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

Gene ID: 100652748, updated on 27-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
  • 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