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... See more...

Aliases for TIMM13 Gene

Aliases for TIMM13 Gene

  • Translocase Of Inner Mitochondrial Membrane 13 2 3 5
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim13 3 4
  • TIMM13B 3 4
  • TIMM13A 3 4
  • TIM13B 3 4
  • Translocase Of Inner Mitochondrial Membrane 13 (Yeast) Homolog B 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim13B 3
  • Translocase Of Inner Mitochondrial Membrane 13 Homolog (Yeast) 2
  • 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 Enterocele. Among its related pathways are Mitochondrial protein import and Metabolism of proteins.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TIMM13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM13 Gene

Genomics for TIMM13 Gene

GeneHancer (GH) Regulatory Elements for TIMM13 Gene

Promoters and enhancers for TIMM13 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 TIMM13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TIMM13 gene promoter:
  • AhR
  • HEN1
  • HNF-4alpha1
  • HNF-4alpha2
  • ITF-2
  • LCR-F1
  • Nkx2-5
  • p53
  • Tal-1beta
  • YY1

Genomic Locations for TIMM13 Gene

Genomic Locations for TIMM13 Gene
chr19:2,425,624-2,427,916
(GRCh38/hg38)
Size:
2,293 bases
Orientation:
Minus strand
chr19:2,425,622-2,427,892
(GRCh37/hg19)
Size:
2,271 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 Lys16
  • 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

Gene Families for TIMM13 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TIMM13 Gene

Suggested Antigen Peptide Sequences for TIMM13 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial import inner membrane translocase subunit Tim13 (TIM13_HUMAN)

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

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.

Phenotypes From GWAS Catalog for TIMM13 Gene

Gene Ontology (GO) - Molecular Function for TIMM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding TAS 10552927
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM13

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 4
cytosol 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TIMM13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IDA 24746669
GO:0005758 mitochondrial intermembrane space IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM13: view

Pathways & Interactions for TIMM13 Gene

PathCards logo

SuperPathways 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:0007605 sensory perception of sound TAS 10552927
GO:0015031 protein transport IEA --
GO:0045039 protein import into mitochondrial inner membrane IBA 21873635
GO:0072321 chaperone-mediated protein transport IEA,TAS 16387659
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

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(529) Selected AceView cDNA sequences:
(2) 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 TIMM13

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, 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

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 33 32
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TIMM13 33 32
  • 95.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Timm13 17 33 32
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Timm13 32
  • 91.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMM13 33
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM13 33
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIMM13 33 32
  • 90 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timm13 32
  • 75.83 (n)
Str.299 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.11533 32
zebrafish
(Danio rerio)
Actinopterygii timm13 33 32
  • 78.33 (n)
OneToOne
wufd44h11 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1218 32
fruit fly
(Drosophila melanogaster)
Insecta CG34132 33 32
  • 64.94 (n)
OneToMany
Tim13 33
  • 53 (a)
OneToMany
CG42302 33
  • 26 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002277 32
  • 64.32 (n)
worm
(Caenorhabditis elegans)
Secernentea tin-13 33
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM13 35 33
  • 35 (a)
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)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM13: view image

Paralogs for TIMM13 Gene

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

  • TIM13_HUMAN
  • K7EIT2_HUMAN

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 Variation AA Info Type
rs1000223929 -- 2,429,542(-) G/A upstream_transcript_variant
rs1000857314 -- 2,427,309(-) A/C coding_sequence_variant, missense_variant
rs1002500540 -- 2,426,291(-) G/C 3_prime_UTR_variant
rs1002516479 -- 2,429,450(-) G/A upstream_transcript_variant
rs1002591426 -- 2,429,574(-) C/T upstream_transcript_variant

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
mohr-tranebjaerg syndrome
  • dds
enterocele
  • vaginal enterocele
prolapse of female genital organ
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 CM (Human molecular genetics 2004) 3 4 23 56
  2. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. (PMID: 10552927) Jin H … Vetrie DL (Genomics 1999) 2 3 4 56
  3. Conserved motifs reveal details of ancestry and structure in the small TIM chaperones of the mitochondrial intermembrane space. (PMID: 17329230) Gentle IE … Lithgow T (Molecular biology and evolution 2007) 2 3 56
  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 56
  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 MF (The Journal of biological chemistry 2001) 3 4 56

Products for TIMM13 Gene

Sources for TIMM13 Gene