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    Timmdc1 translocase of inner mitochondrial membrane domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 76916, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Timmdc1provided by MGI
    Official Full Name
    translocase of inner mitochondrial membrane domain containing 1provided by MGI
    Primary source
    MGI:MGI:1922139
    See related
    Ensembl:ENSMUSG00000002846 AllianceGenome:MGI:1922139
    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
    2810021C21Rik; 4930455C21Rik
    Summary
    Located in mitochondrion. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 31. Orthologous to human TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 20.5), duodenum adult (RPKM 8.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Timmdc1 in Genome Data Viewer
    Location:
    16 B4; 16 26.86 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (38318205..38343075, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (38497843..38522778, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene CD80 antigen Neighboring gene predicted gene, 41453 Neighboring gene creatine kinase pseudogene 3 Neighboring gene ubiquitin-like, containing PHD and RING finger domains, 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40830 Neighboring gene predicted gene, 53953 Neighboring gene protein O-glucosyltransferase 1 Neighboring gene STARR-seq mESC enhancer starr_40832 Neighboring gene transmembrane protein 39a Neighboring gene STARR-seq mESC enhancer starr_40833

    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. Placentation defects are highly prevalent in embryonic lethal mouse mutants. Perez-Garcia V, et al. Nature, 2018 Mar 22. PMID 29539633, Free PMC Article
    2. Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome. Grose JH, et al. PLoS One, 2015. PMID 26465331, Free PMC Article
    3. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862
    4. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

    See all (24) 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)

    Pathways from PubChem

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    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    complex I assembly factor TIMMDC1, mitochondrial
    Names
    TIMM domain containing-protein 1
    translocase of inner mitochondrial membrane domain-containing protein 1
    transmembrane protein C3orf1 homolog

    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_024273.2 → NP_077235.2  complex I assembly factor TIMMDC1, mitochondrial

      See identical proteins and their annotated locations for NP_077235.2

      Status: VALIDATED

      Source sequence(s)
      AK081781, BQ175474, BX637624, BY468650, CJ056343
      Consensus CDS
      CCDS28169.1
      UniProtKB/Swiss-Prot
      Q8BUY5, Q99LS9, Q9CSI1
      Related
      ENSMUSP00000002925.6, ENSMUST00000002925.6
      Conserved Domains (1) summary
      pfam02466
      Location:74 → 203
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      38318205..38343075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522713.5 → XP_006522776.1  complex I assembly factor TIMMDC1, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam02466
      Location:81 → 174
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    2. XM_030249329.2 → XP_030105189.1  complex I assembly factor TIMMDC1, mitochondrial isoform X2

      Related
      ENSMUST00000147543.2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BUY5.1 GenPept UniProtKB/Swiss-Prot:Q8BUY5

    Gene LinkOut

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

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