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    TMEM127 transmembrane protein 127 [ Homo sapiens (human) ]

    Gene ID: 55654, updated on 17-Jun-2019

    Summary

    Official Symbol
    TMEM127provided by HGNC
    Official Full Name
    transmembrane protein 127provided by HGNC
    Primary source
    HGNC:HGNC:26038
    See related
    Ensembl:ENSG00000135956 MIM:613403
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in heart (RPKM 15.7), esophagus (RPKM 13.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See TMEM127 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (96248514..96266013, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96915946..96931751, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STARD7 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 112 Neighboring gene Sharpr-MPRA regulatory region 4718 Neighboring gene VISTA enhancer hs1919 Neighboring gene cytosolic iron-sulfur assembly component 1 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane protein 127 (TMEM127; FLJ20507) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20507, FLJ22257

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rab GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    endosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027695.1 RefSeqGene

      Range
      5001..20806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_528

    mRNA and Protein(s)

    1. NM_001193304.3NP_001180233.1  transmembrane protein 127

      See identical proteins and their annotated locations for NP_001180233.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, resulting in a shorter 5' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC012307, BC028575, DA212468
      Consensus CDS
      CCDS2018.1
      UniProtKB/Swiss-Prot
      O75204
      Related
      ENSP00000416660.1, ENST00000432959.1
      Conserved Domains (1) summary
      cl21598
      Location:38192
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
    2. NM_017849.3NP_060319.1  transmembrane protein 127

      See identical proteins and their annotated locations for NP_060319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC012307, BC039892, DA212468
      Consensus CDS
      CCDS2018.1
      UniProtKB/Swiss-Prot
      O75204
      Related
      ENSP00000258439.2, ENST00000258439.7
      Conserved Domains (1) summary
      cl21598
      Location:38192
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      96248514..96266013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004450.1XP_016859939.1  transmembrane protein 127 isoform X1

      UniProtKB/TrEMBL
      Q9H6I0
    2. XM_017004452.1XP_016859941.1  transmembrane protein 127 isoform X2

      UniProtKB/TrEMBL
      C9J4H2
      Related
      ENSP00000411810.1, ENST00000435268.1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032218.1: Suppressed sequence

      Description
      NM_032218.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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