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

Aliases for TIMM13 Gene

Aliases for TIMM13 Gene

  • Translocase Of Inner Mitochondrial Membrane 13 2 3 5
  • TIMM13B 3 4
  • TIMM13A 3 4
  • TIM13B 3 4
  • Translocase Of Inner Mitochondrial Membrane 13 (Yeast) Homolog B 2
  • Translocase Of Inner Mitochondrial Membrane 13 Homolog (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim13B 3
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim13 3
  • Translocase Of Inner Mitochondrial Membrane 13 Homolog 3
  • TIM13 3
  • Ppv1 3

External Ids for TIMM13 Gene

Previous HGNC Symbols for TIMM13 Gene

  • TIMM13B

Previous GeneCards Identifiers for TIMM13 Gene

  • GC19M002488
  • GC19M002365
  • GC19M002376
  • GC19M002197

Summaries for TIMM13 Gene

Entrez Gene Summary for TIMM13 Gene

  • This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]

GeneCards Summary for TIMM13 Gene

TIMM13 (Translocase Of Inner Mitochondrial Membrane 13) is a Protein Coding gene. Diseases associated with TIMM13 include Mohr-Tranebjaerg Syndrome and Mitochondrial Metabolism Disease. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

UniProtKB/Swiss-Prot for TIMM13 Gene

  • Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins.

Gene Wiki entry for TIMM13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM13 Gene

Genomics for TIMM13 Gene

Regulatory Elements for TIMM13 Gene

Enhancers for TIMM13 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
GH19G002422 1.1 ENCODE 27.4 +1.8 1755 6.8 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 MLX AGO1 ARID4B SIN3A FEZF1 TIMM13 TMPRSS9 RPS15 SF3A2 SCAMP4 PIR60720 PIR39105
GH19G002461 1.4 ENCODE dbSUPER 12.4 -34.6 -34578 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 TIMM13 ZNF555 SF3A2 LINC01775 GADD45B
GH19G002393 1.5 FANTOM5 Ensembl ENCODE 9.7 +32.7 32681 2.6 HDGF FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 NFYC TIMM13 TMPRSS9 SPPL2B DOT1L CSNK1G2 PIR50739 PIR39105
GH19G002454 1 ENCODE 11.8 -28.2 -28171 3.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 TMPRSS9 TIMM13 ENSG00000267214 LMNB2 GC19P002446
GH19G002474 1.7 FANTOM5 ENCODE dbSUPER 6.1 -49.5 -49519 5.6 MLX AGO1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 ZFP41 ZNF77 SF3A2 GADD45B ZNF555 LOC100288123 ENSG00000261526 DOT1L TIMM13 LOC101928631 AMH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TIMM13 on UCSC Golden Path with GeneCards custom track

Promoters for TIMM13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105864 416 1401 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 MLX AGO1 ARID4B SIN3A FEZF1

Genomic Location for TIMM13 Gene

Chromosome:
19
Start:
2,425,624 bp from pter
End:
2,427,916 bp from pter
Size:
2,293 bases
Orientation:
Minus strand

Genomic View for TIMM13 Gene

Genes around TIMM13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM13 Gene

Proteins for TIMM13 Gene

  • Protein details for TIMM13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5L4-TIM13_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim13
    Protein Accession:
    Q9Y5L4
    Secondary Accessions:
    • P62206
    • Q9UHL8
    • Q9WTL1

    Protein attributes for TIMM13 Gene

    Size:
    95 amino acids
    Molecular mass:
    10500 Da
    Quaternary structure:
    • Heterohexamer; composed of 3 copies of TIMM8 (TIMM8A or TIMM8B) and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22.

neXtProt entry for TIMM13 Gene

Post-translational modifications for TIMM13 Gene

  • Ubiquitination at posLast=1616
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM13 Gene

Domains & Families for TIMM13 Gene

Protein Domains for TIMM13 Gene

Suggested Antigen Peptide Sequences for TIMM13 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5L4

UniProtKB/Swiss-Prot:

TIM13_HUMAN :
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM13 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
  • Belongs to the small Tim family.
Domain:
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM13 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
Family:
  • Belongs to the small Tim family.
genes like me logo Genes that share domains with TIMM13: view

No data available for Gene Families for TIMM13 Gene

Function for TIMM13 Gene

Molecular function for TIMM13 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins.

