This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [prov... See more...

Aliases for ACOT7 Gene

Aliases for ACOT7 Gene

  • Acyl-CoA Thioesterase 7 2 3 4 5
  • CTE-II 2 3 4
  • HBACH 2 3 4
  • BACH 2 3 4
  • Cytosolic Acyl Coenzyme A Thioester Hydrolase 3 4
  • Long Chain Acyl-CoA Thioester Hydrolase 3 4
  • Brain Acyl-CoA Hydrolase 3 4
  • EC 3.1.2.2 4 51
  • CTE-IIa 3 4
  • LACH1 2 3
  • ACH1 2 3
  • ACT 2 3
  • Acyl-CoA Thioesterase, Long Chain 3
  • Brain Acyl CoA Hydrolase 2
  • Acyl-CoA Thioesterase 2 3
  • MGC1126 2
  • ACOT7 5
  • LACH 3

External Ids for ACOT7 Gene

Previous GeneCards Identifiers for ACOT7 Gene

  • GC01M006259
  • GC01M006324
  • GC01M005472

Summaries for ACOT7 Gene

Entrez Gene Summary for ACOT7 Gene

  • This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACOT7 Gene

ACOT7 (Acyl-CoA Thioesterase 7) is a Protein Coding gene. Diseases associated with ACOT7 include Temporal Lobe Epilepsy and Hyperinsulinemic Hypoglycemia, Familial, 7. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and fatty-acyl-CoA binding. An important paralog of this gene is ACOT12.

UniProtKB/Swiss-Prot Summary for ACOT7 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:10578051). Acyl-coenzyme A thioesterase 7/ACOT7 preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18 (PubMed:10578051). May play an important physiological function in brain (PubMed:10578051).

Gene Wiki entry for ACOT7 Gene

Additional gene information for ACOT7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACOT7 Gene

Genomics for ACOT7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACOT7 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 ACOT7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACOT7

Top Transcription factor binding sites by QIAGEN in the ACOT7 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for ACOT7 Gene

Genomic Locations for ACOT7 Gene
chr1:6,264,269-6,394,391
(GRCh38/hg38)
Size:
130,123 bases
Orientation:
Minus strand
chr1:6,324,329-6,454,451
(GRCh37/hg19)
Size:
130,123 bases
Orientation:
Minus strand

Genomic View for ACOT7 Gene

Genes around ACOT7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOT7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOT7 Gene

Proteins for ACOT7 Gene

  • Protein details for ACOT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00154-BACH_HUMAN
    Recommended name:
    Cytosolic acyl coenzyme A thioester hydrolase
    Protein Accession:
    O00154
    Secondary Accessions:
    • A8K0K7
    • A8K232
    • A8K6B8
    • A8K837
    • B3KQ12
    • O43703
    • Q53Y78
    • Q5JYL2
    • Q5JYL3
    • Q5JYL4
    • Q5JYL5
    • Q5JYL6
    • Q5TGR4
    • Q9UJM9
    • Q9Y539
    • Q9Y540

    Protein attributes for ACOT7 Gene

    Size:
    380 amino acids
    Molecular mass:
    41796 Da
    Quaternary structure:
    • Homohexamer.
    SequenceCaution:
    • Sequence=AAB61211.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH17365.2; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: Major isoform.

    Three dimensional structures from OCA and Proteopedia for ACOT7 Gene

    Alternative splice isoforms for ACOT7 Gene

neXtProt entry for ACOT7 Gene

Selected DME Specific Peptides for ACOT7 Gene

O00154:
  • AARHCKTN
  • TISGRMTFTSNKS
  • RCVAALARVE
  • EIEVLVDAD

Post-translational modifications for ACOT7 Gene

  • Ubiquitination at Lys157 and Lys283
  • Modification sites at PhosphoSitePlus

Domains & Families for ACOT7 Gene

Gene Families for ACOT7 Gene

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

Protein Domains for ACOT7 Gene

Suggested Antigen Peptide Sequences for ACOT7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60167, highly similar to Cytosolic acyl coenzyme A thioester hydrolase(EC 3.1.2.2) (B4DUX0_HUMAN)
  • Long chain acyl-CoA thioester hydrolase (BACH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00154

UniProtKB/Swiss-Prot:

