T185A_HUMAN
ID T185A_HUMAN Reviewed; 350 AA.
AC Q8NFB2; B3KTZ3; Q3SYH1; Q96CW3; Q96KE8;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Transmembrane protein 185A;
DE AltName: Full=Protein FAM11A;
GN Name=TMEM185A; Synonyms=CXorf13, FAM11A;
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 [MRNA].
RX PubMed=12404111; DOI=10.1038/sj.ejhg.5200881;
RA Shaw M.A., Chiurazzi P., Romain D.R., Neri G., Gecz J.;
RT "A novel gene, FAM11A, associated with the FRAXF CpG island is
RT transcriptionally silent in FRAXF full mutation.";
RL Eur. J. Hum. Genet. 10:767-772(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 148-350.
RC TISSUE=Iris;
RA Wistow G.;
RT "Novel iris cDNA from Xq28.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP INTERACTION WITH MAP1B.
RX PubMed=15525354; DOI=10.1111/j.1471-4159.2004.02799.x;
RA Maurer M.H., Gruenewald S., Gassler N., Rossner M., Propst F., Wuerz R.,
RA Weber D., Kuner T., Kuschinsky W., Schneider A.;
RT "Cloning of a novel neuronally expressed orphan G-protein-coupled receptor
RT which is up-regulated by erythropoietin, interacts with microtubule-
RT associated protein 1b and colocalizes with the 5-hydroxytryptamine 2a
RT receptor.";
RL J. Neurochem. 91:1007-1017(2004).
CC -!- SUBUNIT: Interacts with MAP1B. {ECO:0000269|PubMed:15525354}.
CC -!- INTERACTION:
CC Q8NFB2; P01019: AGT; NbExp=3; IntAct=EBI-21757569, EBI-751728;
CC Q8NFB2; P01100: FOS; NbExp=3; IntAct=EBI-21757569, EBI-852851;
CC Q8NFB2; P50440: GATM; NbExp=3; IntAct=EBI-21757569, EBI-2552594;
CC Q8NFB2; P62993: GRB2; NbExp=3; IntAct=EBI-21757569, EBI-401755;
CC Q8NFB2; Q00613: HSF1; NbExp=3; IntAct=EBI-21757569, EBI-719620;
CC Q8NFB2; P03952: KLKB1; NbExp=3; IntAct=EBI-21757569, EBI-10087153;
CC Q8NFB2; P06858: LPL; NbExp=3; IntAct=EBI-21757569, EBI-715909;
CC Q8NFB2; O96000: NDUFB10; NbExp=3; IntAct=EBI-21757569, EBI-1246371;
CC Q8NFB2; P40337-2: VHL; NbExp=3; IntAct=EBI-21757569, EBI-12157263;
CC -!- SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250}. Membrane
CC {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the TMEM185 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH13793.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF530473; AAM94598.1; -; mRNA.
DR EMBL; AK096308; BAG53255.1; -; mRNA.
DR EMBL; AK097391; BAC05031.1; -; mRNA.
DR EMBL; AC231844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC233288; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471169; EAW99368.1; -; Genomic_DNA.
DR EMBL; BC013793; AAH13793.1; ALT_INIT; mRNA.
DR EMBL; BC103821; AAI03822.1; -; mRNA.
DR EMBL; BC103822; AAI03823.1; -; mRNA.
DR EMBL; AF353675; AAK39521.1; -; mRNA.
DR CCDS; CCDS14689.1; -.
DR RefSeq; NP_001167563.1; NM_001174092.2.
DR RefSeq; NP_001269231.1; NM_001282302.1.
DR RefSeq; NP_115897.1; NM_032508.3.
DR AlphaFoldDB; Q8NFB2; -.
DR BioGRID; 124133; 87.
DR IntAct; Q8NFB2; 53.
DR STRING; 9606.ENSP00000471932; -.
DR iPTMnet; Q8NFB2; -.
DR PhosphoSitePlus; Q8NFB2; -.
DR SwissPalm; Q8NFB2; -.
DR BioMuta; TMEM185A; -.
DR DMDM; 550544296; -.
DR jPOST; Q8NFB2; -.
