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    TIMM23B translocase of inner mitochondrial membrane 23 homolog B [ Homo sapiens (human) ]

    Gene ID: 100652748, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TIMM23Bprovided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 23 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:23581
    See related
    Ensembl:ENSG00000204152 MIM:620758; AllianceGenome:HGNC:23581
    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
    Summary
    Predicted to enable protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.8), bone marrow (RPKM 3.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TIMM23B in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49942053..49974850)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50791695..50824486)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51371399..51734610)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 89 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:51038955-51039720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:51039721-51040484 Neighboring gene Sharpr-MPRA regulatory region 10647 Neighboring gene poly(ADP-ribose) glycohydrolase Neighboring gene ribosomal protein L35a pseudogene 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:51133929-51134429 Neighboring gene TIMM23B-AGAP6 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3355 Neighboring gene small nucleolar RNA, H/ACA box 74C-2 Neighboring gene RNA, 5S ribosomal pseudogene 317 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The TIM17.23 preprotein translocase of mitochondria: composition and function in protein transport into the matrix. Moro F, et al. EMBO J, 1999 Jul 1. PMID 10393182, Free PMC Article
    2. Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes. Yamamoto H, et al. Cell, 2002 Nov 15. PMID 12437925
    3. Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death. Guo Y, et al. J Biol Chem, 2004 Jun 4. PMID 15044455
    4. Genetic and structural characterization of the human mitochondrial inner membrane translocase. Bauer MF, et al. J Mol Biol, 1999 May 28. PMID 10339406
    5. Identification of proteins interacting with the mitochondrial small heat shock protein Hsp22 of Drosophila melanogaster: Implication in mitochondrial homeostasis. Dabbaghizadeh A, et al. PLoS One, 2018. PMID 29509794, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Readthrough TIMM23B-AGAP6

    Readthrough gene: TIMM23B-AGAP6, Included gene: AGAP6

    Homology

    Clone Names

    • FLJ40725, FLJ56773, FLJ57933, FLJ60010, FLJ79448, MGC22767

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of TIM23 mitochondrial import inner membrane translocase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim23B
    Names
    putative mitochondrial import inner membrane translocase subunit Tim23B

    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_001290117.2 → NP_001277046.1  mitochondrial import inner membrane translocase subunit Tim23B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK098044, AK293228, AL542628, BU620107, BU928648, DC419977
      Consensus CDS
      CCDS73131.1
      UniProtKB/Swiss-Prot
      B4DDK6, E7EP42, Q5SRD1, Q5SRD2
      UniProtKB/TrEMBL
      B4DI18
      Related
      ENSP00000502369.1, ENST00000651259.3
      Conserved Domains (1) summary
      cl02381
      Location:46 → 171
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    2. NM_001290118.2 → NP_001277047.1  mitochondrial import inner membrane translocase subunit Tim23B isoform 2

      See identical proteins and their annotated locations for NP_001277047.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons in the coding region, compared to variant 1, which results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK098044, AK293228, BU620107, BU928648, DA019889, DC419977
      Consensus CDS
      CCDS76301.1
      UniProtKB/TrEMBL
      B4DDK6
      Related
      ENSP00000502146.1, ENST00000652716.1
      Conserved Domains (1) summary
      cl02381
      Location:46 → 123
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    3. NM_001365871.1 → NP_001352800.1  mitochondrial import inner membrane translocase subunit Tim23B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL442003, FO393433, FP565721
      Conserved Domains (1) summary
      cl02381
      Location:1 → 87
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    RNA

    1. NR_110767.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK098044, AK293228, AL542628, BU620107, BU928648, DC419977
      Related
      ENST00000478381.5

    2. NR_158651.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL442003, FO393433, FP565721

    3. NR_158652.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL442003, FO393433, FP565721

    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
      49942053..49974850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50791695..50824486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_135475.1: Suppressed sequence

      Description
      NR_135475.1: This RefSeq has been removed because it is thought to be partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SRD1.3 GenPept UniProtKB/Swiss-Prot:Q5SRD1

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials