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] See more...

Aliases for TIMM23 Gene

Aliases for TIMM23 Gene

  • Translocase Of Inner Mitochondrial Membrane 23 2 3 5
  • TIM23 2 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim23 3 4
  • Translocase Of Inner Mitochondrial Membrane 23 Homolog (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 23 Homolog 3
  • Translocase Of The Inner Mitochondrial Membrane 3
  • TIMM23 5

External Ids for TIMM23 Gene

Previous GeneCards Identifiers for TIMM23 Gene

  • GC10M050145
  • GC10M050460
  • GC10M051484
  • GC10M050937
  • GC10M050936
  • GC10M051262
  • GC10M051591
  • GC10M045699

Summaries for TIMM23 Gene

Entrez Gene Summary for TIMM23 Gene

  • 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]

GeneCards Summary for TIMM23 Gene

TIMM23 (Translocase Of Inner Mitochondrial Membrane 23) is a Protein Coding gene. Diseases associated with TIMM23 include Mohr-Tranebjaerg Syndrome and 3-Methylglutaconic Aciduria, Type V. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include P-P-bond-hydrolysis-driven protein transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary for TIMM23 Gene

  • Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

Additional gene information for TIMM23 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM23 Gene

Genomics for TIMM23 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TIMM23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J045970 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 600.7 +0.0 48 4.2 E4F1 BHLHE40 HSALNG0077912 PARGP1 PARGP1-AGAP4 NONHSAG005889.2 TIMM23 AGAP4 AGAP7P piR-39626-001 NCOA4
GH10J046000 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.7 +29.6 29631 3.8 GATAD2A RFX1 LEF1 IKZF1 RCOR2 POLR2A JUND DDX20 MTA2 PKNOX1 NONHSAG005888.2 piR-38595 piR-38886 AGAP7P AGAP4 TIMM23 NCOA4
GH10J046091 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 5.7 +122.3 122312 7.3 HNRNPL GATAD2A TFE3 ZIC2 PKNOX1 RXRB IRF2 IKZF2 GABPA ZNF311 MSMB NCOA4 AGAP7P PARGP1 WASHC2C BMS1P1 SHLD2P1 TIMM23 piR-43107-037 piR-57455
GH10J046012 Enhancer 0.4 dbSUPER 7.5 +40.6 40638 0.9 RBFOX2 RBM22 PML AGAP7P AGAP4 MSMB TIMM23 MN309082 piR-40844-001 NCOA4
GH10J046017 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +49.4 49383 8.4 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 RFX1 LEF1 SOX13 NCOA4 AGAP4 AGAP7P MSMB PARGP1 ENSG00000229227 piR-40844-001 TIMM23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM23 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM23

Top Transcription factor binding sites by QIAGEN in the TIMM23 gene promoter:
  • AhR
  • Cart-1
  • FAC1
  • FOXC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-2
  • Pax-2a
  • SRY
  • YY1

Genomic Locations for TIMM23 Gene

Genomic Locations for TIMM23 Gene
chr10:45,972,453-46,003,742
(GRCh38/hg38)
Size:
31,290 bases
Orientation:
Plus strand
chr10:51,592,080-51,623,365
(GRCh37/hg19)
Size:
31,286 bases
Orientation:
Minus strand

Genomic View for TIMM23 Gene

Genes around TIMM23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM23 Gene

Proteins for TIMM23 Gene

  • Protein details for TIMM23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14925-TIM23_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim23
    Protein Accession:
    O14925
    Secondary Accessions:
    • Q53FF8
    • Q5T1E6
    • Q6P5S5

    Protein attributes for TIMM23 Gene

    Size:
    209 amino acids
    Molecular mass:
    21943 Da
    Quaternary structure:
    • Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50; within this complex, directly interacts with TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15.

neXtProt entry for TIMM23 Gene

Post-translational modifications for TIMM23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TIMM23 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM23 Gene

Domains & Families for TIMM23 Gene

Gene Families for TIMM23 Gene

Protein Domains for TIMM23 Gene

InterPro:
Blocks:
  • Mitochondrial import inner membrane translocase, subunit Tim17/22
ProtoNet:

Suggested Antigen Peptide Sequences for TIMM23 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57459, highly similar to Mitochondrial import inner membrane translocase subunit Tim23 (B1APJ0_HUMAN)
  • Translocase of inner mitochondrial membrane 23 homolog (Yeast) (B1APJ1_HUMAN)
  • Translocase of the inner mitochondrial membrane (Q6X2S9_HUMAN)
  • Mitochondrial import inner membrane translocase subunit Tim23 (TIM23_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14925

UniProtKB/Swiss-Prot:

TIM23_HUMAN :
  • Belongs to the Tim17/Tim22/Tim23 family.
Family:
  • Belongs to the Tim17/Tim22/Tim23 family.
genes like me logo Genes that share domains with TIMM23: view

