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Tmem70 transmembrane protein 70 [ Mus musculus (house mouse) ]

Gene ID: 70397, updated on 2-Nov-2024

Summary

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Official Symbol
Tmem70provided by MGI
Official Full Name
transmembrane protein 70provided by MGI
Primary source
MGI:MGI:1915068
See related
Ensembl:ENSMUSG00000025940 AllianceGenome:MGI:1915068
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110020A09Rik; 2210416J16Rik
Summary
Predicted to enable mitochondrial proton-transporting ATP synthase complex binding activity. Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. Is expressed in several structures, including brain; gut; nasal cavity epithelium; orbito-sphenoid; and urinary system. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 2. Orthologous to human TMEM70 (transmembrane protein 70). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 32.2), heart adult (RPKM 19.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Tmem70 in Genome Data Viewer
Location:
1 A3; 1 5.1 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (16735415..16748501)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (16665191..16678275)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA D030040B21 gene Neighboring gene STARR-positive B cell enhancer ABC_E11065 Neighboring gene isopentenyl-diphosphate delta isomerase, pseudogene 5 Neighboring gene STARR-seq mESC enhancer starr_00340 Neighboring gene STARR-seq mESC enhancer starr_00341 Neighboring gene STARR-positive B cell enhancer ABC_E5744 Neighboring gene lymphocyte antigen 96 Neighboring gene STARR-seq mESC enhancer starr_00342 Neighboring gene STARR-seq mESC enhancer starr_00343 Neighboring gene STARR-positive B cell enhancer ABC_E8769 Neighboring gene TOX high mobility group box family member 4 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme. Kovalčíkova J, et al. FASEB J, 2019 Dec. PMID 31652072
  2. Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Vrbacký M, et al. Hum Mol Genet, 2016 Nov 1. PMID 28173120
  3. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Targeted (5)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables mitochondrial proton-transporting ATP synthase complex binding ISO
Inferred from Sequence Orthology
more info
  
enables mitochondrial proton-transporting ATP synthase complex binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in mitochondrial proton-transporting ATP synthase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial proton-transporting ATP synthase complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial proton-transporting ATP synthase complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrial proton-transporting ATP synthase complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein complex oligomerization ISO
Inferred from Sequence Orthology
more info
  
involved_in protein complex oligomerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in mitochondrial crista ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial membrane ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
transmembrane protein 70, mitochondrial

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_026392.1 → NP_080668.1  transmembrane protein 70, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_080668.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is longer but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK003839, AK167069, BB860431, W91102
    Consensus CDS
    CCDS35518.1
    UniProtKB/TrEMBL
    A0A0R4J272
    Related
    ENSMUSP00000135483.2, ENSMUST00000177501.2
    Conserved Domains (1) summary
    pfam06979
    Location:105 → 227
    TMEM70; Assembly, mitochondrial proton-transport ATP synth complex

  2. NM_027415.2 → NP_081691.2  transmembrane protein 70, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_081691.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
    Source sequence(s)
    AK003839, W91102
    Consensus CDS
    CCDS56623.1
    UniProtKB/Swiss-Prot
    Q3TKB6, Q3UAP8, Q921N7, Q9CQY4, Q9D7R8
    Related
    ENSMUSP00000070497.6, ENSMUST00000065373.6
    Conserved Domains (1) summary
    pfam06979
    Location:104 → 226
    TMEM70; Assembly, mitochondrial proton-transport ATP synth complex

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    16735415..16748501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153613.1 → XP_036009506.1  transmembrane protein 70, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam06979
    Location:65 → 196
    TMEM70; Assembly, mitochondrial proton-transport ATP synth complex
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q921N7.2 GenPept UniProtKB/Swiss-Prot:Q921N7

Gene LinkOut

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