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Q8IU68

- TMC8_HUMAN

UniProt

Q8IU68 - TMC8_HUMAN

Protein

Transmembrane channel-like protein 8

Gene

TMC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Probable ion channel.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProt
    2. receptor binding Source: UniProt

    GO - Biological processi

    1. ion transport Source: UniProtKB-KW
    2. negative regulation of protein binding Source: UniProt
    3. negative regulation of protein oligomerization Source: UniProt
    4. regulation of cell growth Source: UniProt
    5. regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProt
    6. zinc ion homeostasis Source: UniProt

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Protein family/group databases

    TCDBi1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane channel-like protein 8
    Alternative name(s):
    Epidermodysplasia verruciformis protein 2
    Gene namesi
    Name:TMC8
    Synonyms:EVER2, EVIN2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:20474. TMC8.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProt
    2. endoplasmic reticulum Source: UniProt
    3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    4. extracellular space Source: UniProt
    5. extracellular vesicular exosome Source: UniProt
    6. Golgi apparatus Source: UniProt
    7. integral component of membrane Source: UniProtKB-KW
    8. nuclear membrane Source: UniProt

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi226400. phenotype.
    Orphaneti302. Epidermodysplasia verruciformis.
    PharmGKBiPA134892288.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 726726Transmembrane channel-like protein 8PRO_0000185386Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi148 – 1481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi567 – 5671N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8IU68.
    PRIDEiQ8IU68.

    PTM databases

    PhosphoSiteiQ8IU68.

    Expressioni

    Tissue specificityi

    Expressed in placenta, prostate and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8IU68.
    BgeeiQ8IU68.
    CleanExiHS_TMC8.
    GenevestigatoriQ8IU68.

    Organism-specific databases

    HPAiHPA054429.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000325561.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IU68.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 114114CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini136 – 20065LumenalSequence AnalysisAdd
    BLAST
    Topological domaini222 – 29978CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini321 – 33818LumenalSequence AnalysisAdd
    BLAST
    Topological domaini360 – 42667CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini448 – 48841LumenalSequence AnalysisAdd
    BLAST
    Topological domaini510 – 53122CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini553 – 59442LumenalSequence AnalysisAdd
    BLAST
    Topological domaini616 – 726111CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei201 – 22121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei300 – 32021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei339 – 35921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei427 – 44721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei489 – 50921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei532 – 55221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei595 – 61521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMC family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG70493.
    HOGENOMiHOG000038033.
    HOVERGENiHBG055908.
    InParanoidiQ8IU68.
    OMAiWCVVLKL.
    OrthoDBiEOG73FQM9.
    PhylomeDBiQ8IU68.
    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 1 (identifier: Q8IU68-1) [UniParc]FASTAAdd to Basket

    Also known as: Large EVER2

    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

    MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW    50
    QLREPAGVQT LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG 100
    LFGTGIRSYF TFLRFLLLLN LLSLLLTASF VLLPLVWLRP PDPGPTLNLT 150
    LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT NTYLFYGAYR VGPESSSVYS 200
    IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA PLSAKVFSSW 250
    DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL 300
    RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL 350
    GPLLFTFLVQ LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG 400
    RDKSSCESYG YNVCDYQCWE NSVGEELYKL SIFNFLLTVA FAFLVTLPRR 450
    LLVDRFSGRF WAWLEREEFL VPKNVLDIVA GQTVTWMGLF YCPLLPLLNS 500
    VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL GLLLAAVPLG 550
    YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS 600
    FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL 650
    PEPGPSDSPG PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG 700
    LRSPCPGQHG APASARRFRF PSGAEL 726
    Length:726
    Mass (Da):81,641
    Last modified:March 1, 2003 - v1
    Checksum:iAA3F4A01A6C315EF
    GO
    Isoform 2 (identifier: Q8IU68-2) [UniParc]FASTAAdd to Basket

    Also known as: Small EVER2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-223: Missing.

