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Q6UXF1

- TM108_HUMAN

UniProt

Q6UXF1 - TM108_HUMAN

Protein

Transmembrane protein 108

Gene

TMEM108

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 108
    Gene namesi
    Name:TMEM108
    Synonyms:KIAA1690
    ORF Names:UNQ1875/PRO4318
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:28451. TMEM108.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670759.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 575549Transmembrane protein 108PRO_0000243913Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi178 – 1781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi223 – 2231N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi446 – 4461N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ6UXF1.
    PRIDEiQ6UXF1.

    PTM databases

    PhosphoSiteiQ6UXF1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6UXF1.
    BgeeiQ6UXF1.
    CleanExiHS_TMEM108.
    GenevestigatoriQ6UXF1.

    Interactioni

    Protein-protein interaction databases

    BioGridi122447. 3 interactions.
    IntActiQ6UXF1. 3 interactions.
    MINTiMINT-8247361.
    STRINGi9606.ENSP00000324651.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6UXF1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 468442ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini490 – 57586CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei469 – 48921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi68 – 187120Pro-richAdd
    BLAST

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG87591.
    HOGENOMiHOG000154603.
    HOVERGENiHBG094052.
    InParanoidiQ6UXF1.
    OMAiTWKPGTA.
    OrthoDBiEOG7GQXXT.
    PhylomeDBiQ6UXF1.
    TreeFamiTF336337.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6UXF1-1) [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

    MKRSLQALYC QLLSFLLILA LTEALAFAIQ EPSPRESLQV LPSGTPPGTM    50
    VTAPHSSTRH TSVVMLTPNP DGPPSQAAAP MATPTPRAEG HPPTHTISTI 100
    AATVTAPHSE SSLSTGPAPA AMATTSSKPE GRPRGQAAPT ILLTKPPGAT 150
    SRPTTAPPRT TTRRPPRPPG SSRKGAGNSS RPVPPAPGGH SRSKEGQRGR 200
    NPSSTPLGQK RPLGKIFQIY KGNFTGSVEP EPSTLTPRTP LWGYSSSPQP 250
    QTVAATTVPS NTSWAPTTTS LGPAKDKPGL RRAAQGGGST FTSQGGTPDA 300
    TAASGAPVSP QAAPVPSQRP HHGDPQDGPS HSDSWLTVTP GTSRPLSTSS 350
    GVFTAATGPT PAAFDTSVSA PSQGIPQGAS TTPQAPTHPS RVSESTISGA 400
    KEETVATLTM TDRVPSPLST VVSTATGNFL NRLVPAGTWK PGTAGNISHV 450
    AEGDKPQHRA TICLSKMDIA WVILAISVPI SSCSVLLTVC CMKRKKKTAN 500
    PENNLSYWNN TITMDYFNRH AVELPREIQS LETSEDQLSE PRSPANGDYR 550
    DTGMVLVNPF CQETLFVGND QVSEI 575
    Length:575
    Mass (Da):59,948
    Last modified:June 27, 2006 - v2
    Checksum:iED25B263837BBF33
    GO
    Isoform 2 (identifier: Q6UXF1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         485-487: VLL → DPI
         488-575: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:487
    Mass (Da):49,836
    Checksum:i270809B328B9B7C1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti108 – 1081H → Y in AAQ88747. (PubMed:12975309)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841P → L.2 Publications
    Corresponds to variant rs34111099 [ dbSNP | Ensembl ].
    VAR_051427

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei485 – 4873VLL → DPI in isoform 2. 1 PublicationVSP_019494
    Alternative sequencei488 – 57588Missing in isoform 2. 1 PublicationVSP_019495Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358381 mRNA. Translation: AAQ88747.1.
    CH471052 Genomic DNA. Translation: EAW79182.1.
    CH471052 Genomic DNA. Translation: EAW79183.1.
    CH471052 Genomic DNA. Translation: EAW79184.1.
    BC000568 mRNA. Translation: AAH00568.1.
    AB051477 mRNA. Translation: BAB21781.1.
    AL136578 mRNA. Translation: CAB66513.3.
    CCDSiCCDS33858.1. [Q6UXF1-1]
    RefSeqiNP_001129941.1. NM_001136469.2. [Q6UXF1-1]
    NP_001269794.1. NM_001282865.1.
    NP_076432.1. NM_023943.3. [Q6UXF1-1]
    XP_005247782.1. XM_005247725.2. [Q6UXF1-1]
    XP_005247783.1. XM_005247726.1. [Q6UXF1-1]
    UniGeneiHs.191616.

