The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] See more...

Aliases for ACOT9 Gene

Aliases for ACOT9 Gene

  • Acyl-CoA Thioesterase 9 2 3 4 5
  • Acyl-Coenzyme A Thioesterase 9, Mitochondrial 3 4
  • Acyl-CoA Thioester Hydrolase 9 3 4
  • Acyl-Coenzyme A Thioesterase 2, Mitochondrial 3
  • Mitochondrial Acyl-CoA Thioesterase 3
  • EC 3.1.2.15 52
  • EC 3.1.2.- 4
  • MT-ACT48 3
  • EC 3.1.2 52
  • MTACT48 3
  • ACATE2 3
  • CGI-16 3

External Ids for ACOT9 Gene

Previous GeneCards Identifiers for ACOT9 Gene

  • GC0XM023480
  • GC0XM021460

Summaries for ACOT9 Gene

Entrez Gene Summary for ACOT9 Gene

  • The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for ACOT9 Gene

ACOT9 (Acyl-CoA Thioesterase 9) is a Protein Coding gene. Diseases associated with ACOT9 include Syndromic X-Linked Intellectual Disability Turner Type and Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include carboxylic ester hydrolase activity and acetyl-CoA hydrolase activity.

UniProtKB/Swiss-Prot Summary for ACOT9 Gene

  • Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs.

Additional gene information for ACOT9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACOT9 Gene

Genomics for ACOT9 Gene

GeneHancer (GH) Regulatory Elements for ACOT9 Gene

Promoters and enhancers for ACOT9 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
GH0XJ023780 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 510.8 -19.4 -19404 10.6 ZBTB40 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 SAT1 ACOT9 NONHSAG054156.2-002 ZFX EIF2S3 RPL9P7 POLA1 ENSG00000202272 ENSG00000233785 LOC105373148
GH0XJ023741 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 507.1 +23.8 23808 2.9 ZBTB40 CTCF NRF1 POLR2G USF1 PHF8 JUND ZNF639 ZIC2 POLR2A ACOT9 ENSG00000233785 RF00017-8225 hsa-miR-5096-192 RF00017-8224
GH0XJ023766 Promoter/Enhancer 0.8 Ensembl ENCODE 500.7 -0.7 -684 1.3 TRIM28 ZBTB33 TCF7L2 AGO2 SETDB1 ZNF680 POLR2A ACOT9 FJ601666-085 LOC105373148 RF00017-8224 RF00017-8226
GH0XJ023764 Enhancer 0.7 Ensembl ENCODE 507.6 +1.9 1859 1.2 HIC1 RXRA THRB HNF4A HNF1A HNF4G SP1 YY1 ACOT9 hsa-miR-5096-192 LOC105373148 RF00017-8224 RF00017-8226
GH0XJ023765 Enhancer 0.4 Ensembl 500.7 +1.0 974 0.6 FOS JUND HIC1 STAT3 ACOT9 hsa-miR-5096-192 LOC105373148 RF00017-8224 RF00017-8226
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACOT9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACOT9

Top Transcription factor binding sites by QIAGEN in the ACOT9 gene promoter:
  • Cart-1
  • FOXD1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-1
  • HNF-1A
  • HOXA5
  • Pax-4a
  • POU2F1
  • POU2F1a

Genomic Locations for ACOT9 Gene

Genomic Locations for ACOT9 Gene
chrX:23,701,055-23,766,475
(GRCh38/hg38)
Size:
65,421 bases
Orientation:
Minus strand
chrX:23,720,370-23,784,592
(GRCh37/hg19)
Size:
64,223 bases
Orientation:
Minus strand

Genomic View for ACOT9 Gene

Genes around ACOT9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOT9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOT9 Gene

Proteins for ACOT9 Gene

  • Protein details for ACOT9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y305-ACOT9_HUMAN
    Recommended name:
    Acyl-coenzyme A thioesterase 9, mitochondrial
    Protein Accession:
    Q9Y305
    Secondary Accessions:
    • B3KNC9
    • B7ZM94

    Protein attributes for ACOT9 Gene

    Size:
    439 amino acids
    Molecular mass:
    49902 Da
    Quaternary structure:
    • Interacts with NYAP1, NYAP2 and MYO16.

    Alternative splice isoforms for ACOT9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACOT9 Gene

Selected DME Specific Peptides for ACOT9 Gene

Q9Y305:
  • VRDKLREI
  • NYIQVRVHSEV

Post-translational modifications for ACOT9 Gene

  • Ubiquitination at Lys73, Lys138, Lys250, and Lys272
  • Modification sites at PhosphoSitePlus

Domains & Families for ACOT9 Gene

Gene Families for ACOT9 Gene

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

Protein Domains for ACOT9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACOT9 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA thioester hydrolase 9 (ACOT9_HUMAN)
  • ACOT9 protein (Q96EA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y305

UniProtKB/Swiss-Prot:

ACOT9_HUMAN :
  • Belongs to the acyl coenzyme A hydrolase family.
Family:
  • Belongs to the acyl coenzyme A hydrolase family.
genes like me logo Genes that share domains with ACOT9: view

Function for ACOT9 Gene

Molecular function for ACOT9 Gene

UniProtKB/Swiss-Prot Function:
Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs.