Gene Ontology (GO) - Molecular Function for TIMM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding TAS 10552927
GO:0008565 protein transporter activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TIMM13: view
genes like me logo Genes that share phenotypes with TIMM13: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM13 Gene

Localization for TIMM13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM13 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

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 TIMM13 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
extracellular 2

Gene Ontology (GO) - Cellular Components for TIMM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane IDA,IEA 24746669
GO:0016020 membrane IEA --
GO:0042719 mitochondrial intermembrane space protein transporter complex TAS 10552927
genes like me logo Genes that share ontologies with TIMM13: view

Pathways & Interactions for TIMM13 Gene

genes like me logo Genes that share pathways with TIMM13: view

Pathways by source for TIMM13 Gene

2 Reactome pathways for TIMM13 Gene

Gene Ontology (GO) - Biological Process for TIMM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10552927
GO:0006810 transport IEA --
GO:0007605 sensory perception of sound TAS 10552927
GO:0015031 protein transport IEA --
GO:0045039 protein import into mitochondrial inner membrane IBA --
genes like me logo Genes that share ontologies with TIMM13: view

No data available for SIGNOR curated interactions for TIMM13 Gene

Drugs & Compounds for TIMM13 Gene

No Compound Related Data Available

Transcripts for TIMM13 Gene

mRNA/cDNA for TIMM13 Gene

Unigene Clusters for TIMM13 Gene

Translocase of inner mitochondrial membrane 13 homolog (yeast):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM13 Gene

No ASD Table

Relevant External Links for TIMM13 Gene

GeneLoc Exon Structure for
TIMM13
ECgene alternative splicing isoforms for
TIMM13

Expression for TIMM13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM13 Gene

Protein differential expression in normal tissues from HIPED for TIMM13 Gene

This gene is overexpressed in Nasal epithelium (9.8) and Liver, secretome (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMM13 Gene



Protein tissue co-expression partners for TIMM13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMM13 Gene:

TIMM13

SOURCE GeneReport for Unigene cluster for TIMM13 Gene:

Hs.75056

mRNA Expression by UniProt/SwissProt for TIMM13 Gene:

Q9Y5L4-TIM13_HUMAN
Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle.

Evidence on tissue expression from TISSUES for TIMM13 Gene

  • Liver(4.3)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TIMM13: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM13 Gene

Orthologs for TIMM13 Gene

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

Orthologs for TIMM13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM13 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia TIMM13 34 35
  • 95.79 (n)
mouse
(Mus musculus)
Mammalia Timm13 34 16 35
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Timm13 34
  • 91.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMM13 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM13 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIMM13 34 35
  • 90 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia timm13 34
  • 75.83 (n)
Str.299 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11533 34
zebrafish
(Danio rerio)
Actinopterygii timm13 34 35
  • 78.33 (n)
wufd44h11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1218 34
fruit fly
(Drosophila melanogaster)
Insecta CG34132 34 35
  • 64.94 (n)
Tim13 35
  • 53 (a)
OneToMany
CG42302 35
  • 26 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002277 34
  • 64.32 (n)
worm
(Caenorhabditis elegans)
Secernentea tin-13 35
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM13 35 37
  • 35 (a)
OneToOne
Species where no ortholog for TIMM13 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for TIMM13 Gene

ENSEMBL:
Gene Tree for TIMM13 (if available)
TreeFam:
Gene Tree for TIMM13 (if available)

Paralogs for TIMM13 Gene

(2) SIMAP similar genes for TIMM13 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for TIMM13 Gene

genes like me logo Genes that share paralogs with TIMM13: view

No data available for Paralogs for TIMM13 Gene

Variants for TIMM13 Gene

Sequence variations from dbSNP and Humsavar for TIMM13 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000223929 -- 2,429,542(+) GAGGC(A/G)GGATG upstream-variant-2KB, utr-variant-3-prime
rs1000857314 -- 2,427,309(+) GAAAC(A/C)CTTGT reference, missense
rs1001324934 -- 2,429,862(+) CAGGC(A/T)TTGGG upstream-variant-2KB, utr-variant-3-prime
rs1002500540 -- 2,426,291(+) TCACA(C/G)CGAGG downstream-variant-500B, utr-variant-3-prime
rs1002516479 -- 2,429,450(+) GCAGC(A/G)GGTGT upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TIMM13 Gene

Variant ID Type Subtype PubMed ID
esv2664636 CNV deletion 23128226
nsv1064930 CNV gain 25217958
nsv1160562 CNV deletion 26073780
nsv953944 CNV deletion 24416366

Variation tolerance for TIMM13 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMM13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM13 Gene

Disorders for TIMM13 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TIMM13 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mohr-tranebjaerg syndrome
  • jensen syndrome
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TIMM13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMM13
genes like me logo Genes that share disorders with TIMM13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TIMM13 Gene

Publications for TIMM13 Gene

  1. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. (PMID: 15254020) Roesch K. … Koehler C.M. (Hum. Mol. Genet. 2004) 3 4 22 64
  2. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PMID: 10552927) Jin H. … Vetrie D.L.P. (Genomics 1999) 2 3 4 64
  3. Conserved motifs reveal details of ancestry and structure in the small TIM chaperones of the mitochondrial intermembrane space. (PMID: 17329230) Gentle I.E. … Lithgow T. (Mol. Biol. Evol. 2007) 2 3 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. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PMID: 11489896) Rothbauer U. … Bauer M.F. (J. Biol. Chem. 2001) 3 4 64

Products for TIMM13 Gene

Sources for TIMM13 Gene

Content
Loading form....