BACH_HUMAN :
  • Both HotDog ACOT-type hydrolase domains are required for efficient activity.
Domain:
  • Both HotDog ACOT-type hydrolase domains are required for efficient activity.
genes like me logo Genes that share domains with ACOT7: view

Function for ACOT7 Gene

Molecular function for ACOT7 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:10578051). Acyl-coenzyme A thioesterase 7/ACOT7 preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18 (PubMed:10578051). May play an important physiological function in brain (PubMed:10578051).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate; Xref=Rhea:RHEA:16645, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=3.1.2.2; Evidence={ECO:0000269|PubMed:10578051};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + octanoyl-CoA = CoA + H(+) + octanoate; Xref=Rhea:RHEA:30143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25646, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386; Evidence={ECO:0000305|PubMed:10578051};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H2O = CoA + dodecanoate + H(+); Xref=Rhea:RHEA:30135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375; Evidence={ECO:0000305|PubMed:10578051};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+); Xref=Rhea:RHEA:40139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence={ECO:0000305|PubMed:10578051};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + tetradecanoyl-CoA = CoA + H(+) + tetradecanoate; Xref=Rhea:RHEA:40119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385; Evidence={ECO:0000250|UniProtKB:Q64559};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + H2O = CoA + decanoate + H(+); Xref=Rhea:RHEA:40059, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430; Evidence={ECO:0000250|UniProtKB:Q64559};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + octadecanoyl-CoA = CoA + H(+) + octadecanoate; Xref=Rhea:RHEA:30139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394; Evidence={ECO:0000250|UniProtKB:Q64559};.

Enzyme Numbers (IUBMB) for ACOT7 Gene

Phenotypes From GWAS Catalog for ACOT7 Gene

Gene Ontology (GO) - Molecular Function for ACOT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA,IDA 10578051
GO:0005515 protein binding IPI 10578051
GO:0016290 palmitoyl-CoA hydrolase activity IBA,IDA 10578051
GO:0016787 hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity IEA --
genes like me logo Genes that share ontologies with ACOT7: view
genes like me logo Genes that share phenotypes with ACOT7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOT7

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACOT7 Gene

Localization for ACOT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOT7 Gene

[Isoform 4]: Cytoplasm, cytosol.
[Isoform 6]: Cytoplasm, cytosol.
[Isoform 1]: Mitochondrion.
[Isoform 5]: 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 ACOT7 gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 4
nucleus 4
peroxisome 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACOT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ACOT7: view

Pathways & Interactions for ACOT7 Gene

genes like me logo Genes that share pathways with ACOT7: view

UniProtKB/Swiss-Prot O00154-BACH_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for ACOT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IBA 21873635
GO:0006637 acyl-CoA metabolic process TAS --
GO:0015937 coenzyme A biosynthetic process IDA 10578051
GO:0036114 medium-chain fatty-acyl-CoA catabolic process IDA 10578051
genes like me logo Genes that share ontologies with ACOT7: view

No data available for SIGNOR curated interactions for ACOT7 Gene

Drugs & Compounds for ACOT7 Gene

(14) Drugs for ACOT7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docosahexaenoic acid Approved, Investigational Pharma Agonist, Full agonist 0
Gamolenic acid Approved, Investigational Pharma 0
linoleic acid Approved, Experimental Pharma Agonist, Full agonist, Activator, Pore Blocker, Channel blocker 0
oleic acid Approved, Investigational, Vet_approved Pharma Agonist, Full agonist, Activator, Activation 0
Palmitic Acid Approved Pharma Agonist, Full agonist 27

(42) Additional Compounds for ACOT7 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 ACOT7: view

Transcripts for ACOT7 Gene

mRNA/cDNA for ACOT7 Gene

6 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 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 ACOT7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACOT7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - -
SP9: -

Relevant External Links for ACOT7 Gene

GeneLoc Exon Structure for
ACOT7

Expression for ACOT7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACOT7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACOT7 Gene

This gene is overexpressed in Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for ACOT7 Gene

This gene is overexpressed in Frontal cortex (15.8), Brain (12.7), Fetal Brain (12.1), and Spinal cord (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACOT7 Gene



Protein tissue co-expression partners for ACOT7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOT7

SOURCE GeneReport for Unigene cluster for ACOT7 Gene:

Hs.126137

mRNA Expression by UniProt/SwissProt for ACOT7 Gene:

O00154-BACH_HUMAN
Tissue specificity: Isoform 4 is expressed exclusively in brain.

