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    TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 51300, updated on 8-Jul-2021

    Summary

    Official Symbol
    TIMMDC1provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:1321
    See related
    Ensembl:ENSG00000113845 MIM:615534
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf1; MC1DN31
    Expression
    Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TIMMDC1 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (119498525..119525090)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119217394..119243937)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 39A Neighboring gene protein O-glucosyltransferase 1 Neighboring gene CD80 molecule Neighboring gene cysteine and glycine rich protein 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12076

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    GeneReviews: Not available
    Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
    GeneReviews: Not available
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    GeneReviews: Not available
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    GeneReviews: Not available
    Mitochondrial complex 1 deficiency, nuclear type 31
    MedGen: C4748838 OMIM: 618251 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    complex I assembly factor TIMMDC1, mitochondrial
    Names
    M5-14 protein
    TIMM domain containing-protein 1
    translocase of inner mitochondrial membrane domain-containing protein 1
    transmembrane protein C3orf1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016589.4NP_057673.2  complex I assembly factor TIMMDC1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_057673.2

      Status: VALIDATED

      Source sequence(s)
      AC073352, AF139077, BG705703, CB105366
      Consensus CDS
      CCDS33831.1
      UniProtKB/Swiss-Prot
      Q9NPL8
      Related
      ENSP00000418803.1, ENST00000494664.6
      Conserved Domains (1) summary
      pfam02466
      Location:77199
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      119498525..119525090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006556.1XP_016862045.1  complex I assembly factor TIMMDC1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      C9JU35
      Related
      ENSP00000419510.1, ENST00000493694.1
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