Aliases for ACOT12 Gene

Aliases for ACOT12 Gene

  • Acyl-CoA Thioesterase 12 2 3 4 5
  • STARD15 2 3 4
  • StAR-Related Lipid Transfer (START) Domain Containing 15 2 3
  • START Domain-Containing Protein 15 3 4
  • Cytoplasmic Acetyl-CoA Hydrolase 1 3 4
  • Acyl-CoA Thioester Hydrolase 12 3 4
  • Acyl-Coenzyme A Thioesterase 12 3 4
  • Acetyl-Coenzyme A Thioesterase 3 4
  • EC 3.1.2.1 4 51
  • HCACH-1 3 4
  • CACH-1 3 4
  • THEAL 2 3
  • Cach 2 3
  • Cytosolic Acetyl-CoA Hydrolase 3
  • StARD15 4
  • ACOT12 5
  • CACH1 4
  • CACH 4

External Ids for ACOT12 Gene

Previous GeneCards Identifiers for ACOT12 Gene

  • GC05M080662
  • GC05M075834
  • GC05M080625
  • GC05M081329

Summaries for ACOT12 Gene

GeneCards Summary for ACOT12 Gene

ACOT12 (Acyl-CoA Thioesterase 12) is a Protein Coding gene. Diseases associated with ACOT12 include Leukoencephalopathy With Vanishing White Matter. Among its related pathways are Metabolism and Pyruvate metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and acetyl-CoA hydrolase activity. An important paralog of this gene is ACOT11.

UniProtKB/Swiss-Prot Summary for ACOT12 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 (PubMed:16951743). Acyl-coenzyme A thioesterase 12/ACOT12 preferentially hydrolyzes acetyl-CoA (PubMed:16951743).

Gene Wiki entry for ACOT12 Gene

Additional gene information for ACOT12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACOT12 Gene

Genomics for ACOT12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACOT12 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
GH05J081393 Promoter 1.1 EPDnew Ensembl 605.4 +0.1 78 1.4 CTCF KDM1A EZH2 CEBPB ZBTB20 ZBTB26 ZNF580 YY1 ZNF335 RAD21 ACOT12 SSBP2 piR-42491-178 RF00017-4771 ZCCHC9
GH05J081407 Promoter 0.6 EPDnew 600.4 -13.8 -13780 0.1 IKZF1 SP1 MZF1 ACOT12 ENSG00000286721 lnc-ZCCHC9-1 SSBP2
GH05J081419 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 11.1 -28.6 -28622 8.8 CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 ZNF692 ZNF174 JUND ACOT12 CKMT2-AS1 ZCCHC9 ENSG00000248794 SSBP2 lnc-ACOT12-4 piR-31162-405 lnc-SSBP2-5
GH05J081408 Enhancer 0.7 FANTOM5 Ensembl 17.4 -14.9 -14922 2.2 ATF7 IKZF1 CEBPB ATF3 CEBPG ATF4 SP1 MZF1 ACOT12 SSBP2 FAM151B ENSG00000286721 lnc-ZCCHC9-1
GH05J081352 Enhancer 0.9 ENCODE 11.8 +40.2 40185 2.2 GATAD2A REST RCOR2 RXRB IRF2 SP1 CEBPA SOX13 ZNF140 ETS1 ZCCHC9 CKMT2-AS1 ACOT12 CKMT2 lnc-ACOT12-6 piR-42491-178 RF00017-4771
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACOT12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACOT12

Top Transcription factor binding sites by QIAGEN in the ACOT12 gene promoter:
  • AREB6
  • GATA-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2

Genomic Locations for ACOT12 Gene

Genomic Locations for ACOT12 Gene
chr5:81,309,045-81,394,179
(GRCh38/hg38)
Size:
85,135 bases
Orientation:
Minus strand
chr5:80,625,824-80,689,998
(GRCh37/hg19)
Size:
64,175 bases
Orientation:
Minus strand

Genomic View for ACOT12 Gene

Genes around ACOT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOT12 Gene

Proteins for ACOT12 Gene

  • Protein details for ACOT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYK0-ACO12_HUMAN
    Recommended name:
    Acetyl-coenzyme A thioesterase
    Protein Accession:
    Q8WYK0
    Secondary Accessions:
    • B3KVK9
    • Q5FWE9

    Protein attributes for ACOT12 Gene

    Size:
    555 amino acids
    Molecular mass:
    62034 Da
    Quaternary structure:
    • Homodimer or homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACOT12 Gene

    Alternative splice isoforms for ACOT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACOT12 Gene

Selected DME Specific Peptides for ACOT12 Gene

Q8WYK0:
  • GNTFGGQIMAWME
  • ELVLPPHANH
  • RHINSAF

Post-translational modifications for ACOT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACOT12 Gene

Gene Families for ACOT12 Gene

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

Protein Domains for ACOT12 Gene

Suggested Antigen Peptide Sequences for ACOT12 Gene

GenScript: Design optimal peptide antigens:
  • START domain-containing protein 15 (ACO12_HUMAN)
genes like me logo Genes that share domains with ACOT12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ACOT12 Gene

Function for ACOT12 Gene

Molecular function for ACOT12 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 (PubMed:16951743). Acyl-coenzyme A thioesterase 12/ACOT12 preferentially hydrolyzes acetyl-CoA (PubMed:16951743).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + H2O = acetate + CoA + H(+); Xref=Rhea:RHEA:20289, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=3.1.2.1; Evidence={ECO:0000269|PubMed:16951743};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=butanoyl-CoA + H2O = butanoate + CoA + H(+); Xref=Rhea:RHEA:40111, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371; Evidence={ECO:0000250|UniProtKB:Q99NB7};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexanoyl-CoA = CoA + H(+) + hexanoate; Xref=Rhea:RHEA:40115, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17120, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620; Evidence={ECO:0000250|UniProtKB:Q99NB7};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=150 uM for acetyl-CoA {ECO:0000269|PubMed:16951743}; Note=kcat is 7000 s(-1) for the hydrolysis of acetyl-CoA. {ECO:0000269|PubMed:16951743};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ADP. Active in the presence of ATP (PubMed:16951743). Cold labile, it dissociates into inactive monomers at low temperature (By similarity).

