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

    Gene ID: 70397, updated on 21-Apr-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 be involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; 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, Apr 2022]
    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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    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
    • 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. 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
    2. 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
    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 (17) 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)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (3) 

    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
    		  
    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 protein complex oligomerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial crista ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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