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. Expres... See more...

Aliases for TIMM44 Gene

Aliases for TIMM44 Gene

  • Translocase Of Inner Mitochondrial Membrane 44 2 3 5
  • TIM44 2 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM44 3 4
  • Translocase Of Inner Mitochondrial Membrane 44 Homolog (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 44 Homolog 3
  • TIMM44 5
  • 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. Diseases associated with TIMM44 include Atrophy Of Prostate. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include chaperone binding and P-P-bond-hydrolysis-driven protein transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TIMM44 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM44 Gene

Genomics for TIMM44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TIMM44 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM44

Top Transcription factor binding sites by QIAGEN in the TIMM44 gene promoter:
  • CHOP-10
  • FOXD1
  • HEN1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TIMM44 Gene

Genomic Locations for TIMM44 Gene
chr19:7,926,718-7,943,667
(GRCh38/hg38)
Size:
16,950 bases
Orientation:
Minus strand
chr19:7,991,603-8,008,805
(GRCh37/hg19)
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 Lys240, Lys246, and Lys264
  • 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

Gene Families for TIMM44 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TIMM44 Gene

InterPro:
Blocks:
  • Mitochondrial import inner membrane translocase, subunit Tim44
ProtoNet:

Suggested Antigen Peptide Sequences for TIMM44 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial import inner membrane translocase subunit TIM44 (TIM44_HUMAN)

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

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.

Phenotypes From GWAS Catalog for TIMM44 Gene

Gene Ontology (GO) - Molecular Function for TIMM44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 12620389
GO:0005524 ATP binding IEA --
GO:0051087 chaperone binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM44

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 3
endoplasmic reticulum 2
cytosol 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 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

PathCards logo

SuperPathways 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:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
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

mRNA/cDNA for TIMM44 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM44

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

No ASD Table

Relevant External Links for TIMM44 Gene

GeneLoc Exon Structure for
TIMM44

Expression for TIMM44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TIMM44 Gene



Protein tissue co-expression partners for TIMM44 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIMM44

SOURCE GeneReport for Unigene cluster for TIMM44 Gene:

Hs.465784

Evidence on tissue expression from TISSUES for TIMM44 Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Liver(2.4)
  • Kidney(2.3)
  • Heart(2.3)
  • Skin(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with TIMM44: 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 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 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TIMM44 30 31
  • 89.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TIMM44 30 31
  • 87.66 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Timm44 30 17 31
  • 84.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Timm44 30
  • 83.85 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TIMM44 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TIMM44 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TIMM44 30 31
  • 73.97 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia timm44 30
  • 69.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13880 30
Zebrafish
(Danio rerio)
Actinopterygii timm44 31 31
  • 75 (a)
OneToMany
LOC100537910 30
  • 70.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000291 30
  • 62.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11779 30 31
  • 59.15 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T09B4.9 30 31 32
  • 49.28 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL118C 30
  • 47.26 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM44 30 31 33
  • 45.63 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16214g 30
  • 42.58 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03229 30
  • 46.92 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tim44 30
  • 42.07 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2213 31
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM44: view image

Paralogs for TIMM44 Gene

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

  • TIM44_HUMAN
  • M0QXM9_HUMAN
  • M0QXU7_HUMAN
  • M0R124_HUMAN
  • M0R301_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM44 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
709153 Benign: not provided 7,931,186(-) G/A SYNONYMOUS_VARIANT
rs1057522943 Likely Benign: not specified 7,932,931(-) C/G SYNONYMOUS_VARIANT
rs11542187 Benign: not specified; not provided 7,928,091(-) T/C MISSENSE_VARIANT
rs11542188 Benign: not specified; not provided 7,927,241(-) G/A SYNONYMOUS_VARIANT
rs11542189 Benign: not specified; not provided 7,935,116(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TIMM44 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for TIMM44 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrophy of prostate
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TIMM44

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TIMM44: view

No data available for 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 MF … Hofmann S (Journal of molecular biology 1999) 2 3 4 23
  2. Structure of the human Tim44 C-terminal domain in complex with pentaethylene glycol: ligand-bound form. (PMID: 18084070) Handa N … Yokoyama S (Acta crystallographica. Section D, Biological crystallography 2007) 3 4 23
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Isoform-specific localization of A-RAF in mitochondria. (PMID: 10848612) Yuryev A … Wennogle LP (Molecular and cellular biology 2000) 2 3

Products for TIMM44 Gene

Sources for TIMM44 Gene