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Aliases for TIMM50 Gene

Aliases for TIMM50 Gene

  • Translocase Of Inner Mitochondrial Membrane 50 Homolog (S. Cerevisiae) 2 3
  • TIM50 3 4
  • Translocase Of Inner Mitochondrial Membrane 50 Homolog (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM50 3
  • Homolog Of Yeast Tim50 3
  • Tim50-Like Protein 3
  • TIM50L 3

External Ids for TIMM50 Gene

Previous GeneCards Identifiers for TIMM50 Gene

  • GC19P044662
  • GC19P044663
  • GC19P039971
  • GC19P036417

Summaries for TIMM50 Gene

GeneCards Summary for TIMM50 Gene

TIMM50 (Translocase Of Inner Mitochondrial Membrane 50 Homolog (S. Cerevisiae)) is a Protein Coding gene. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. GO annotations related to this gene include RNA binding and protein serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot for TIMM50 Gene

  • Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body.

Gene Wiki entry for TIMM50 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM50 Gene

Genomics for TIMM50 Gene

Regulatory Elements for TIMM50 Gene

Genomic Location for TIMM50 Gene

Start:
39,480,412 bp from pter
End:
39,493,785 bp from pter
Size:
13,374 bases
Orientation:
Plus strand

Genomic View for TIMM50 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TIMM50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM50 Gene

Proteins for TIMM50 Gene

  • Protein details for TIMM50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3ZCQ8-TIM50_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM50
    Protein Accession:
    Q3ZCQ8
    Secondary Accessions:
    • Q330K1
    • Q6QA00
    • Q96FJ5
    • Q96GY2
    • Q9H370

    Protein attributes for TIMM50 Gene

    Size:
    353 amino acids
    Molecular mass:
    39646 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 TIMM23. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. Isoform 2 interacts with COIL and snRNPs.
    SequenceCaution:
    • Sequence=AAG35534.1; Type=Miscellaneous discrepancy; Note=Chimera.; Evidence={ECO:0000305};

    Alternative splice isoforms for TIMM50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TIMM50 Gene

Proteomics data for TIMM50 Gene at MOPED

Post-translational modifications for TIMM50 Gene

  • Ubiquitination at Lys232, Lys312, and Lys334
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TIMM50 Gene

Domains for TIMM50 Gene

Gene Families for TIMM50 Gene

HGNC:
  • CTD :Serine/threonine phosphatases / CTD aspartate-based phosphatases

Protein Domains for TIMM50 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q3ZCQ8

UniProtKB/Swiss-Prot:

TIM50_HUMAN :
  • Q3ZCQ8
Domain:
  • The FCP1 homology domain does not contain the canonical D-x-D-x-[TV] active site, suggesting that it probably does not display phosphatase activity in vivo
  • Contains 1 FCP1 homology domain.
Family:
  • Belongs to the TIM50 family.
genes like me logo Genes that share domains with TIMM50: view

Function for TIMM50 Gene

Molecular function for TIMM50 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. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body.

Gene Ontology (GO) - Molecular Function for TIMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004721 phosphoprotein phosphatase activity IDA 15044455
GO:0004722 protein serine/threonine phosphatase activity IDA 15044455
GO:0004725 protein tyrosine phosphatase activity IDA 15044455
GO:0005134 interleukin-2 receptor binding IDA 15044455
genes like me logo Genes that share ontologies with TIMM50: view

Phenotypes for TIMM50 Gene

GenomeRNAi human phenotypes for TIMM50:
genes like me logo Genes that share phenotypes with TIMM50: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TIMM50 Gene

Localization for TIMM50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM50 Gene

Mitochondrion inner membrane; Single-pass membrane protein.
Isoform 2: Nucleus speckle. Note=Nuclear and enriched in speckles with snRNPs.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TIMM50 Gene COMPARTMENTS Subcellular localization image for TIMM50 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TIMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IDA 15044455
GO:0005744 mitochondrial inner membrane presequence translocase complex IPI 15044455
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TIMM50: view

