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    TMEM70 transmembrane protein 70 [ Homo sapiens (human) ]

    Gene ID: 54968, updated on 26-Jul-2021

    Summary

    Official Symbol
    TMEM70provided by HGNC
    Official Full Name
    transmembrane protein 70provided by HGNC
    Primary source
    HGNC:HGNC:26050
    See related
    Ensembl:ENSG00000175606 MIM:612418
    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
    Also known as
    MC5DN2
    Summary
    This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMEM70 in Genome Data Viewer
    Location:
    8q21.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (73976195..73982783)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (74888430..74895018)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glycogenin 1 pseudogene 1 Neighboring gene elongin C Neighboring gene ribosomal protein S20 pseudogene 21 Neighboring gene DSTN pseudogene 3 Neighboring gene lymphocyte antigen 96 Neighboring gene RNA, U6 small nuclear 1300, pseudogene

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20533

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in integral component of mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    transmembrane protein 70, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016618.1 RefSeqGene

      Range
      5001..11642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040613.3NP_001035703.1  transmembrane protein 70, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC002748, BF439499, BM984431, DB483583
      Consensus CDS
      CCDS47876.1
      UniProtKB/Swiss-Prot
      Q9BUB7
      Related
      ENSP00000429467.1, ENST00000517439.1
    2. NM_017866.6NP_060336.3  transmembrane protein 70, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_060336.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC002748, BM984431, DB483583
      Consensus CDS
      CCDS6215.1
      UniProtKB/Swiss-Prot
      Q9BUB7
      Related
      ENSP00000312599.5, ENST00000312184.6
      Conserved Domains (1) summary
      pfam06979
      Location:108232
      TMEM70; Assembly, mitochondrial proton-transport ATP synth complex

    RNA

    1. NR_033334.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC002748, BM984431, BU542365, DB483583

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      73976195..73982783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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