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Q7Z5M5

- TMC3_HUMAN

UniProt

Q7Z5M5 - TMC3_HUMAN

Protein

Transmembrane channel-like protein 3

Gene

TMC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 3 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    Probable ion channel.By similarity

    GO - Biological processi

    1. ion transport Source: UniProtKB-KW

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane channel-like protein 3
    Gene namesi
    Name:TMC3Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:22995. TMC3.

    Subcellular locationi

    Membrane Sequence Analysis; Multi-pass membrane protein Sequence Analysis

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11001100Transmembrane channel-like protein 3PRO_0000259602Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ7Z5M5.
    PRIDEiQ7Z5M5.

    PTM databases

    PhosphoSiteiQ7Z5M5.

    Expressioni

    Gene expression databases

    CleanExiHS_TMC3.
    GenevestigatoriQ7Z5M5.

    Organism-specific databases

    HPAiHPA040265.
    HPA040510.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000352413.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z5M5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 148148CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini170 – 19223ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini214 – 22512CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini247 – 31973ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini341 – 36121CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini383 – 39311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini415 – 50894CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini530 – 56940ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini591 – 61828CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini640 – 67940ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini701 – 1100400CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei149 – 16921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei193 – 21321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei226 – 24621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei320 – 34021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei362 – 38221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei394 – 41421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei509 – 52921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei570 – 59021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei619 – 63921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei680 – 70021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMC family.Sequence Analysis

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG78939.
    HOGENOMiHOG000168231.
    HOVERGENiHBG036209.
    InParanoidiQ7Z5M5.
    PhylomeDBiQ7Z5M5.
    TreeFamiTF313462.

    Family and domain databases

    InterProiIPR012496. TMC.
    [Graphical view]
    PfamiPF07810. TMC. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q7Z5M5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKTSKASQRY RGIRRNASQC YLYQESLLLS NLDDSFSADE TGDSNDPEQI     50
    FQNIQFQKDL MANIRCRPWT MGQKLRALRQ AKNIVLKFEG RLTRTRGYQA 100
    AGAELWRKFA RLACNFVVIF IPWEMRIKKI ESHFGSGVAS YFIFLRWLFG 150
    INIVLTIMTG AFIVIPELIA GQPFGSTARK TIPKEQVSSA QDLDTVWSLG 200
    GYLQYSVLFY GYYGRERKIG RAGYRLPLAY FLVGMAVFAY SFIILLKKMA 250
    KNSRTSLASA SNENYTFCWR VFCAWDYLIG NPEAAESKTA AIVNSIREAI 300
    LEEQEKKKSK NLAVTICLRI IANILVLLSL AGSIYLIYFV VDRSQKLEQS 350
    KKELTLWEKN EVSVVVSLVT MIAPSAFDLI AALEMYHPRT TLRFQLARVL 400
    VLYLGNLYSL IIALLDKVNS MSIEEMATKN NTSHWIDSTT FFATRTAPEE 450
    EKWSTSRPGM GLRRNNTWAL EETSISAYTM PLIKANKTSL HTQSPQDQCW 500
    ETYVGQEMLK LSIIDMLFTV ASILLIDFFR GLFVRYLSDY WCWDLESKFP 550
    EYGEFKIAEN VLHLVYNQGM IWMGAFFSPC LPAFNVLKLI GLMYLRSWAV 600
    LTCNVPHQQV FRASRSNNFY LAMLLFMLFL CMLPTIFAIV RYKPSLNCGP 650
    FSGQEKIYDI VSETIEKDFP VWFGSVVGHI SSPVVILPAV LLLFMLIYYL 700
    QSIARSLKLS NHQLKMQIQN ARSEDKKKVA QMVEARIQTQ EESTKKLPND 750
    SDLTSQLSSA HSGTPQNNGN VAHFDSGSSK SGRIETVAQS MPQSPRPGDR 800
    APSSPLPGVP KSRLEHETNR YLHGLCASTS DLHRNRSRTP MTFTTHIEDV 850
    HSEPLFRKDF QQINPPHRGP QASTLLAQGP RPHAPRYYVI NECDSYKKKH 900
    LNVWPERHFK IDASGDIVEL YPRNVRQYAS RVPRQPPSPQ LSEEEEETPS 950
    RDWIKRSLPP RSLIDLRRAP HFYIGERSES QTRDPEHQGR VHYKSWNEDF 1000
    EGHLERPAYV PRKPRSRNFQ YPQPPLKPRG KPRFEPSLTE SDSVSAASSS 1050
    DQQNSSADQY LQVTHSQGRF PRSVGQPSRR KAKSGQELTV DLDDLICSDV 1100
    Length:1,100
    Mass (Da):125,685
    Last modified:March 8, 2011 - v3
    Checksum:i727B3B1B766FF6EA
    GO
    Isoform 21 Publication (identifier: Q7Z5M5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         722-724: RSE → SIS
         725-1100: Missing.

