Aliases for TIMM17A Gene

Aliases for TIMM17A Gene

  • Translocase Of Inner Mitochondrial Membrane 17A 2 3 5
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim17-A 3 4
  • Inner Membrane Preprotein Translocase Tim17a 3 4
  • TIM17A 3 4
  • TIM17 3 4
  • Translocase Of Inner Mitochondrial Membrane 17 Homolog A (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 17 Homolog A 3
  • Mitochondrial Inner Membrane Translocase 3
  • Preprotein Translocase 3
  • MIMT17 4
  • TIMM17 4

External Ids for TIMM17A Gene

Previous GeneCards Identifiers for TIMM17A Gene

  • GC01P199608
  • GC01P197358
  • GC01P198391
  • GC01P199212
  • GC01P198656
  • GC01P200192
  • GC01P201924
  • GC01P173090

Summaries for TIMM17A Gene

GeneCards Summary for TIMM17A Gene

TIMM17A (Translocase Of Inner Mitochondrial Membrane 17A) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include P-P-bond-hydrolysis-driven protein transmembrane transporter activity. An important paralog of this gene is TIMM17B.

UniProtKB/Swiss-Prot Summary for TIMM17A Gene

  • Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.

Gene Wiki entry for TIMM17A Gene

Additional gene information for TIMM17A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM17A Gene

Genomics for TIMM17A Gene

GeneHancer (GH) Regulatory Elements for TIMM17A Gene

Promoters and enhancers for TIMM17A 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 TIMM17A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TIMM17A gene promoter:
  • AML1a
  • E47
  • Evi-1
  • FOXO4
  • Hand1
  • HTF
  • LUN-1
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for TIMM17A Gene

Genomic Locations for TIMM17A Gene
chr1:201,955,491-201,970,664
(GRCh38/hg38)
Size:
15,174 bases
Orientation:
Plus strand
chr1:201,924,619-201,939,789
(GRCh37/hg19)
Size:
15,171 bases
Orientation:
Plus strand

Genomic View for TIMM17A Gene

Genes around TIMM17A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM17A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM17A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM17A Gene

Proteins for TIMM17A Gene

  • Protein details for TIMM17A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99595-TI17A_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim17-A
    Protein Accession:
    Q99595
    Secondary Accessions:
    • B2RDM5
    • Q9BWF5

    Protein attributes for TIMM17A Gene

    Size:
    171 amino acids
    Molecular mass:
    18024 Da
    Quaternary structure:
    • Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15.

neXtProt entry for TIMM17A Gene

Post-translational modifications for TIMM17A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TIMM17A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM17A Gene

Domains & Families for TIMM17A Gene

Gene Families for TIMM17A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Protein Domains for TIMM17A Gene

Suggested Antigen Peptide Sequences for TIMM17A Gene

GenScript: Design optimal peptide antigens:
  • TIMM17A protein (A0PJ74_HUMAN)
  • Mitochondrial inner membrane translocase (Q7RU05_HUMAN)
  • Inner membrane preprotein translocase Tim17a (TI17A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99595

UniProtKB/Swiss-Prot:

TI17A_HUMAN :
  • Belongs to the Tim17/Tim22/Tim23 family.
Family:
  • Belongs to the Tim17/Tim22/Tim23 family.
genes like me logo Genes that share domains with TIMM17A: view

Function for TIMM17A Gene

Molecular function for TIMM17A 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.

Phenotypes From GWAS Catalog for TIMM17A Gene

Gene Ontology (GO) - Molecular Function for TIMM17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008320 contributes_to protein transmembrane transporter activity IBA 21873635
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with TIMM17A: view
genes like me logo Genes that share phenotypes with TIMM17A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM17A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM17A Gene

Localization for TIMM17A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM17A Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

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 TIMM17A gene
Compartment Confidence
mitochondrion 5
nucleus 4
plasma membrane 2
endoplasmic reticulum 1
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TIMM17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IDA 20053669
GO:0005744 TIM23 mitochondrial import inner membrane translocase complex IBA,IDA 10339406
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM17A: view

Pathways & Interactions for TIMM17A Gene

PathCards logo

SuperPathways for TIMM17A Gene

genes like me logo Genes that share pathways with TIMM17A: view

Pathways by source for TIMM17A Gene

2 Reactome pathways for TIMM17A Gene

Gene Ontology (GO) - Biological Process for TIMM17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS 10339406
GO:0006886 intracellular protein transport IEA --
GO:0010954 positive regulation of protein processing IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
genes like me logo Genes that share ontologies with TIMM17A: view

