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TMEM70 transmembrane protein 70 [ Homo sapiens (human) ]

Gene ID: 54968, updated on 8-Nov-2020

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

Genomic context

See TMEM70 in Genome Data Viewer
Location:
8q21.11
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (73976195..73982783)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (74888377..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
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial proton-transporting ATP synthase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial proton-transporting ATP synthase complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
transmembrane protein 70, mitochondrial

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_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 109.20200815

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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