    Show »
    Length:724
    Mass (Da):82,867
    Checksum:i3762EBE6905D678E
    GO

    Sequence cautioni

    The sequence AAP78778.1 differs from that shown. Reason: Contaminating sequence. Due to an insert of 27 undefined residues.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti30 – 301Missing in AAP78778. (PubMed:12812529)Curated
    Sequence conflicti168 – 1681L → V in AAP78778. (PubMed:12812529)Curated
    Sequence conflicti248 – 2481K → R in AAP78778. (PubMed:12812529)Curated
    Sequence conflicti734 – 7341E → EGK in AAP78778. (PubMed:12812529)Curated
    Sequence conflicti735 – 7351A → AA in AAP78778. (PubMed:12812529)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti196 – 1961V → I.
    Corresponds to variant rs7497202 [ dbSNP | Ensembl ].
    VAR_066557
    Natural varianti893 – 8931C → Y.1 Publication
    Corresponds to variant rs11636318 [ dbSNP | Ensembl ].
    VAR_066558
    Natural varianti1012 – 10121R → K.1 Publication
    Corresponds to variant rs8031046 [ dbSNP | Ensembl ].
    VAR_066559
    Natural varianti1099 – 10991D → N.1 Publication
    Corresponds to variant rs4417518 [ dbSNP | Ensembl ].
    VAR_066560

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei722 – 7243RSE → SIS in isoform 2. 1 PublicationVSP_052201
    Alternative sequencei725 – 1100376Missing in isoform 2. 1 PublicationVSP_052202Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY263163 mRNA. Translation: AAP78778.1. Sequence problems.
    AY236490 mRNA. Translation: AAP69868.1.
    AC103858 Genomic DNA. No translation available.
    BC132679 mRNA. Translation: AAI32680.1.
    BC143410 mRNA. Translation: AAI43411.1.
    BC157874 mRNA. Translation: AAI57875.1.
    CCDSiCCDS45324.1. [Q7Z5M5-1]
    RefSeqiNP_001074001.1. NM_001080532.1. [Q7Z5M5-1]
    UniGeneiHs.253489.

    Genome annotation databases

    EnsembliENST00000359440; ENSP00000352413; ENSG00000188869. [Q7Z5M5-1]
    GeneIDi342125.
    KEGGihsa:342125.
    UCSCiuc002bgp.3. human. [Q7Z5M5-2]
    uc021ssj.1. human. [Q7Z5M5-1]

    Polymorphism databases

    DMDMi325511376.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY263163 mRNA. Translation: AAP78778.1 . Sequence problems.
    AY236490 mRNA. Translation: AAP69868.1 .
    AC103858 Genomic DNA. No translation available.
    BC132679 mRNA. Translation: AAI32680.1 .
    BC143410 mRNA. Translation: AAI43411.1 .
    BC157874 mRNA. Translation: AAI57875.1 .
    CCDSi CCDS45324.1. [Q7Z5M5-1 ]
    RefSeqi NP_001074001.1. NM_001080532.1. [Q7Z5M5-1 ]
    UniGenei Hs.253489.

    3D structure databases

    ProteinModelPortali Q7Z5M5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000352413.

    PTM databases

    PhosphoSitei Q7Z5M5.

    Polymorphism databases

    DMDMi 325511376.

    Proteomic databases

    PaxDbi Q7Z5M5.
    PRIDEi Q7Z5M5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359440 ; ENSP00000352413 ; ENSG00000188869 . [Q7Z5M5-1 ]
    GeneIDi 342125.
    KEGGi hsa:342125.
    UCSCi uc002bgp.3. human. [Q7Z5M5-2 ]
    uc021ssj.1. human. [Q7Z5M5-1 ]

    Organism-specific databases

    CTDi 342125.
    GeneCardsi GC15M081624.
    H-InvDB HIX0202197.
    HGNCi HGNC:22995. TMC3.
    HPAi HPA040265.
    HPA040510.
    neXtProti NX_Q7Z5M5.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78939.
    HOGENOMi HOG000168231.
    HOVERGENi HBG036209.
    InParanoidi Q7Z5M5.
    PhylomeDBi Q7Z5M5.
    TreeFami TF313462.

    Miscellaneous databases

    GenomeRNAii 342125.
    NextBioi 98231.
    PROi Q7Z5M5.

    Gene expression databases

    CleanExi HS_TMC3.
    Genevestigatori Q7Z5M5.

    Family and domain databases

    InterProi IPR012496. TMC.
    [Graphical view ]
    Pfami PF07810. TMC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins."
      Keresztes G., Mutai H., Heller S.
      BMC Genomics 4:24-24(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis."
      Kurima K., Yang Y., Sorber K., Griffith A.J.
      Genomics 82:300-308(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS TYR-893; LYS-1012 AND ASN-1099.
      Tissue: Heart and Lung.

    Entry informationi

    Entry nameiTMC3_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z5M5
    Secondary accession number(s): A2RTY2, B2RXJ3, Q7Z405
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 72 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3