:smoothened signaling pathway; ISS:UniProtKB.
DR InterPro; IPR019184; Uncharacterised_TM-17.
DR PANTHER; PTHR13531; PTHR13531; 1.
DR Pfam; PF09799; Transmemb_17; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Disease variant; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..198
FT /note="Transmembrane protein 17"
FT /id="PRO_0000255260"
FT TRANSMEM 45..65
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 142..162
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 13
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 23
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 26
FT /note="G -> S (in dbSNP:rs17854454)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028864"
FT VARIANT 102
FT /note="N -> K (found in a family diagnosed with
FT orofaciodigital syndrome; unknown pathological
FT significance; reduced cilia formation in patient
FT fibroblasts compared to control; dbSNP:rs201339749)"
FT /evidence="ECO:0000269|PubMed:26982032"
FT /id="VAR_075897"
SQ SEQUENCE 198 AA; 23046 MW; 5865AD283F595C3F CRC64;
MELPDPVRQR LGNFSRAVFS DSNRTGPESN EGPENEMVSS LALQMSLYFN TYYFPLWWVS
SIMMLHMKYS ILPDYYKFIV ITVIILITLI EAIRLYLGYV GNLQEKVPEL AGFWLLSLLL
QLPLILFLLF NEGLTNLPLE KAIHIIFTLF LAFQVVAAFL TLRKMVNQLA VRFHLQDFDR
LSANRGDMRR MRSCIEEI
