TMCO3_HUMAN
ID TMCO3_HUMAN Reviewed; 677 AA.
AC Q6UWJ1; Q5JSB1; Q6NUN1; Q8NG29; Q8TCI6; Q96EA6; Q9NWT2;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Transmembrane and coiled-coil domain-containing protein 3;
DE AltName: Full=Putative LAG1-interacting protein;
DE Flags: Precursor;
GN Name=TMCO3; Synonyms=C13orf11; ORFNames=UNQ2419/PRO4976;
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 MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 206-677 (ISOFORM 1), AND VARIANT THR-445.
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=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Hippocampus;
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 143-397 (ISOFORM 1).
RA Pan H., Xu Z.G., Huo K.K., Li Y.Y.;
RT "Interactors of a human homolog of yeast LAG1 gene.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP VARIANT LEU-14, AND TISSUE SPECIFICITY.
RX PubMed=27484837; DOI=10.1038/srep31021;
RA Chen P., Hao X., Li W., Zhao X., Huang Y.;
RT "Mutations in the TMCO3 gene are associated with cornea guttata and
RT anterior polar cataract.";
RL Sci. Rep. 6:31021-31021(2016).
CC -!- FUNCTION: Probable Na(+)/H(+) antiporter. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6UWJ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWJ1-2; Sequence=VSP_020563, VSP_020564;
CC Name=3;
CC IsoId=Q6UWJ1-3; Sequence=VSP_020561, VSP_020562;
CC -!- TISSUE SPECIFICITY: Expressed in the cornea, lens capsule and choroid-
CC retinal pigment epithelium (at protein level).
CC {ECO:0000269|PubMed:27484837}.
CC -!- SIMILARITY: Belongs to the monovalent cation:proton antiporter 2 (CPA2)
CC transporter (TC 2.A.37) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAM92892.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB85074.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY358768; AAQ89128.1; -; mRNA.
DR EMBL; AK000630; BAA91295.1; -; mRNA.
DR EMBL; AK074415; BAB85074.1; ALT_INIT; mRNA.
DR EMBL; AL442125; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC068515; AAH68515.1; -; mRNA.
DR EMBL; BC012564; AAH12564.1; -; mRNA.
DR EMBL; AF209505; AAM92892.1; ALT_FRAME; mRNA.
DR CCDS; CCDS86365.1; -. [Q6UWJ1-2]
DR CCDS; CCDS9537.1; -. [Q6UWJ1-1]
DR RefSeq; NP_060375.4; NM_017905.4. [Q6UWJ1-1]
DR RefSeq; XP_006720032.1; XM_006719969.1. [Q6UWJ1-1]
DR RefSeq; XP_011535800.1; XM_011537498.2. [Q6UWJ1-1]
DR AlphaFoldDB; Q6UWJ1; -.
DR SMR; Q6UWJ1; -.
DR BioGRID; 120334; 59.
DR IntAct; Q6UWJ1; 40.
DR MINT; Q6UWJ1; -.
DR STRING; 9606.ENSP00000389399; -.
DR TCDB; 2.A.37.1.11; the monovalent cation:proton antiporter-2 (cpa2) family.
DR GlyGen; Q6UWJ1; 4 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q6UWJ1; -.
DR PhosphoSitePlus; Q6UWJ1; -.
DR BioMuta; TMCO3; -.
DR DMDM; 74749389; -.
DR EPD; Q6UWJ1; -.
DR jPOST; Q6UWJ1; -.
DR MassIVE; Q6UWJ1; -.
DR MaxQB; Q6UWJ1; -.
DR PaxDb; Q6UWJ1; -.
DR PeptideAtlas; Q6UWJ1; -.
DR PRIDE; Q6UWJ1; -.
DR ProteomicsDB; 67484; -. [Q6UWJ1-1]
DR ProteomicsDB; 67485; -. [Q6UWJ1-2]
DR ProteomicsDB; 67486; -. [Q6UWJ1-3]
DR Antibodypedia; 25950; 63 antibodies from 17 providers.
DR DNASU; 55002; -.
DR Ensembl; ENST00000375391.5; ENSP00000364540.1; ENSG00000150403.18. [Q6UWJ1-3]
DR Ensembl; ENST00000434316.7; ENSP00000389399.2; ENSG00000150403.18. [Q6UWJ1-1]
DR Ensembl; ENST00000474393.5; ENSP00000484053.1; ENSG00000150403.18. [Q6UWJ1-2]
DR GeneID; 55002; -.
DR KEGG; hsa:55002; -.
DR MANE-Select; ENST00000434316.7; ENSP00000389399.2; NM_017905.6; NP_060375.4.
DR UCSC; uc001vtt.5; human. [Q6UWJ1-1]
DR CTD; 55002; -.
DR DisGeNET; 55002; -.
DR GeneCards; TMCO3; -.
DR HGNC; HGNC:20329; TMCO3.
DR HPA; ENSG00000150403; Low tissue specificity.
DR MIM; 617134; gene.
DR neXtProt; NX_Q6UWJ1; -.
DR OpenTargets; ENSG00000150403; -.
DR PharmGKB; PA134989495; -.