    Genome annotation databases

    EnsembliENST00000321871; ENSP00000324651; ENSG00000144868. [Q6UXF1-1]
    ENST00000393130; ENSP00000376838; ENSG00000144868. [Q6UXF1-1]
    GeneIDi66000.
    KEGGihsa:66000.
    UCSCiuc003eph.3. human. [Q6UXF1-1]

    Polymorphism databases

    DMDMi109895211.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358381 mRNA. Translation: AAQ88747.1 .
    CH471052 Genomic DNA. Translation: EAW79182.1 .
    CH471052 Genomic DNA. Translation: EAW79183.1 .
    CH471052 Genomic DNA. Translation: EAW79184.1 .
    BC000568 mRNA. Translation: AAH00568.1 .
    AB051477 mRNA. Translation: BAB21781.1 .
    AL136578 mRNA. Translation: CAB66513.3 .
    CCDSi CCDS33858.1. [Q6UXF1-1 ]
    RefSeqi NP_001129941.1. NM_001136469.2. [Q6UXF1-1 ]
    NP_001269794.1. NM_001282865.1.
    NP_076432.1. NM_023943.3. [Q6UXF1-1 ]
    XP_005247782.1. XM_005247725.2. [Q6UXF1-1 ]
    XP_005247783.1. XM_005247726.1. [Q6UXF1-1 ]
    UniGenei Hs.191616.

    3D structure databases

    ProteinModelPortali Q6UXF1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122447. 3 interactions.
    IntActi Q6UXF1. 3 interactions.
    MINTi MINT-8247361.
    STRINGi 9606.ENSP00000324651.

    PTM databases

    PhosphoSitei Q6UXF1.

    Polymorphism databases

    DMDMi 109895211.

    Proteomic databases

    PaxDbi Q6UXF1.
    PRIDEi Q6UXF1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321871 ; ENSP00000324651 ; ENSG00000144868 . [Q6UXF1-1 ]
    ENST00000393130 ; ENSP00000376838 ; ENSG00000144868 . [Q6UXF1-1 ]
    GeneIDi 66000.
    KEGGi hsa:66000.
    UCSCi uc003eph.3. human. [Q6UXF1-1 ]

    Organism-specific databases

    CTDi 66000.
    GeneCardsi GC03P132757.
    HGNCi HGNC:28451. TMEM108.
    neXtProti NX_Q6UXF1.
    PharmGKBi PA142670759.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87591.
    HOGENOMi HOG000154603.
    HOVERGENi HBG094052.
    InParanoidi Q6UXF1.
    OMAi TWKPGTA.
    OrthoDBi EOG7GQXXT.
    PhylomeDBi Q6UXF1.
    TreeFami TF336337.

    Miscellaneous databases

    ChiTaRSi Tmem108. human.
    GenomeRNAii 66000.
    NextBioi 67505.
    PROi Q6UXF1.

    Gene expression databases

    ArrayExpressi Q6UXF1.
    Bgeei Q6UXF1.
    CleanExi HS_TMEM108.
    Genevestigatori Q6UXF1.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-84.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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: Brain.
    4. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-575 (ISOFORM 2), VARIANT LEU-84.
      Tissue: Brain.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 113-575 (ISOFORM 1).
      Tissue: Amygdala.

    Entry informationi

    Entry nameiTM108_HUMAN
    AccessioniPrimary (citable) accession number: Q6UXF1
    Secondary accession number(s): D3DNC9
    , Q9BQH1, Q9BW81, Q9C0H3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 74 of the entry and version 2 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 3
      Human chromosome 3: 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

    External Data

    Dasty 3