DR MassIVE; Q8NFB2; -.
DR MaxQB; Q8NFB2; -.
DR PaxDb; Q8NFB2; -.
DR PeptideAtlas; Q8NFB2; -.
DR PRIDE; Q8NFB2; -.
DR ProteomicsDB; 73285; -.
DR Antibodypedia; 74111; 57 antibodies from 17 providers.
DR DNASU; 84548; -.
DR Ensembl; ENST00000600449.8; ENSP00000471932.1; ENSG00000269556.9.
DR GeneID; 84548; -.
DR KEGG; hsa:84548; -.
DR MANE-Select; ENST00000600449.8; ENSP00000471932.1; NM_032508.4; NP_115897.1.
DR UCSC; uc033ezr.1; human.
DR CTD; 84548; -.
DR DisGeNET; 84548; -.
DR GeneCards; TMEM185A; -.
DR HGNC; HGNC:17125; TMEM185A.
DR HPA; ENSG00000269556; Low tissue specificity.
DR MalaCards; TMEM185A; -.
DR MIM; 300031; gene.
DR neXtProt; NX_Q8NFB2; -.
DR OpenTargets; ENSG00000269556; -.
DR Orphanet; 100974; FRAXF syndrome.
DR PharmGKB; PA27062; -.
DR VEuPathDB; HostDB:ENSG00000269556; -.
DR eggNOG; KOG3879; Eukaryota.
DR GeneTree; ENSGT00940000158388; -.
DR HOGENOM; CLU_053027_0_0_1; -.
DR InParanoid; Q8NFB2; -.
DR OrthoDB; 554512at2759; -.
DR PhylomeDB; Q8NFB2; -.
DR TreeFam; TF313829; -.
DR PathwayCommons; Q8NFB2; -.
DR SignaLink; Q8NFB2; -.
DR BioGRID-ORCS; 84548; 9 hits in 699 CRISPR screens.
DR ChiTaRS; TMEM185A; human.
DR GenomeRNAi; 84548; -.
DR Pharos; Q8NFB2; Tdark.
DR PRO; PR:Q8NFB2; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8NFB2; protein.
DR Bgee; ENSG00000269556; Expressed in right atrium auricular region and 132 other tissues.
DR ExpressionAtlas; Q8NFB2; baseline and differential.
DR Genevisible; Q8NFB2; HS.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR019396; TM_Fragile-X-F-assoc.
DR PANTHER; PTHR13568; PTHR13568; 1.
DR Pfam; PF10269; Tmemb_185A; 1.
PE 1: Evidence at protein level;
KW Cell projection; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..350
FT /note="Transmembrane protein 185A"
FT /id="PRO_0000188007"
FT TRANSMEM 16..36
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 41..61
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 177..197
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 211..231
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 240..260
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 298..350
FT /note="Mediates interaction with MAP1B"
FT /evidence="ECO:0000269|PubMed:15525354"
FT VARIANT 179
FT /note="M -> V (in dbSNP:rs396058)"
FT /id="VAR_033922"
FT VARIANT 243
FT /note="C -> S (in dbSNP:rs200553350)"
FT /id="VAR_033923"
SQ SEQUENCE 350 AA; 40647 MW; 2886F0BA9F83333E CRC64;
MNLRGLFQDF NPSKFLIYAC LLLFSVLLAL RLDGIIQWSY WAVFAPIWLW KLMVIVGASV
GTGVWARNPQ YRAEGETCVE FKAMLIAVGI HLLLLMFEVL VCDRIERGSH FWLLVFMPLF
FVSPVSVAAC VWGFRHDRSL ELEILCSVNI LQFIFIALRL DKIIHWPWLV VCVPLWILMS
FLCLVVLYYI VWSVLFLRSM DVIAEQRRTH ITMALSWMTI VVPLLTFEIL LVHKLDGHNA
FSCIPIFVPL WLSLITLMAT TFGQKGGNHW WFGIRKDFCQ FLLEIFPFLR EYGNISYDLH
HEDNEETEET PVPEPPKIAP MFRKKARVVI TQSPGKYVLP PPKLNIEMPD