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

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: all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NOX4-TIM23 interaction regulates NOX4 mitochondrial import and metabolic reprogramming.
Title: NOX4-TIM23 interaction regulates NOX4 mitochondrial import and metabolic reprogramming.
From TOM to the TIM23 complex - handing over of a precursor.
Title: From TOM to the TIM23 complex - handing over of a precursor.
Mitochondrial Oxidative Stress Induces Rapid Intermembrane Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1 Protein through TIM23 Complex.
Title: Mitochondrial Oxidative Stress Induces Rapid Intermembrane Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1 Protein through TIM23 Complex.
mutant HTT specifically binds to the TIM23 subunit and that full-length wild-type huntingtin (wtHTT) and mHTT reside in the mitochondrial intermembrane space.
Title: Mutant huntingtin disrupts mitochondrial proteostasis by interacting with TIM23.
Data indicate the essential role of the GABP transcription factor in activating translocase of inner mitochondrial membrane 23 TIMM23 and TIMM23B expression.
Title: Expression of the human TIMM23 and TIMM23B genes is regulated by the GABP transcription factor.
The interaction of presequence peptides with Tim23 intermembrane space domain is weakened in presence of Ca2+ ion, which implicates that Ca2+ ion may play an important role in the protein import by TIM23 complex.
Title: Interaction of divalent metal ions with human translocase of inner membrane of mitochondria Tim23.
Modulating the sorting of nuclear-encoded proteins into mitochondria, mediated by the TIM23 complex, proves therapeutic in both yeast and patient-derived cells exhibiting ATP synthase deficiency.
Title: Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders.
Three distinct Tim23 complexes, namely, B1, B2, and A, are involved in the maintenance of normal mitochondrial function.
Title: Unraveling the intricate organization of mammalian mitochondrial presequence translocases: existence of multiple translocases for maintenance of mitochondrial function.
GST pull-down experiments and tryptophan fluorescence indicated that there is no interaction between Tim23IMS and Tim50IMS
Title: Interaction of presequence peptides with human translocase of inner membrane of mitochondria Tim23.
MCJ functions as J co-chaperone of the human TIM23 pre-protein translocase.
Title: Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

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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Markers

RH1575 (e-PCR)
- UniSTS:32266

TIMM23_9108 (e-PCR)
- UniSTS:468750

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

D1S3475 (e-PCR)
- UniSTS:61391

SHGC-37191 (e-PCR)
- UniSTS:15079

D11S3316 (e-PCR)
- UniSTS:152558

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

Component	Evidence Code	Pubs
part_of TIM23 mitochondrial import inner membrane translocase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM23 mitochondrial import inner membrane translocase complex	IDA Inferred from Direct Assay more info	PubMed
part_of TIM23 mitochondrial import inner membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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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)

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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.

Genomic

NG_032850.2 RefSeqGene

Range

5037..36290

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006327.4 → NP_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:46 → 191

3a0801s02tim23; mitochondrial import inner membrane translocase subunit tim23

RNA

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
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