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Aliases for ACOT12 Gene

Aliases for ACOT12 Gene

  • Acyl-CoA Thioesterase 12 2 3 4 5
  • StAR-Related Lipid Transfer (START) Domain Containing 15 2 3
  • Cytoplasmic Acetyl-CoA Hydrolase 1 3 4
  • START Domain-Containing Protein 15 3 4
  • Acyl-CoA Thioester Hydrolase 12 3 4
  • EC 3.1.2.1 4 61
  • STARD15 3 4
  • HCACH-1 3 4
  • CACH-1 3 4
  • Cach 3 4
  • Acyl-Coenzyme A Thioesterase 12 3
  • Cytosolic Acetyl-CoA Hydrolase 3
  • THEAL 3
  • CACH1 4

External Ids for ACOT12 Gene

Previous GeneCards Identifiers for ACOT12 Gene

  • GC05M080662
  • GC05M075834
  • GC05M080625

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 Fatty Acyl-CoA Biosynthesis and Pyruvate metabolism. 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 for ACOT12 Gene

  • Hydrolyzes acetyl-CoA to acetate and CoA.

Gene Wiki entry for ACOT12 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACOT12 Gene

Genomics for ACOT12 Gene

Regulatory Elements for ACOT12 Gene

Enhancers for ACOT12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G081419 1.3 Ensembl ENCODE 11.1 -27.5 -27470 4.9 PKNOX1 FOXA2 ARNT FEZF1 BRCA1 YY1 ZNF302 FOS YY2 TSHZ1 ACOT12 ENSG00000248794 SSBP2 GC05M081414 GC05P081482
GH05G081352 0.9 ENCODE 11.8 +40.2 40185 2.2 HNRNPUL1 FOXA2 ATF1 MLX ARID4B YY1 SLC30A9 MXD4 MIER2 PPARG ACOT12 CKMT2 GC05M081320
GH05G081371 0.9 ENCODE 11.3 +22.5 22513 0.1 ELF3 FOXA2 MLX ZSCAN9 RARA YY1 GATA4 CREM MIXL1 HMG20B ACOT12 GC05M081320
GH05G081425 0.9 Ensembl ENCODE 11 -31.6 -31622 0.4 CTCF ZNF654 ZNF362 TRIM22 ZNF384 REST RAD21 RFX5 SMC3 ACOT12 GC05M081414 GC05P081482
GH05G081409 0.5 FANTOM5 17.3 -15.8 -15779 0.0 ATF3 CEBPB CEBPG YY1 ACOT12 GC05M081414
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACOT12 on UCSC Golden Path with GeneCards custom track

Promoters for ACOT12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000183240 -22 1199 CTCF RNF2 RBBP5 RAD21 YY1 ZNF121 ZNF316 ZNF580 KDM1A HNF4A

Genomic Location for ACOT12 Gene

Chromosome:
5
Start:
81,329,991 bp from pter
End:
81,394,179 bp from pter
Size:
64,189 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:
    Acyl-coenzyme A thioesterase 12
    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

Other Protein References for ACOT12 Gene

Domains & Families for ACOT12 Gene

Protein Domains for ACOT12 Gene

Suggested Antigen Peptide Sequences for ACOT12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ACOT12 Gene

Molecular function for ACOT12 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + H(2)O = CoA + acetate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ADP. Active in the presence of ATP.
UniProtKB/Swiss-Prot Function:
Hydrolyzes acetyl-CoA to acetate and CoA.

Enzyme Numbers (IUBMB) for ACOT12 Gene

Gene Ontology (GO) - Molecular Function for ACOT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003986 acetyl-CoA hydrolase activity ISS --
GO:0005524 ATP binding IEA --
GO:0008289 lipid binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0047617 acyl-CoA hydrolase activity TAS --
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

Clone Products

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.

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
nucleus 2

Gene Ontology (GO) - Cellular Components for ACOT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol 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: Carbohydrate metabolism; pyruvate 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:0006090 pyruvate metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006637 acyl-CoA metabolic process TAS,ISS --
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
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 112
Coenzyme A Nutra 0

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

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

Transcripts for ACOT12 Gene

Unigene Clusters for ACOT12 Gene

Acyl-CoA thioesterase 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ACOT12

Expression for ACOT12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ACOT12 Gene



Protein tissue co-expression partners for ACOT12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACOT12 Gene:

ACOT12

SOURCE GeneReport for Unigene cluster for ACOT12 Gene:

Hs.591756

Evidence on tissue expression from TISSUES for ACOT12 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with ACOT12: view

Primer Products

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 34 35
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia ACOT12 34 35
  • 88.59 (n)
dog
(Canis familiaris)
Mammalia ACOT12 34 35
  • 88.07 (n)
mouse
(Mus musculus)
Mammalia Acot12 34 16 35
  • 82.34 (n)
rat
(Rattus norvegicus)
Mammalia Acot12 34
  • 81.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACOT12 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACOT12 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACOT12 35 34
  • 69.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACOT12 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acot12 34
  • 65.44 (n)
Str.1777 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9815 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536873 34
  • 60.46 (n)
ACOT12 35
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for ACOT12 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)
  • 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 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)

Paralogs for ACOT12 Gene

Paralogs for ACOT12 Gene

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

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

Variants for ACOT12 Gene

Sequence variations from dbSNP and Humsavar for ACOT12 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000061332 -- 81,339,784(+) CATTA(C/T)ACATG intron-variant
rs1000070864 -- 81,345,194(+) CAAAC(A/C)TGTGC intron-variant
rs1000106751 -- 81,386,200(+) AGGTG(C/T)AGCCA intron-variant
rs1000145122 -- 81,388,049(+) TTTAA(C/G)CATGT intron-variant
rs1000220549 -- 81,386,219(+) CATAA(C/T)CAGTA intron-variant

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)

Relevant External Links 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
  • leukoencephaly with vanishing white matter
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ACOT12

Genetic Association Database (GAD)
ACOT12
Human Genome Epidemiology (HuGE) Navigator
ACOT12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACOT12
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 Biochim. Pol. 2006) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. (PMID: 16103133) Hunt M.C. … Alexson S.E. (J. Lipid Res. 2005) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ACOT12 Gene

Sources for ACOT12 Gene

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