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Aliases for TIMM9 Gene

Aliases for TIMM9 Gene

  • Translocase Of Inner Mitochondrial Membrane 9 2 3 5
  • TIM9A 3 4
  • TIM9 3 4
  • Translocase Of Inner Mitochondrial Membrane 9 (Yeast) Homolog 2
  • Translocase Of Inner Mitochondrial Membrane 9 Homolog (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim9 3
  • Translocase Of Inner Mitochondrial Membrane 9 Homolog 3
  • TIMM9A 4

External Ids for TIMM9 Gene

Previous GeneCards Identifiers for TIMM9 Gene

  • GC14M056199
  • GC14M052671
  • GC14M056865
  • GC14M057946
  • GC14M058875
  • GC14M039039

Summaries for TIMM9 Gene

Entrez Gene Summary for TIMM9 Gene

  • TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

GeneCards Summary for TIMM9 Gene

TIMM9 (Translocase Of Inner Mitochondrial Membrane 9) is a Protein Coding gene. Diseases associated with TIMM9 include Mitochondrial Metabolism Disease. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and chaperone binding.

UniProtKB/Swiss-Prot for TIMM9 Gene

  • Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be 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.

Gene Wiki entry for TIMM9 Gene

Additional gene information for TIMM9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM9 Gene

Genomics for TIMM9 Gene

GeneHancer (GH) Regulatory Elements for TIMM9 Gene

Promoters and enhancers for TIMM9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I058426 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 572.6 -0.3 -331 3.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A KIAA0586 TIMM9 GC14M058423 PSMA3-AS1 ENSG00000259969 ENSG00000258682 HMGB1P14 SLC35F4 ARID4A RPL31P4
GH14I058296 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.8 +129.2 129189 4.5 PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 PSMA3-AS1 ARID4A C14orf37 KIAA0586 ENSG00000258682 TIMM9 TOMM20L ACTR10 GC14P058345
GH14I059160 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.3 -734.2 -734211 1.7 ELF3 PKNOX1 FOXA2 ARID4B BMI1 DMAP1 ZSCAN9 RARA HSF1 ATF7 L3HYPDH KIAA0586 GPR135 PCNX4 DAAM1 TIMM9 PPIAP5 AKR1B1P5
GH14I058660 Enhancer 0.6 ENCODE 11.7 -232.7 -232714 1 ZNF202 RXRA ZBTB11 ZFP64 ZNF140 ZC3H11A ZBTB8A ZNF781 ZNF518A NR2F2 ENSG00000258682 PSMA3-AS1 KIAA0586 HMGB1P14 L3HYPDH ARID4A GPR135 TIMM9 DACT1 JKAMP
GH14I058430 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.8 -2.7 -2740 0.3 FOSL1 SMARCA4 JUN SCRT2 KDM1A FOS DPF2 TIMM9 KIAA0586 GC14P058442 GC14P058345
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TIMM9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TIMM9 gene promoter:

Genomic Locations for TIMM9 Gene

Genomic Locations for TIMM9 Gene
chr14:58,408,494-58,427,614
(GRCh38/hg38)
Size:
19,121 bases
Orientation:
Minus strand
chr14:58,875,212-58,894,332
(GRCh37/hg19)

Genomic View for TIMM9 Gene

Genes around TIMM9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM9 Gene

Proteins for TIMM9 Gene

  • Protein details for TIMM9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5J7-TIM9_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim9
    Protein Accession:
    Q9Y5J7
    Secondary Accessions:
    • B2R584

    Protein attributes for TIMM9 Gene

    Size:
    89 amino acids
    Molecular mass:
    10378 Da
    Quaternary structure:
    • Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6-bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B.

    Three dimensional structures from OCA and Proteopedia for TIMM9 Gene

neXtProt entry for TIMM9 Gene

Post-translational modifications for TIMM9 Gene

  • Ubiquitination at isoforms=81
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TIMM9 Gene

Domains & Families for TIMM9 Gene

Gene Families for TIMM9 Gene

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

Protein Domains for TIMM9 Gene

Suggested Antigen Peptide Sequences for TIMM9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5J7

UniProtKB/Swiss-Prot:

TIM9_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 TIMM9 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Probable).
  • 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 TIMM9 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Probable).
Family:
  • Belongs to the small Tim family.
genes like me logo Genes that share domains with TIMM9: view

Function for TIMM9 Gene

Molecular function for TIMM9 Gene

GENATLAS Biochemistry:
translocase of inner mitochondrial membrane 9 (yeast) homolog,expressed in cardiac,skeletal muscle and pancreas,S cerevisiae Tim9p ortholog,complexing with Tim10p and essential for escorting a class of multimembrane-spanning proteins
UniProtKB/Swiss-Prot Function:
Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be 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.

