TM216_DANRE
ID TM216_DANRE Reviewed; 160 AA.
AC E7EYQ9;
DT 21-MAR-2012, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 1.
DT 03-AUG-2022, entry version 58.
DE RecName: Full=Transmembrane protein 216;
GN Name=tmem216;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP DISRUPTION PHENOTYPE.
RX PubMed=22282472; DOI=10.1126/science.1213506;
RA Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E.,
RA Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C.,
RA Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H.,
RA Attie-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R.,
RA Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S.,
RA Gleeson J.G.;
RT "Evolutionarily assembled cis-regulatory module at a human ciliopathy
RT locus.";
RL Science 335:966-969(2012).
CC -!- FUNCTION: Part of the tectonic-like complex which is required for
CC tissue-specific ciliogenesis and may regulate ciliary membrane
CC composition. {ECO:0000250}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Note=Localizes at the transition zone, a region between
CC the basal body and the ciliary axoneme. {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: Ciliary phenotypes such as pericardial effusion,
CC hydrocephalic brain, curved or kinked tail, gastrulation defects and
CC other severe defects in left/right axis. {ECO:0000269|PubMed:22282472}.
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DR EMBL; AL645792; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; E7EYQ9; -.
DR STRING; 7955.ENSDARP00000111752; -.
DR TCDB; 9.B.204.1.2; the 4 tms ciliary biogenesis tmem17 (tmem17) family.
DR PaxDb; E7EYQ9; -.
DR Ensembl; ENSDART00000131027; ENSDARP00000111752; ENSDARG00000091576.
DR ZFIN; ZDB-GENE-100818-1; tmem216.
DR eggNOG; KOG4502; Eukaryota.
DR GeneTree; ENSGT00940000153899; -.
DR InParanoid; E7EYQ9; -.
DR OMA; QFPWGLK; -.
DR PhylomeDB; E7EYQ9; -.
DR TreeFam; TF323824; -.
DR Reactome; R-DRE-5620912; Anchoring of the basal body to the plasma membrane.
DR PRO; PR:E7EYQ9; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 14.
DR Bgee; ENSDARG00000091576; Expressed in testis and 21 other tissues.
DR ExpressionAtlas; E7EYQ9; baseline.
DR GO; GO:0035869; C:ciliary transition zone; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0060027; P:convergent extension involved in gastrulation; IGI:ZFIN.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR InterPro; IPR019184; Uncharacterised_TM-17.
DR PANTHER; PTHR13531; PTHR13531; 1.
DR Pfam; PF09799; Transmemb_17; 1.
PE 3: Inferred from homology;
KW Cell projection; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..160
FT /note="Transmembrane protein 216"
FT /id="PRO_0000416297"
FT TRANSMEM 41..61
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 101..121
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 134..154
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 160 AA; 18216 MW; 86DF135F2268FCEF CRC64;
MADVCLRLQY ACPWQSNMAA HGRQPVLSST PLQILFHLNG WYFAAFFVAE ILMFIYKGVI
LPYPQDNLIL DVVLLLLFSG LETLRLFYGW KGNLCQRSLA LFVSVAILVP CAVLSVYYLL
LQTFVLRLEF VLNAVLLCFY GFELVLGVMT ISIFSRANIY