Pathways for TIMM50 Gene

genes like me logo Genes that share pathways with TIMM50: view

Pathways by source for TIMM50 Gene

2 Reactome pathways for TIMM50 Gene

Gene Ontology (GO) - Biological Process for TIMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001836 release of cytochrome c from mitochondria IDA 15044455
GO:0006470 protein dephosphorylation IDA 15044455
GO:0006626 protein targeting to mitochondrion TAS --
GO:0007006 mitochondrial membrane organization IMP 15044455
GO:0015031 protein transport --
genes like me logo Genes that share ontologies with TIMM50: view

Transcripts for TIMM50 Gene

Unigene Clusters for TIMM50 Gene

Translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM50 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - -
SP6:
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - -

Relevant External Links for TIMM50 Gene

GeneLoc Exon Structure for
TIMM50
ECgene alternative splicing isoforms for
TIMM50

Expression for TIMM50 Gene

mRNA expression in normal human tissues for TIMM50 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TIMM50 Gene

SOURCE GeneReport for Unigene cluster for TIMM50 Gene Hs.590956

mRNA Expression by UniProt/SwissProt for TIMM50 Gene

Q3ZCQ8-TIM50_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level).
genes like me logo Genes that share expressions with TIMM50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TIMM50 Gene

Orthologs for TIMM50 Gene

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

Orthologs for TIMM50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM50 35
  • 99.34 (n)
  • 99.12 (a)
TIMM50 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMM50 35
  • 90.75 (n)
  • 94.9 (a)
TIMM50 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM50 35
  • 86.39 (n)
  • 88.73 (a)
TIMM50 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Timm50 35
  • 87.91 (n)
  • 91.78 (a)
Timm50 16
Timm50 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIMM50 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC687295 35
  • 87.91 (n)
  • 92.63 (a)
chicken
(Gallus gallus)
Aves TIMM50 35
  • 75.65 (n)
  • 82.81 (a)
TIMM50 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMM50 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8302 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1790 35
timm50 35
  • 67.09 (n)
  • 74.52 (a)
zebrafish
(Danio rerio)
Actinopterygii timm50 35
  • 65.72 (n)
  • 70.35 (a)
timm50 36
  • 59 (a)
OneToOne
zgc66357 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001108 35
  • 50.11 (n)
  • 43.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta ttm2 36
  • 32 (a)
OneToMany
ttm3 36
  • 38 (a)
OneToMany
ttm50 35
  • 53.23 (n)
  • 45.15 (a)
ttm50 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea scpl-4 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM50 36
  • 22 (a)
OneToOne
TIM50 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3116 36
  • 42 (a)
OneToOne
Species with no ortholog for TIMM50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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 TIMM50 Gene

ENSEMBL:
Gene Tree for TIMM50 (if available)
TreeFam:
Gene Tree for TIMM50 (if available)

Paralogs for TIMM50 Gene

genes like me logo Genes that share paralogs with TIMM50: view

No data available for Paralogs for TIMM50 Gene

Variants for TIMM50 Gene

Sequence variations from dbSNP and Humsavar for TIMM50 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs10240 -- 39,488,590(-) CCAGG(G/T)CATAG missense, reference
rs11428 -- 39,489,831(-) TGAGG(A/G)GGCCC utr-variant-3-prime
rs1529734 -- 39,478,480(+) AACAA(A/C)AAAAA upstream-variant-2KB
rs1560731 -- 39,484,225(+) TAGCC(A/T)TGTAA intron-variant
rs1865094 -- 39,486,329(+) TGTGG(C/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM50 Gene

Variant ID Type Subtype PubMed ID
dgv3863n71 CNV Loss 21882294
nsv523856 CNV Loss 19592680
dgv3864n71 CNV Loss 21882294

Relevant External Links for TIMM50 Gene

HapMap Linkage Disequilibrium report
TIMM50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM50 Gene

Disorders for TIMM50 Gene

No disorders were found for TIMM50 Gene.

No data available for UniProtKB/Swiss-Prot for TIMM50 Gene

Publications for TIMM50 Gene

  1. Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death. (PMID: 15044455) Guo Y. … Alnemri E.S. (J. Biol. Chem. 2004) 3 4 23
  2. Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes. (PMID: 12437925) Yamamoto H. … Endo T. (Cell 2002) 2 3
  3. 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
  4. Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis. (PMID: 16008839) Xu H. … Hebert M.D. (BMC Cell Biol. 2005) 3 4
  5. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3

Products for TIMM50 Gene

Sources for TIMM50 Gene

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