Enzyme Numbers (IUBMB) for ACOT9 Gene

Gene Ontology (GO) - Molecular Function for ACOT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003986 acetyl-CoA hydrolase activity ISS --
GO:0016787 hydrolase activity IEA --
GO:0047617 acyl-CoA hydrolase activity IBA 21873635
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACOT9: view
genes like me logo Genes that share phenotypes with ACOT9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACOT9

CRISPR Products

miRNA for ACOT9 Gene

miRTarBase miRNAs that target ACOT9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOT9

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACOT9 Gene

Localization for ACOT9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOT9 Gene

Mitochondrion.

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 ACOT9 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
peroxisome 2
nucleus 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACOT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACOT9: view

Pathways & Interactions for ACOT9 Gene

genes like me logo Genes that share pathways with ACOT9: view

Gene Ontology (GO) - Biological Process for ACOT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006637 acyl-CoA metabolic process ISS,TAS --
genes like me logo Genes that share ontologies with ACOT9: view

No data available for SIGNOR curated interactions for ACOT9 Gene

Drugs & Compounds for ACOT9 Gene

(4) Drugs for ACOT9 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(33) Additional Compounds for ACOT9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACOT9: view

Transcripts for ACOT9 Gene

mRNA/cDNA for ACOT9 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 ACOT9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACOT9 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6:

Relevant External Links for ACOT9 Gene

GeneLoc Exon Structure for
ACOT9

Expression for ACOT9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACOT9 Gene

Protein differential expression in normal tissues from HIPED for ACOT9 Gene

This gene is overexpressed in Heart (7.8) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACOT9 Gene



Protein tissue co-expression partners for ACOT9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOT9

SOURCE GeneReport for Unigene cluster for ACOT9 Gene:

Hs.298885

Evidence on tissue expression from TISSUES for ACOT9 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ACOT9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOT9 Gene

Orthologs for ACOT9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACOT9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACOT9 31 30
  • 99.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACOT9 31 30
  • 89.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACOT9 31 30
  • 89.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acot9 17 31 30
  • 84.93 (n)
Acot10 31
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acot9 30
  • 84.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACOT9 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACOT9 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACOT9 31 30
  • 73.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACOT9 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acot9 30
  • 67.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25975 30
zebrafish
(Danio rerio)
Actinopterygii acot9.2 31 30
  • 66.41 (n)
OneToMany
acot9.1 31
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003848 30
  • 48.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1635 31 30
  • 46.99 (n)
OneToMany
CG1638 31
  • 33 (a)
OneToMany
CG13771 31
  • 29 (a)
OneToMany
CG1774 31
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T07D3.9 31 30
  • 46.8 (n)
OneToMany
F57F4.1 31
  • 29 (a)
OneToMany
T07D3.3 31
  • 26 (a)
OneToMany
T22B7.7 31
  • 25 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11385g 30
  • 45.9 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER418C 30
  • 44.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30720 30
  • 48.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2911 31
  • 44 (a)
OneToOne
Species where no ortholog for ACOT9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 (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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACOT9 Gene

ENSEMBL:
Gene Tree for ACOT9 (if available)
TreeFam:
Gene Tree for ACOT9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACOT9: view image

Paralogs for ACOT9 Gene

No data available for Paralogs for ACOT9 Gene

Variants for ACOT9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACOT9 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
VAR_062668 A pancreatic ductal adenocarcinoma sample p.Asn305His

Additional dbSNP identifiers (rs#s) for ACOT9 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACOT9 Gene

Variant ID Type Subtype PubMed ID
dgv2233e212 CNV loss 25503493
dgv2234e212 CNV loss 25503493
dgv2235e212 CNV loss 25503493
esv3573651 CNV loss 25503493
esv3573654 CNV loss 25503493
esv3573655 CNV loss 25503493
esv3573662 CNV loss 25503493
esv3576796 CNV gain 25503493
nsv470346 CNV gain 18288195
nsv478934 CNV novel sequence insertion 20440878

Variation tolerance for ACOT9 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOT9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOT9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOT9 Gene

Disorders for ACOT9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACOT9 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ACOT9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACOT9

genes like me logo Genes that share disorders with ACOT9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACOT9 Gene

Publications for ACOT9 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 54
  2. Molecular cloning and characterization of MT-ACT48, a novel mitochondrial acyl-CoA thioesterase. (PMID: 10383425) Poupon V … Benmerah A (The Journal of biological chemistry 1999) 2 3 23 54
  3. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. (PMID: 16103133) Hunt MC … Alexson SE (Journal of lipid research 2005) 2 3 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for ACOT9 Gene

Sources for ACOT9 Gene