Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TIMM44 Gene

Aliases for TIMM44 Gene

  • Translocase Of Inner Mitochondrial Membrane 44 2 3 5
  • TIM44 3 4
  • Translocase Of Inner Mitochondrial Membrane 44 Homolog (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM44 3
  • Translocase Of Inner Mitochondrial Membrane 44 Homolog 3
  • MIMT44 4

External Ids for TIMM44 Gene

Previous GeneCards Identifiers for TIMM44 Gene

  • GC19M007950
  • GC19M008097
  • GC19M007897
  • GC19M007991
  • GC19M007661

Summaries for TIMM44 Gene

Entrez Gene Summary for TIMM44 Gene

  • This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]

GeneCards Summary for TIMM44 Gene

TIMM44 (Translocase Of Inner Mitochondrial Membrane 44) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. GO annotations related to this gene include chaperone binding and P-P-bond-hydrolysis-driven protein transmembrane transporter activity.

UniProtKB/Swiss-Prot for TIMM44 Gene

  • Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source.

Gene Wiki entry for TIMM44 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM44 Gene

Genomics for TIMM44 Gene

Regulatory Elements for TIMM44 Gene

Enhancers for TIMM44 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G007926 1.3 Ensembl ENCODE 17.9 +15.3 15342 5.0 PKNOX1 FOXA2 ATF1 AGO1 SIN3A YY1 ZNF121 GLIS2 GATA2 FOS TIMM44 ENSG00000269139 LOC105372266 CTXN1
GH19G007521 1.7 FANTOM5 ENCODE dbSUPER 11.6 +421.1 421063 2.0 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ELAVL1 HNRNPM ZNF414 XAB2 TIMM44 ZNF557 SNAPC2 EVI5L PEX11G MCOLN1
GH19G007941 1.1 ENCODE 17.2 +0.5 508 3.0 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 TIMM44 ELAVL1 HNRNPM ZNF558 CTXN1
GH19G008032 1.3 Ensembl ENCODE 11.1 -91.1 -91126 5.7 HDGF PKNOX1 ARNT ZNF766 ZNF592 MEF2D SMARCA4 NBN NR2C1 KDM1A ZNF558 HNRNPM XAB2 TIMM44 ZNF557 ZNF414 ELAVL1 ENSG00000269139 CCL25 LOC105372266
GH19G007924 1 ENCODE 12.6 +18.5 18506 1.3 ATF1 CREB3L1 AGO1 ARID4B SIN3A ZNF48 SLC30A9 ZNF143 KLF13 SP3 TIMM44 ENSG00000269139 SNAPC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TIMM44 on UCSC Golden Path with GeneCards custom track

Promoters for TIMM44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106751 220 1801 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for TIMM44 Gene

Chromosome:
19
Start:
7,926,718 bp from pter
End:
7,943,920 bp from pter
Size:
17,203 bases
Orientation:
Minus strand

Genomic View for TIMM44 Gene

Genes around TIMM44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM44 Gene

Proteins for TIMM44 Gene

  • Protein details for TIMM44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43615-TIM44_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM44
    Protein Accession:
    O43615
    Secondary Accessions:
    • A8K0R9
    • D6W664
    • Q8N193

    Protein attributes for TIMM44 Gene

    Size:
    452 amino acids
    Molecular mass:
    51356 Da
    Quaternary structure:
    • Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). The complex interacts with the TIMM23 component of the TIM23 complex.

    Three dimensional structures from OCA and Proteopedia for TIMM44 Gene

neXtProt entry for TIMM44 Gene

Post-translational modifications for TIMM44 Gene

  • Ubiquitination at isoforms=240, Lys246, and posLast=264264
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM44 Gene

No data available for DME Specific Peptides for TIMM44 Gene

Domains & Families for TIMM44 Gene

Suggested Antigen Peptide Sequences for TIMM44 Gene

Graphical View of Domain Structure for InterPro Entry

O43615

UniProtKB/Swiss-Prot:

TIM44_HUMAN :
  • Belongs to the Tim44 family.
Family:
  • Belongs to the Tim44 family.
genes like me logo Genes that share domains with TIMM44: view

No data available for Gene Families for TIMM44 Gene

Function for TIMM44 Gene

Molecular function for TIMM44 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source.

Gene Ontology (GO) - Molecular Function for TIMM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12620389
GO:0005524 ATP binding IEA --
GO:0051087 chaperone binding IBA --
genes like me logo Genes that share ontologies with TIMM44: view
genes like me logo Genes that share phenotypes with TIMM44: view

Animal Model Products

CRISPR Products

miRNA for TIMM44 Gene

miRTarBase miRNAs that target TIMM44

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM44 Gene

Localization for TIMM44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM44 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Mitochondrion matrix.