No data available for SIGNOR curated interactions for TIMM17A Gene

Drugs & Compounds for TIMM17A Gene

(1) Drugs for TIMM17A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TIMM17A: view

Transcripts for TIMM17A Gene

mRNA/cDNA for TIMM17A Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM17A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM17A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: - -

Relevant External Links for TIMM17A Gene

GeneLoc Exon Structure for
TIMM17A
ECgene alternative splicing isoforms for
TIMM17A

Expression for TIMM17A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM17A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TIMM17A Gene

This gene is overexpressed in Fetal Brain (37.3), Stomach (21.8), and Placenta (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TIMM17A Gene



Protein tissue co-expression partners for TIMM17A Gene

NURSA nuclear receptor signaling pathways regulating expression of TIMM17A Gene:

TIMM17A

SOURCE GeneReport for Unigene cluster for TIMM17A Gene:

Hs.20716

Evidence on tissue expression from TISSUES for TIMM17A Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Bone marrow(4.3)
  • Muscle(4.3)
  • Kidney(2.9)
  • Liver(2.5)
genes like me logo Genes that share expression patterns with TIMM17A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM17A Gene

Orthologs for TIMM17A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TIMM17A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM17A 33 32
  • 98.83 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TIMM17A 33
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIMM17A 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMM17A 33 32
  • 95.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Timm17a 32
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Timm17a 17 33 32
  • 89.08 (n)
cow
(Bos Taurus)
Mammalia TIMM17A 33 32
  • 87.13 (n)
OneToOne
chicken
(Gallus gallus)
Aves TIMM17A 33 32
  • 79.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMM17A 33
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timm17a 32
  • 72.85 (n)
Str.10877 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.30296 32
zebrafish
(Danio rerio)
Actinopterygii timm17a 33 32 32
  • 77.31 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tim17b 33
  • 65 (a)
ManyToMany
Tim17b2 33 34
  • 56 (a)
ManyToMany
CG1724 33 34
  • 52 (a)
ManyToMany
Tim17b1 33 34
  • 49 (a)
ManyToMany
Tim17a1 33 34
  • 38 (a)
ManyToMany
Tim17a2 33 34
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea E04A4.5 33 34
  • 43 (a)
ManyToMany
D2096.1 33
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM17 33
  • 47 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os03g0415500 32
  • 54.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4827 33
  • 51 (a)
OneToMany
Species where no ortholog for TIMM17A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 TIMM17A Gene

ENSEMBL:
Gene Tree for TIMM17A (if available)
TreeFam:
Gene Tree for TIMM17A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM17A: view image

Paralogs for TIMM17A Gene

Paralogs for TIMM17A Gene

(2) SIMAP similar genes for TIMM17A Gene using alignment to 2 proteins:

  • TI17A_HUMAN
  • A0PJ74_HUMAN

Pseudogenes.org Pseudogenes for TIMM17A Gene

genes like me logo Genes that share paralogs with TIMM17A: view

Variants for TIMM17A Gene

Sequence variations from dbSNP and Humsavar for TIMM17A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000131923 -- 201,953,550(+) G/A upstream_transcript_variant
rs1000185883 -- 201,960,545(+) G/T intron_variant
rs1000295142 -- 201,966,719(+) G/A intron_variant
rs1000328603 -- 201,964,969(+) T/A intron_variant
rs1000398304 -- 201,964,816(+) T/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM17A Gene

Variant ID Type Subtype PubMed ID
nsv1121787 CNV deletion 24896259
nsv161136 CNV deletion 16902084
nsv478856 CNV novel sequence insertion 20440878
nsv946576 CNV duplication 23825009

Variation tolerance for TIMM17A Gene

Residual Variation Intolerance Score: 55.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM17A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM17A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM17A Gene

Disorders for TIMM17A Gene

Additional Disease Information for TIMM17A

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

No disorders were found for TIMM17A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TIMM17A Gene

Publications for TIMM17A 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 56
  2. The preprotein translocase of the inner mitochondrial membrane: evolutionary conservation of targeting and assembly of Tim17. (PMID: 8893850) Bömer U … Maarse AC (Journal of molecular biology 1996) 2 3 4 23 56
  3. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PMID: 23263864) Schusdziarra C … Hell K (Human molecular genetics 2013) 3 4 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for TIMM17A Gene

Sources for TIMM17A Gene