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

Gene ID: 76916, updated on 2-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 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
  
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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