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    TIMM23 translocase of inner mitochondrial membrane 23 [ Homo sapiens (human) ]

    Gene ID: 100287932, updated on 3-Nov-2024

    Summary

    Official Symbol
    TIMM23provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 23provided by HGNC
    Primary source
    HGNC:HGNC:17312
    See related
    Ensembl:ENSG00000265354 MIM:605034; AllianceGenome:HGNC:17312
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIM23
    Summary
    The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in testis (RPKM 39.1), heart (RPKM 22.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TIMM23 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (45972489..46003742)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46853373..46884627)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51592080..51623350, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene PARGP1-AGAP4 readthrough Neighboring gene RNA, 5S ribosomal pseudogene 310 Neighboring gene PARG pseudogene 1 Neighboring gene ribosomal protein L35a pseudogene 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:51370889-51371579 Neighboring gene small nucleolar RNA, H/ACA box 74C-1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:51396871-51397413 Neighboring gene Sharpr-MPRA regulatory region 10440 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:51574030-51574225 Neighboring gene Sharpr-MPRA regulatory region 5969 Neighboring gene nuclear receptor coactivator 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3324 Neighboring gene uncharacterized LOC105378287 Neighboring gene microseminoprotein beta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40725, FLJ56773, FLJ57459, FLJ79448, MGC71995, MGC87383

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in type 2 mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim23
    Names
    translocase of inner mitochondrial membrane 23 homolog
    translocase of the inner mitochondrial membrane

    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.

    Genomic

    1. NG_032850.2 RefSeqGene

      Range
      5037..36290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006327.4NP_006318.1  mitochondrial import inner membrane translocase subunit Tim23

      See identical proteins and their annotated locations for NP_006318.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the protein-coding transcript.
      Source sequence(s)
      BC062707, BC066951, BU619060
      Consensus CDS
      CCDS73091.1
      UniProtKB/Swiss-Prot
      O14925, Q53FF8, Q5T1E6, Q6P5S5
      UniProtKB/TrEMBL
      B4DI18
      Related
      ENSP00000464522.3, ENST00000580018.4
      Conserved Domains (1) summary
      TIGR00983
      Location:46191
      3a0801s02tim23; mitochondrial import inner membrane translocase subunit tim23

    RNA

    1. NR_073029.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1 and represents the longest transcript. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC062707, BU619060, CD514420
    2. NR_073030.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC062707, BU619060, BY799488

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      45972489..46003742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      46853373..46884627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)