TMC7_HUMAN
ID TMC7_HUMAN Reviewed; 723 AA.
AC Q7Z402; E7ERB6; Q5H9Q8; Q7Z5M4; Q86WX0; Q9H766;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Transmembrane channel-like protein 7;
GN Name=TMC7;
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] (ISOFORM 1), AND VARIANT GLU-254.
RX PubMed=12812529; DOI=10.1186/1471-2164-4-24;
RA Keresztes G., Mutai H., Heller S.;
RT "TMC and EVER genes belong to a larger novel family, the TMC gene family
RT encoding transmembrane proteins.";
RL BMC Genomics 4:24-24(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=12906855; DOI=10.1016/s0888-7543(03)00154-x;
RA Kurima K., Yang Y., Sorber K., Griffith A.J.;
RT "Characterization of the transmembrane channel-like (TMC) gene family:
RT functional clues from hearing loss and epidermodysplasia verruciformis.";
RL Genomics 82:300-308(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLU-254.
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 2).
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS TRP-59 AND
RP GLU-254.
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 [LARGE SCALE MRNA] OF 222-723 (ISOFORMS 1 AND 2), AND
RP VARIANT GLU-254.
RC TISSUE=Colon;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-89, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Probable ion channel. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z402-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z402-2; Sequence=VSP_054226;
CC -!- SIMILARITY: Belongs to the TMC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15032.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY263165; AAP78780.1; -; mRNA.
DR EMBL; AY236498; AAP69876.1; -; mRNA.
DR EMBL; AC099518; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036205; AAH36205.1; -; mRNA.
DR EMBL; BC047719; AAH47719.1; -; mRNA.
DR EMBL; CR933669; CAI45966.1; -; mRNA.
DR EMBL; AK024893; BAB15032.1; ALT_INIT; mRNA.
DR CCDS; CCDS10573.1; -. [Q7Z402-1]
DR CCDS; CCDS53992.1; -. [Q7Z402-2]
DR RefSeq; NP_001153836.1; NM_001160364.2. [Q7Z402-2]
DR RefSeq; NP_079123.3; NM_024847.4. [Q7Z402-1]
DR AlphaFoldDB; Q7Z402; -.
DR BioGRID; 122988; 19.
DR IntAct; Q7Z402; 6.
DR STRING; 9606.ENSP00000455041; -.
DR GlyGen; Q7Z402; 6 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z402; -.
DR PhosphoSitePlus; Q7Z402; -.
DR BioMuta; TMC7; -.
DR DMDM; 74713450; -.
DR EPD; Q7Z402; -.
DR jPOST; Q7Z402; -.
DR MassIVE; Q7Z402; -.
DR MaxQB; Q7Z402; -.
DR PaxDb; Q7Z402; -.
DR PeptideAtlas; Q7Z402; -.
DR PRIDE; Q7Z402; -.
DR ProteomicsDB; 17753; -.
DR ProteomicsDB; 69105; -. [Q7Z402-1]
DR Antibodypedia; 25317; 56 antibodies from 19 providers.
DR DNASU; 79905; -.
DR Ensembl; ENST00000304381.10; ENSP00000304710.5; ENSG00000170537.13. [Q7Z402-1]
DR Ensembl; ENST00000421369.3; ENSP00000397081.3; ENSG00000170537.13. [Q7Z402-2]
DR GeneID; 79905; -.
DR KEGG; hsa:79905; -.
DR MANE-Select; ENST00000304381.10; ENSP00000304710.5; NM_024847.4; NP_079123.3.
DR UCSC; uc002dfq.4; human. [Q7Z402-1]
DR CTD; 79905; -.
DR DisGeNET; 79905; -.
DR GeneCards; TMC7; -.
DR HGNC; HGNC:23000; TMC7.
DR HPA; ENSG00000170537; Tissue enhanced (brain, testis).
DR neXtProt; NX_Q7Z402; -.
DR OpenTargets; ENSG00000170537; -.
DR PharmGKB; PA134988099; -.
DR VEuPathDB; HostDB:ENSG00000170537; -.
DR eggNOG; ENOG502QPM8; Eukaryota.
DR GeneTree; ENSGT01050000244894; -.
DR HOGENOM; CLU_013958_1_0_1; -.
DR InParanoid; Q7Z402; -.
DR OMA; IMQIKAM; -.
DR OrthoDB; 1048914at2759; -.
DR PhylomeDB; Q7Z402; -.
DR TreeFam; TF313462; -.
DR PathwayCommons; Q7Z402; -.
DR SignaLink; Q7Z402; -.
DR BioGRID-ORCS; 79905; 7 hits in 1069 CRISPR screens.
DR ChiTaRS; TMC7; human.
DR GenomeRNAi; 79905; -.
DR Pharos; Q7Z402; Tdark.
DR PRO; PR:Q7Z402; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q7Z402; protein.
DR Bgee; ENSG00000170537; Expressed in C1 segment of cervical spinal cord and 120 other tissues.
DR ExpressionAtlas; Q7Z402; baseline and differential.
DR Genevisible; Q7Z402; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IEA:InterPro.
DR GO; GO:0008381; F:mechanosensitive ion channel activity; IBA:GO_Central.
DR InterPro; IPR038900; TMC.
DR InterPro; IPR012496; TMC_dom.
DR PANTHER; PTHR23302; PTHR23302; 1.
DR Pfam; PF07810; TMC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Ion channel; Ion transport; Membrane;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..723
FT /note="Transmembrane channel-like protein 7"
FT /id="PRO_0000287165"
FT TOPO_DOM 1..168
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 169..189
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 190..219
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 220..240
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 241..263
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 264..284
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 285..362
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 363..383
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 384..404
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 405..425
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 426..494
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 495..515
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 516..555
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 556..576
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 577..601
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 602..622
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 623..665
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 666..686
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 687..723
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 51..71
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 89
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CARBOHYD 24
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 84
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 96
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 259
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 638
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..110
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_054226"
FT VARIANT 59
FT /note="R -> W (in dbSNP:rs17854512)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032278"
FT VARIANT 254
FT /note="G -> E (in dbSNP:rs4072393)"
FT /evidence="ECO:0000269|PubMed:12812529,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_032279"
FT VARIANT 355
FT /note="T -> S (in dbSNP:rs55796412)"
FT /id="VAR_061852"
FT VARIANT 635
FT /note="T -> I (in dbSNP:rs11864159)"
FT /id="VAR_032280"
FT CONFLICT 18
FT /note="P -> Q (in Ref. 1; AAP78780 and 5; AAH36205)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 723 AA; 83502 MW; 1390BF6E450EDE60 CRC64;
MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL IQKLTEAQRD
MRN