DR VEuPathDB; HostDB:ENSG00000150403; -.
DR eggNOG; KOG1650; Eukaryota.
DR GeneTree; ENSGT00390000001394; -.
DR HOGENOM; CLU_026093_0_0_1; -.
DR InParanoid; Q6UWJ1; -.
DR OMA; IKAHASK; -.
DR PhylomeDB; Q6UWJ1; -.
DR TreeFam; TF329364; -.
DR PathwayCommons; Q6UWJ1; -.
DR SignaLink; Q6UWJ1; -.
DR BioGRID-ORCS; 55002; 21 hits in 1077 CRISPR screens.
DR ChiTaRS; TMCO3; human.
DR GenomeRNAi; 55002; -.
DR Pharos; Q6UWJ1; Tdark.
DR PRO; PR:Q6UWJ1; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q6UWJ1; protein.
DR Bgee; ENSG00000150403; Expressed in stromal cell of endometrium and 184 other tissues.
DR ExpressionAtlas; Q6UWJ1; baseline and differential.
DR Genevisible; Q6UWJ1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015386; F:potassium:proton antiporter activity; IEA:InterPro.
DR Gene3D; 1.20.1530.20; -; 1.
DR InterPro; IPR006153; Cation/H_exchanger.
DR InterPro; IPR045158; KEA4/5/6-like.
DR InterPro; IPR038770; Na+/solute_symporter_sf.
DR PANTHER; PTHR16254; PTHR16254; 1.
DR Pfam; PF00999; Na_H_Exchanger; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Antiport; Coiled coil; Glycoprotein; Ion transport;
KW Membrane; Reference proteome; Signal; Transmembrane; Transmembrane helix;
KW Transport.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..677
FT /note="Transmembrane and coiled-coil domain-containing
FT protein 3"
FT /id="PRO_0000249856"
FT TRANSMEM 286..306
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 317..337
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 350..370
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 416..436
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 456..476
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 498..518
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 554..574
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 578..598
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 608..628
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 640..660
FT /note="Helical"
FT /evidence="ECO:0000255"
FT COILED 124..204
FT /evidence="ECO:0000255"
FT CARBOHYD 206
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 230
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 410..414
FT /note="DIDYS -> NRTAL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020561"
FT VAR_SEQ 415..677
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020562"
FT VAR_SEQ 515..524
FT /note="TELLDVSMEL -> ILKLCVIYVI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020563"
FT VAR_SEQ 525..677
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020564"
FT VARIANT 14
FT /note="P -> L (found in a patient with cornea guttata with
FT anterior polar cataracts; unknown pathological
FT significance; dbSNP:rs185071949)"
FT /id="VAR_076964"
FT VARIANT 443
FT /note="A -> T (in dbSNP:rs2260335)"
FT /id="VAR_050037"
FT VARIANT 445
FT /note="A -> T (in dbSNP:rs7319493)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050038"
FT CONFLICT 223
FT /note="E -> G (in Ref. 2; BAA91295)"
FT /evidence="ECO:0000305"
FT CONFLICT 380
FT /note="S -> N (in Ref. 5; AAM92892)"
FT /evidence="ECO:0000305"
FT CONFLICT 388
FT /note="S -> A (in Ref. 5; AAM92892)"
FT /evidence="ECO:0000305"
FT CONFLICT 436
FT /note="P -> R (in Ref. 4; AAH68515)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 677 AA; 75598 MW; 138AA9B424D4A668 CRC64;
MKVLGRSFFW VLFPVLPWAV QAVEHEEVAQ RVIKLHRGRG VAAMQSRQWV RDSCRKLSGL
LRQKNAVLNK LKTAIGAVEK DVGLSDEEKL FQVHTFEIFQ KELNESENSV FQAVYGLQRA
LQGDYKDVVN MKESSRQRLE ALREAAIKEE TEYMELLAAE KHQVEALKNM QHQNQSLSML
DEILEDVRKA ADRLEEEIEE HAFDDNKSVK GVNFEAVLRV EEEEANSKQN ITKREVEDDL
GLSMLIDSQN NQYILTKPRD STIPRADHHF IKDIVTIGML SLPCGWLCTA IGLPTMFGYI
ICGVLLGPSG LNSIKSIVQV ETLGEFGVFF TLFLVGLEFS PEKLRKVWKI SLQGPCYMTL
LMIAFGLLWG HLLRIKPTQS VFISTCLSLS STPLVSRFLM GSARGDKEGD IDYSTVLLGM
LVTQDVQLGL FMAVMPTLIQ AGASASSSIV VEVLRILVLI GQILFSLAAV FLLCLVIKKY
LIGPYYRKLH MESKGNKEIL ILGISAFIFL MLTVTELLDV SMELGCFLAG ALVSSQGPVV
TEEIATSIEP IRDFLAIVFF ASIGLHVFPT FVAYELTVLV FLTLSVVVMK FLLAALVLSL
ILPRSSQYIK WIVSAGLAQV SEFSFVLGSR ARRAGVISRE VYLLILSVTT LSLLLAPVLW
RAAITRCVPR PERRSSL