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 TIMM44 gene
Compartment Confidence
mitochondrion 5
nucleus 2
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TIMM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IDA 10339406
GO:0005759 mitochondrial matrix IDA 10339406
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM44: view

Pathways & Interactions for TIMM44 Gene

genes like me logo Genes that share pathways with TIMM44: view

Pathways by source for TIMM44 Gene

2 Reactome pathways for TIMM44 Gene

Gene Ontology (GO) - Biological Process for TIMM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10339406
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with TIMM44: view

No data available for SIGNOR curated interactions for TIMM44 Gene

Drugs & Compounds for TIMM44 Gene

(1) Drugs for TIMM44 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TIMM44: view

Transcripts for TIMM44 Gene

Unigene Clusters for TIMM44 Gene

Translocase of inner mitochondrial membrane 44 homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM44 Gene

No ASD Table

Relevant External Links for TIMM44 Gene

GeneLoc Exon Structure for
TIMM44
ECgene alternative splicing isoforms for
TIMM44

Expression for TIMM44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM44 Gene

Protein differential expression in normal tissues from HIPED for TIMM44 Gene

This gene is overexpressed in Bone (10.7), Peripheral blood mononuclear cells (9.8), and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMM44 Gene



Protein tissue co-expression partners for TIMM44 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMM44 Gene:

TIMM44

SOURCE GeneReport for Unigene cluster for TIMM44 Gene:

Hs.465784

Evidence on tissue expression from TISSUES for TIMM44 Gene

  • Nervous system(4.8)
  • Muscle(4.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with TIMM44: view

Primer Products

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 TIMM44 Gene

Orthologs for TIMM44 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TIMM44 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM44 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia TIMM44 34 35
  • 89.06 (n)
cow
(Bos Taurus)
Mammalia TIMM44 34 35
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Timm44 34 16 35
  • 84.59 (n)
rat
(Rattus norvegicus)
Mammalia Timm44 34
  • 83.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TIMM44 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIMM44 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIMM44 34 35
  • 73.97 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia timm44 34
  • 69.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13880 34
zebrafish
(Danio rerio)
Actinopterygii timm44 35 35
  • 75 (a)
OneToMany
LOC100537910 34
  • 70.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000291 34
  • 62.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11779 34 35
  • 59.15 (n)
worm
(Caenorhabditis elegans)
Secernentea T09B4.9 36 34 35
  • 49.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL118C 34
  • 47.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM44 34 35 37
  • 45.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16214g 34
  • 42.58 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03229 34
  • 46.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tim44 34
  • 42.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2213 35
  • 40 (a)
OneToOne
Species where no ortholog for TIMM44 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for TIMM44 Gene

ENSEMBL:
Gene Tree for TIMM44 (if available)
TreeFam:
Gene Tree for TIMM44 (if available)

Paralogs for TIMM44 Gene

(2) SIMAP similar genes for TIMM44 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TIMM44: view

No data available for Paralogs for TIMM44 Gene

Variants for TIMM44 Gene

Sequence variations from dbSNP and Humsavar for TIMM44 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs138385134 Likely benign 7,927,274(+) CAGAG(C/T)GCCCA upstream-variant-2KB, reference, synonymous-codon
rs147925283 Likely benign 7,933,967(+) CAGGA(A/C/T)GCTGT reference, missense
rs149700042 Likely benign 7,941,185(+) TCCAC(C/T)GCCGA reference, missense
rs143337629 Uncertain significance 7,927,239(+) AGGCC(A/G)CGTAG upstream-variant-2KB, reference, missense
rs192670629 Uncertain significance 7,941,205(+) AATTG(C/G/T)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM44 Gene

Variant ID Type Subtype PubMed ID
nsv833733 CNV gain 17160897
nsv953961 CNV deletion 24416366

Variation tolerance for TIMM44 Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMM44 Gene

Human Gene Mutation Database (HGMD)
TIMM44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM44 Gene

Disorders for TIMM44 Gene

Relevant External Links for TIMM44

Genetic Association Database (GAD)
TIMM44
Human Genome Epidemiology (HuGE) Navigator
TIMM44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMM44

No disorders were found for TIMM44 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TIMM44 Gene

Publications for TIMM44 Gene

  1. Genetic and structural characterization of the human mitochondrial inner membrane translocase. (PMID: 10339406) Bauer M.F. … Hofmann S. (J. Mol. Biol. 1999) 2 3 4 22 64
  2. Structure of the human Tim44 C-terminal domain in complex with pentaethylene glycol: ligand-bound form. (PMID: 18084070) Handa N. … Yokoyama S. (Acta Crystallogr. D Biol. Crystallogr. 2007) 3 4 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Isoform-specific localization of A-RAF in mitochondria. (PMID: 10848612) Yuryev A. … Wennogle L.P. (Mol. Cell. Biol. 2000) 2 3 64

Products for TIMM44 Gene

Sources for TIMM44 Gene

Content
Loading form....