    Show »
    Length:503
    Mass (Da):56,132
    Checksum:i9466295B76B989E7
    GO

    Sequence cautioni

    The sequence BC028076 differs from that shown. Reason: Unlikely isoform. Aberrant splice sites.
    The sequence BAC03459.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51R → W in BAC03459. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061N → I.1 Publication
    Corresponds to variant rs7208422 [ dbSNP | Ensembl ].
    VAR_023964
    Natural varianti501 – 5011V → I.
    Corresponds to variant rs11651675 [ dbSNP | Ensembl ].
    VAR_052337

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 223223Missing in isoform 2. 1 PublicationVSP_016448Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY057380 mRNA. Translation: AAL25837.1.
    AY099358 mRNA. Translation: AAM44454.1.
    AY099359 mRNA. Translation: AAM44455.1.
    AY236500 mRNA. Translation: AAP69878.1.
    AK090478 mRNA. Translation: BAC03459.1. Different initiation.
    AC021593 Genomic DNA. No translation available.
    BC028076 mRNA. No translation available.
    BC110296 mRNA. Translation: AAI10297.1.
    CCDSiCCDS32749.1. [Q8IU68-1]
    RefSeqiNP_689681.2. NM_152468.4. [Q8IU68-1]
    XP_006721788.1. XM_006721725.1. [Q8IU68-2]
    UniGeneiHs.592102.

    Genome annotation databases

    EnsembliENST00000318430; ENSP00000325561; ENSG00000167895. [Q8IU68-1]
    ENST00000589691; ENSP00000467482; ENSG00000167895. [Q8IU68-2]
    GeneIDi147138.
    KEGGihsa:147138.
    UCSCiuc002jup.2. human. [Q8IU68-1]

    Polymorphism databases

    DMDMi74714272.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    TMC8base

    TMC8 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY057380 mRNA. Translation: AAL25837.1 .
    AY099358 mRNA. Translation: AAM44454.1 .
    AY099359 mRNA. Translation: AAM44455.1 .
    AY236500 mRNA. Translation: AAP69878.1 .
    AK090478 mRNA. Translation: BAC03459.1 . Different initiation.
    AC021593 Genomic DNA. No translation available.
    BC028076 mRNA. No translation available.
    BC110296 mRNA. Translation: AAI10297.1 .
    CCDSi CCDS32749.1. [Q8IU68-1 ]
    RefSeqi NP_689681.2. NM_152468.4. [Q8IU68-1 ]
    XP_006721788.1. XM_006721725.1. [Q8IU68-2 ]
    UniGenei Hs.592102.

    3D structure databases

    ProteinModelPortali Q8IU68.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000325561.

    Protein family/group databases

    TCDBi 1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

    PTM databases

    PhosphoSitei Q8IU68.

    Polymorphism databases

    DMDMi 74714272.

    Proteomic databases

    PaxDbi Q8IU68.
    PRIDEi Q8IU68.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318430 ; ENSP00000325561 ; ENSG00000167895 . [Q8IU68-1 ]
    ENST00000589691 ; ENSP00000467482 ; ENSG00000167895 . [Q8IU68-2 ]
    GeneIDi 147138.
    KEGGi hsa:147138.
    UCSCi uc002jup.2. human. [Q8IU68-1 ]

    Organism-specific databases

    CTDi 147138.
    GeneCardsi GC17P076126.
    H-InvDB HIX0173689.
    HGNCi HGNC:20474. TMC8.
    HPAi HPA054429.
    MIMi 226400. phenotype.
    605829. gene.
    neXtProti NX_Q8IU68.
    Orphaneti 302. Epidermodysplasia verruciformis.
    PharmGKBi PA134892288.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70493.
    HOGENOMi HOG000038033.
    HOVERGENi HBG055908.
    InParanoidi Q8IU68.
    OMAi WCVVLKL.
    OrthoDBi EOG73FQM9.
    PhylomeDBi Q8IU68.
    TreeFami TF313462.

    Miscellaneous databases

    ChiTaRSi TMC8. human.
    GeneWikii TMC8.
    GenomeRNAii 147138.
    NextBioi 85549.
    PROi Q8IU68.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IU68.
    Bgeei Q8IU68.
    CleanExi HS_TMC8.
    Genevestigatori Q8IU68.

    Family and domain databases

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

    Publicationsi

    1. "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis."
      Ramoz N., Rueda L.-A., Bouadjar B., Montoya L.-S., Orth G., Favre M.
      Nat. Genet. 32:579-581(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, INVOLVEMENT IN EV.
    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 1), TISSUE SPECIFICITY.
    3. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-306.
      Tissue: Spleen.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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).
      Tissue: Blood.

    Entry informationi

    Entry nameiTMC8_HUMAN
    AccessioniPrimary (citable) accession number: Q8IU68
    Secondary accession number(s): Q2YDC0
    , Q8IWU7, Q8N358, Q8NF04
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 88 of the entry and version 1 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 17
      Human chromosome 17: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3