Gene Ontology (GO) - Molecular Function for TIMM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IDA 16387659
GO:0005515 protein binding IPI 14726512
GO:0008270 zinc ion binding TAS 10552927
GO:0008565 protein transporter activity IBA --
GO:0042803 protein homodimerization activity IPI 16387659
genes like me logo Genes that share ontologies with TIMM9: view
genes like me logo Genes that share phenotypes with TIMM9: view

Animal Model Products

CRISPR Products

miRNA for TIMM9 Gene

miRTarBase miRNAs that target TIMM9

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM9 Gene

Localization for TIMM9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM9 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 TIMM9 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TIMM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS,IDA --
GO:0005758 mitochondrial intermembrane space TAS 14726512
GO:0016020 membrane IEA --
GO:0042719 mitochondrial intermembrane space protein transporter complex TAS 10552927
genes like me logo Genes that share ontologies with TIMM9: view

Pathways & Interactions for TIMM9 Gene

genes like me logo Genes that share pathways with TIMM9: view

Pathways by source for TIMM9 Gene

2 Reactome pathways for TIMM9 Gene

Gene Ontology (GO) - Biological Process for TIMM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
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 ISS 14726512
genes like me logo Genes that share ontologies with TIMM9: view

No data available for SIGNOR curated interactions for TIMM9 Gene

Drugs & Compounds for TIMM9 Gene

No Compound Related Data Available

Transcripts for TIMM9 Gene

Unigene Clusters for TIMM9 Gene

Translocase of inner mitochondrial membrane 9 homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g
SP1: -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - - - -
SP6: - -
SP7:
SP8: - - -

Relevant External Links for TIMM9 Gene

GeneLoc Exon Structure for
TIMM9
ECgene alternative splicing isoforms for
TIMM9

Expression for TIMM9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM9 Gene

Protein differential expression in normal tissues from HIPED for TIMM9 Gene

This gene is overexpressed in Fetal Brain (7.7) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMM9 Gene



Protein tissue co-expression partners for TIMM9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMM9 Gene:

TIMM9

SOURCE GeneReport for Unigene cluster for TIMM9 Gene:

Hs.440525

mRNA Expression by UniProt/SwissProt for TIMM9 Gene:

Q9Y5J7-TIM9_HUMAN
Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle.

Evidence on tissue expression from TISSUES for TIMM9 Gene

  • Nervous system(4.4)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with TIMM9: 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 TIMM9 Gene

Orthologs for TIMM9 Gene

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

Orthologs for TIMM9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM9 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMM9 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMM9 33 34
  • 95.88 (n)
dog
(Canis familiaris)
Mammalia TIMM9 33 34
  • 95.51 (n)
rat
(Rattus norvegicus)
Mammalia Timm9 33
  • 93.63 (n)
mouse
(Mus musculus)
Mammalia Timm9 33 16 34
  • 92.51 (n)
chicken
(Gallus gallus)
Aves TIMM9 33
  • 83.52 (n)
lizard
(Anolis carolinensis)
Reptilia TIMM9 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timm9 33
  • 78.65 (n)
Str.1073 33
zebrafish
(Danio rerio)
Actinopterygii timm9 33 34
  • 79.4 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9815 33
fruit fly
(Drosophila melanogaster)
Insecta Tim9a 33 34
  • 56.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000781 33
  • 53.01 (n)
worm
(Caenorhabditis elegans)
Secernentea tin-9.1 34
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM9 34
  • 37 (a)
OneToOne
Species where no ortholog for TIMM9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 TIMM9 Gene

ENSEMBL:
Gene Tree for TIMM9 (if available)
TreeFam:
Gene Tree for TIMM9 (if available)

Paralogs for TIMM9 Gene

(3) SIMAP similar genes for TIMM9 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for TIMM9 Gene

genes like me logo Genes that share paralogs with TIMM9: view

No data available for Paralogs for TIMM9 Gene

Variants for TIMM9 Gene

Sequence variations from dbSNP and Humsavar for TIMM9 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs147119902 benign, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly 58,429,365(-) T/A upstream_transcript_variant
rs186659284 benign, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly 58,428,364(-) G/A/T upstream_transcript_variant
rs797045119 pathogenic, Short-rib thoracic dysplasia 14 with polydactyly 58,428,458(-) C/G upstream_transcript_variant
rs555421894 likely-pathogenic, not provided 58,428,358(-) C/CC upstream_transcript_variant
rs752709426 likely-pathogenic, not provided 58,428,236(-) A/C upstream_transcript_variant

Variation tolerance for TIMM9 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TIMM9 Gene

Disorders for TIMM9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TIMM9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards
Search TIMM9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TIMM9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TIMM9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TIMM9 Gene

Publications for TIMM9 Gene

  1. Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria. (PMID: 14726512) Mühlenbein N … Bauer MF (The Journal of biological chemistry 2004) 2 3 4 58
  2. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. (PMID: 10552927) Jin H … Vetrie DL (Genomics 1999) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller. (PMID: 16387659) Webb CT … Gulbis JM (Molecular cell 2006) 3 4 58
  5. 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 58

Products for TIMM9 Gene

Sources for TIMM9 Gene

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