Enzyme Numbers (IUBMB) for ACOT12 Gene

Phenotypes From GWAS Catalog for ACOT12 Gene

Gene Ontology (GO) - Molecular Function for ACOT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA 21873635
GO:0003986 acetyl-CoA hydrolase activity ISS --
GO:0005515 protein binding IPI 28514442
GO:0005524 ATP binding IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with ACOT12: view
genes like me logo Genes that share phenotypes with ACOT12: view

Animal Model Products

CRISPR Products

miRNA for ACOT12 Gene

miRTarBase miRNAs that target ACOT12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOT12

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACOT12 Gene

Localization for ACOT12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOT12 Gene

Cytoplasm, cytosol.

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 ACOT12 gene
Compartment Confidence
cytosol 4
mitochondrion 2
peroxisome 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ACOT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,TAS --
genes like me logo Genes that share ontologies with ACOT12: view

Pathways & Interactions for ACOT12 Gene

genes like me logo Genes that share pathways with ACOT12: view

UniProtKB/Swiss-Prot Q8WYK0-ACO12_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for ACOT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006084 acetyl-CoA metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IBA,IEA --
GO:0006637 acyl-CoA metabolic process ISS,TAS --
genes like me logo Genes that share ontologies with ACOT12: view

No data available for SIGNOR curated interactions for ACOT12 Gene

Drugs & Compounds for ACOT12 Gene

(3) Drugs for ACOT12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Agonist, Full agonist 139
Water Approved Pharma 0
Coenzyme A Investigational Nutra 0

(1) Additional Compounds for ACOT12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
genes like me logo Genes that share compounds with ACOT12: view

Transcripts for ACOT12 Gene

mRNA/cDNA for ACOT12 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 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 ACOT12

Alternative Splicing Database (ASD) splice patterns (SP) for ACOT12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2:

Relevant External Links for ACOT12 Gene

GeneLoc Exon Structure for
ACOT12

Expression for ACOT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACOT12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACOT12 Gene

This gene is overexpressed in Liver (x49.1).

Protein differential expression in normal tissues from HIPED for ACOT12 Gene

This gene is overexpressed in Plasma (35.2), Liver (23.5), and Heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACOT12 Gene



Protein tissue co-expression partners for ACOT12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOT12

SOURCE GeneReport for Unigene cluster for ACOT12 Gene:

Hs.591756

Evidence on tissue expression from TISSUES for ACOT12 Gene

  • Liver(4.5)
genes like me logo Genes that share expression patterns with ACOT12: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOT12 Gene

Orthologs for ACOT12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACOT12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACOT12 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACOT12 30 31
  • 88.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACOT12 30 31
  • 88.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acot12 30 17 31
  • 82.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acot12 30
  • 81.31 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ACOT12 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACOT12 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACOT12 30 31
  • 69.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACOT12 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acot12 30
  • 65.44 (n)
Str.1777 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9815 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100536873 30
  • 60.46 (n)
ACOT12 31
  • 51 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
Species where no ortholog for ACOT12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ACOT12 Gene

ENSEMBL:
Gene Tree for ACOT12 (if available)
TreeFam:
Gene Tree for ACOT12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACOT12: view image

Paralogs for ACOT12 Gene

Paralogs for ACOT12 Gene

(1) SIMAP similar genes for ACOT12 Gene using alignment to 2 proteins:

  • ACO12_HUMAN
  • Q5FWE9_HUMAN
genes like me logo Genes that share paralogs with ACOT12: view

Variants for ACOT12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACOT12 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs10371 - p.Ala403Thr
rs34607174 - p.Val230Ile
VAR_064691 - p.Leu190His

Additional dbSNP identifiers (rs#s) for ACOT12 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACOT12 Gene

Variant ID Type Subtype PubMed ID
esv2661818 CNV deletion 23128226
esv2730381 CNV deletion 23290073
esv3566173 CNV deletion 23714750
esv3570234 CNV loss 25503493
esv3605592 CNV loss 21293372
esv3605593 CNV loss 21293372
nsv1152922 CNV deletion 26484159

Variation tolerance for ACOT12 Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOT12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOT12 Gene

Disorders for ACOT12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACOT12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • cle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACOT12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACOT12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACOT12 Gene

Publications for ACOT12 Gene

  1. Molecular cloning and functional expression of human cytosolic acetyl-CoA hydrolase. (PMID: 16951743) Suematsu N … Isohashi F (Acta biochimica Polonica 2006) 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. (PMID: 16103133) Hunt MC … Alexson SE (Journal of lipid research 2005) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for ACOT12 Gene

Sources for ACOT12 Gene