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Q969K7

- TMM54_HUMAN

UniProt

Q969K7 - TMM54_HUMAN

Protein

Transmembrane protein 54

Gene

TMEM54

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 54
    Alternative name(s):
    Beta-casein-like protein
    Protein CAC-1
    Gene namesi
    Name:TMEM54
    Synonyms:BCLP, CAC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:24143. TMEM54.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670770.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 222222Transmembrane protein 54PRO_0000226989Add
    BLAST

    Proteomic databases

    PaxDbiQ969K7.
    PRIDEiQ969K7.

    PTM databases

    PhosphoSiteiQ969K7.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in cancer cell lines.1 Publication

    Gene expression databases

    BgeeiQ969K7.
    CleanExiHS_TMEM54.
    GenevestigatoriQ969K7.

    Interactioni

    Protein-protein interaction databases

    BioGridi125247. 6 interactions.
    IntActiQ969K7. 3 interactions.
    MINTiMINT-7969274.
    STRINGi9606.ENSP00000362562.

    Structurei

    3D structure databases

    ProteinModelPortaliQ969K7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei62 – 8221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei155 – 17521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM54 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41884.
    HOGENOMiHOG000231088.
    HOVERGENiHBG098567.
    InParanoidiQ969K7.
    OMAiWGKSSHH.
    OrthoDBiEOG7288SM.
    PhylomeDBiQ969K7.
    TreeFamiTF332771.

    Family and domain databases

    InterProiIPR020977. Beta-casein-like.
    [Graphical view]
    PfamiPF12304. BCLP. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q969K7-1) [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

    MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ    50
    DAVALQYCVV NILSVTSAIV VITSGIAAIV LSRYLPSTPL RWTVFSSSVA 100
    CALLSLTCAL GLLASIAMTF ATQGKALLAA CTFGSSELLA LAPDCPFDPT 150
    RIYSSSLCLW GIALVLCVAE NVFAVRCAQL THQLLELRPW WGKSSHHMMR 200
    ENPELVEGRD LLSCTSSEPL TL 222
    Length:222
    Mass (Da):23,772
    Last modified:December 1, 2001 - v1
    Checksum:iBD6361E5AFD816C0
    GO
    Isoform 2 (identifier: Q969K7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-90: Missing.

    Show »
    Length:202
    Mass (Da):21,719
    Checksum:iDC8F68B9E5ACED42
    GO
    Isoform 3 (identifier: Q969K7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-123: Missing.

    Show »
    Length:169
    Mass (Da):18,303
    Checksum:i6C47BA8F0618B7EA
    GO

    Sequence cautioni

    The sequence BAA87335.1 differs from that shown. Reason: Frameshift at positions 106, 165, 168 and 222.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1441D → Y in BAA87335. (PubMed:9500206)Curated
    Sequence conflicti172 – 1721V → G in BAA87335. (PubMed:9500206)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti110 – 1101L → F.
    Corresponds to variant rs10914632 [ dbSNP | Ensembl ].
    VAR_052342

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei71 – 12353Missing in isoform 3. 1 PublicationVSP_017533Add
    BLAST
    Alternative sequencei71 – 9020Missing in isoform 2. 1 PublicationVSP_017532Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY027543 mRNA. Translation: AAK13050.1.
    AY359883 mRNA. Translation: AAQ64021.1.
    BC001418 mRNA. Translation: AAH01418.2.
    BC013953 mRNA. Translation: AAH13953.1.
    BC023260 mRNA. Translation: AAH23260.1.
    AB012692 mRNA. Translation: BAA87335.1. Frameshift.
    CCDSiCCDS371.1. [Q969K7-1]
    PIRiJC7697.
    RefSeqiNP_277039.1. NM_033504.2. [Q969K7-1]
    UniGeneiHs.534521.

    Genome annotation databases

    EnsembliENST00000329151; ENSP00000328630; ENSG00000121900. [Q969K7-3]
    ENST00000373463; ENSP00000362562; ENSG00000121900. [Q969K7-1]
    GeneIDi113452.
    KEGGihsa:113452.
    UCSCiuc001bwi.1. human. [Q969K7-1]
    uc001bwj.1. human. [Q969K7-3]
    uc001bwk.1. human. [Q969K7-2]

    Polymorphism databases

    DMDMi74760680.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY027543 mRNA. Translation: AAK13050.1 .
    AY359883 mRNA. Translation: AAQ64021.1 .
    BC001418 mRNA. Translation: AAH01418.2 .
    BC013953 mRNA. Translation: AAH13953.1 .
    BC023260 mRNA. Translation: AAH23260.1 .
    AB012692 mRNA. Translation: BAA87335.1 . Frameshift.
    CCDSi CCDS371.1. [Q969K7-1 ]
    PIRi JC7697.
    RefSeqi NP_277039.1. NM_033504.2. [Q969K7-1 ]
    UniGenei Hs.534521.

    3D structure databases

    ProteinModelPortali Q969K7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125247. 6 interactions.
    IntActi Q969K7. 3 interactions.
    MINTi MINT-7969274.
    STRINGi 9606.ENSP00000362562.

    PTM databases

    PhosphoSitei Q969K7.

    Polymorphism databases

    DMDMi 74760680.

    Proteomic databases

    PaxDbi Q969K7.
    PRIDEi Q969K7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329151 ; ENSP00000328630 ; ENSG00000121900 . [Q969K7-3 ]
    ENST00000373463 ; ENSP00000362562 ; ENSG00000121900 . [Q969K7-1 ]
    GeneIDi 113452.
    KEGGi hsa:113452.
    UCSCi uc001bwi.1. human. [Q969K7-1 ]
    uc001bwj.1. human. [Q969K7-3 ]
    uc001bwk.1. human. [Q969K7-2 ]

    Organism-specific databases

    CTDi 113452.
    GeneCardsi GC01M033360.
    HGNCi HGNC:24143. TMEM54.
    neXtProti NX_Q969K7.
    PharmGKBi PA142670770.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41884.
    HOGENOMi HOG000231088.
    HOVERGENi HBG098567.
    InParanoidi Q969K7.
    OMAi WGKSSHH.
    OrthoDBi EOG7288SM.
    PhylomeDBi Q969K7.
    TreeFami TF332771.

    Miscellaneous databases

    ChiTaRSi TMEM54. human.
    GenomeRNAii 113452.
    NextBioi 78844.
    PROi Q969K7.

    Gene expression databases

    Bgeei Q969K7.
    CleanExi HS_TMEM54.
    Genevestigatori Q969K7.

    Family and domain databases

    InterProi IPR020977. Beta-casein-like.
    [Graphical view ]
    Pfami PF12304. BCLP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a tumor-associated antigen, beta-casein-like protein."
      Baba T., Koizumi M., Suzuki T., Yamanaka I., Yamashita S., Kudo R.
      Biochem. Biophys. Res. Commun. 284:340-345(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. Li H., Huang F., Yu R., Zhou G., Ke R., Shen C., Zhong G., Lin L., Yang S.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    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] (ISOFORMS 1 AND 3).
      Tissue: Brain, Colon and Ovary.
    4. "Cloning and characterization of a cDNA fragment coding beta-casein-like protein preferentially expressed in cervical adenocarcinoma cell line CAC-1."
      Suzuki T., Koizumi M., Baba T., Kudo R.
      Cancer Lett. 124:165-171(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 74-222.

    Entry informationi

    Entry nameiTMM54_HUMAN
    AccessioniPrimary (citable) accession number: Q969K7
    Secondary accession number(s): Q6UV18, Q8IVD0, Q9UM12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 90 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 1
      Human chromosome 1: 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