Function for TIMM23 Gene

Molecular function for TIMM23 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

Phenotypes From GWAS Catalog for TIMM23 Gene

Gene Ontology (GO) - Molecular Function for TIMM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15044455
GO:0008320 protein transmembrane transporter activity IBA 21873635
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with TIMM23: view
genes like me logo Genes that share phenotypes with TIMM23: view

miRNA for TIMM23 Gene

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM23 Gene

Localization for TIMM23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM23 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIMM23 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TIMM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS 14726512
GO:0005744 TIM23 mitochondrial import inner membrane translocase complex IBA,IDA 10339406
GO:0005758 mitochondrial intermembrane space IDA 15044455
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM23: view

Pathways & Interactions for TIMM23 Gene

PathCards logo

SuperPathways for TIMM23 Gene

genes like me logo Genes that share pathways with TIMM23: view

Pathways by source for TIMM23 Gene

2 Reactome pathways for TIMM23 Gene

Gene Ontology (GO) - Biological Process for TIMM23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10339406
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
genes like me logo Genes that share ontologies with TIMM23: view

No data available for SIGNOR curated interactions for TIMM23 Gene

Drugs & Compounds for TIMM23 Gene

No Compound Related Data Available

Transcripts for TIMM23 Gene

mRNA/cDNA for TIMM23 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM23 Gene

No ASD Table

Relevant External Links for TIMM23 Gene

GeneLoc Exon Structure for
TIMM23

Expression for TIMM23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TIMM23 Gene

Protein differential expression in normal tissues from HIPED for TIMM23 Gene

This gene is overexpressed in Pancreas (44.6) and Lung (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TIMM23 Gene



Protein tissue co-expression partners for TIMM23 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIMM23

SOURCE GeneReport for Unigene cluster for TIMM23 Gene:

Hs.499594

Evidence on tissue expression from TISSUES for TIMM23 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TIMM23: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM23 Gene

Orthologs for TIMM23 Gene

This gene was present in the common ancestor of animals.

Orthologs for TIMM23 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TIMM23 30
  • 99.84 (n)
Dog
(Canis familiaris)
Mammalia LOC486776 30
  • 94.58 (n)
Cow
(Bos Taurus)
Mammalia TIMM23 30
  • 94.1 (n)
Mouse
(Mus musculus)
Mammalia Timm23 30 17
  • 90.43 (n)
Rat
(Rattus norvegicus)
Mammalia LOC100362432 30
  • 89.15 (n)
Chicken
(Gallus gallus)
Aves TIMM23 30
  • 81.34 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia timm23 30
  • 76.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii timm23 30
  • 71.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010210 30
  • 54.06 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG40042 30
  • 52.16 (n)
Species where no ortholog for TIMM23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TIMM23 Gene

ENSEMBL:
Gene Tree for TIMM23 (if available)
TreeFam:
Gene Tree for TIMM23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM23: view image

Paralogs for TIMM23 Gene

(1) SIMAP similar genes for TIMM23 Gene using alignment to 4 proteins:

  • TIM23_HUMAN
  • B1APJ0_HUMAN
  • E9PB91_HUMAN
  • H0Y6X5_HUMAN
genes like me logo Genes that share paralogs with TIMM23: view

No data available for Paralogs for TIMM23 Gene

Variants for TIMM23 Gene

Additional dbSNP identifiers (rs#s) for TIMM23 Gene

Structural Variations from Database of Genomic Variants (DGV) for TIMM23 Gene

Variant ID Type Subtype PubMed ID
dgv127e214 CNV gain 21293372
esv3577172 CNV gain 25503493
esv3623185 CNV gain 21293372
esv3623188 CNV gain 21293372
nsv1041519 CNV gain 25217958
nsv1068696 CNV deletion 25765185
nsv1126257 CNV deletion 24896259
nsv1130999 CNV deletion 24896259
nsv467192 CNV gain 19166990
nsv470936 CNV gain 18288195
nsv508583 CNV deletion 20534489
nsv510992 OTHER complex 20534489
nsv521269 CNV gain 19592680
nsv550853 CNV gain 21841781
nsv947995 CNV duplication 23825009
nsv950959 CNV deletion 24416366

Variation tolerance for TIMM23 Gene

Gene Damage Index Score: 0.17; 3.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM23 Gene

Disorders for TIMM23 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TIMM23 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TIMM23

genes like me logo Genes that share disorders with TIMM23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TIMM23 Gene

Publications for TIMM23 Gene

  1. Genetic and structural characterization of the human mitochondrial inner membrane translocase. (PMID: 10339406) Bauer MF … Hofmann S (Journal of molecular biology 1999) 2 3 4
  2. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4
  3. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PMID: 23263864) Schusdziarra C … Hell K (Human molecular genetics 2013) 3 4
  4. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick DU … Rehling P (Cell 2012) 2 3
  5. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 41

Products for TIMM23 Gene

Sources for TIMM23 Gene