Evidence on tissue expression from TISSUES for ACOT7 Gene

  • Nervous system(4.9)
  • Intestine(4.6)
  • Stomach(4.4)
  • Skin(3.4)
  • Kidney(2.6)
  • Adrenal gland(2.4)
  • Muscle(2.2)
  • Heart(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ACOT7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOT7 Gene

Orthologs for ACOT7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACOT7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACOT7 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACOT7 30 31
  • 89.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acot7 30 17 31
  • 87.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acot7 30
  • 87.8 (n)
Dog
(Canis familiaris)
Mammalia ACOT7 30 31
  • 87.28 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACOT7 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACOT7 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACOT7 30 31
  • 77.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACOT7 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732716 30
  • 71.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii acot7 30 31
  • 74.9 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8265 30
Species where no ortholog for ACOT7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for ACOT7 Gene

ENSEMBL:
Gene Tree for ACOT7 (if available)
TreeFam:
Gene Tree for ACOT7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACOT7: view image

Paralogs for ACOT7 Gene

Paralogs for ACOT7 Gene

(1) SIMAP similar genes for ACOT7 Gene using alignment to 4 proteins:

  • BACH_HUMAN
  • B4DUX0_HUMAN
  • F5GWE2_HUMAN
  • K7EKP8_HUMAN

Pseudogenes.org Pseudogenes for ACOT7 Gene

genes like me logo Genes that share paralogs with ACOT7: view

Variants for ACOT7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACOT7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
775495 Benign: not provided 6,294,895(-) G/A SYNONYMOUS_VARIANT
787202 Benign: not provided 6,281,094(-) G/A INTRON_VARIANT
rs1553155214 Uncertain Significance: not provided 6,281,179(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACOT7 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACOT7 Gene

Variant ID Type Subtype PubMed ID
dgv11e199 CNV deletion 23128226
dgv77n54 CNV loss 21841781
dgv78n54 CNV loss 21841781
dgv79n54 CNV loss 21841781
dgv8n67 CNV gain 20364138
esv21684 CNV loss 19812545
esv24092 CNV loss 19812545
esv2678076 CNV deletion 23128226
esv2678878 CNV deletion 23128226
esv2739695 CNV deletion 23290073
esv2739806 CNV deletion 23290073
esv2739917 CNV deletion 23290073
esv2740028 CNV deletion 23290073
esv3539789 CNV deletion 23714750
esv3585102 CNV loss 21293372
esv3585104 CNV loss 21293372
esv3585105 CNV loss 21293372
esv3585106 CNV loss 21293372
nsv1009548 CNV loss 25217958
nsv1076 CNV deletion 18451855
nsv1113068 CNV deletion 24896259
nsv1118097 CNV deletion 24896259
nsv1119661 CNV deletion 24896259
nsv477455 CNV novel sequence insertion 20440878
nsv508825 CNV insertion 20534489
nsv519253 CNV loss 19592680
nsv521525 CNV loss 19592680
nsv522013 CNV loss 19592680
nsv523989 CNV loss 19592680
nsv526371 CNV loss 19592680
nsv545239 CNV loss 21841781
nsv545240 CNV loss 21841781
nsv545241 CNV loss 21841781
nsv545257 CNV loss 21841781
nsv831425 CNV loss 17160897
nsv965 CNV deletion 18451855

Variation tolerance for ACOT7 Gene

Residual Variation Intolerance Score: 9.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOT7 Gene

Human Gene Mutation Database (HGMD)
ACOT7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOT7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOT7 Gene

Disorders for ACOT7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACOT7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
temporal lobe epilepsy
  • epilepsy, temporal lobe
hyperinsulinemic hypoglycemia, familial, 7
  • hhf7
leukoencephalopathy with vanishing white matter
  • cle
epilepsy
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ACOT7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACOT7

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 ACOT7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACOT7 Gene

Publications for ACOT7 Gene

  1. Purification, molecular cloning, and genomic organization of human brain long-chain acyl-CoA hydrolase. (PMID: 10578051) Yamada J … Suga T (Journal of biochemistry 1999) 2 3 4 23
  2. Human brain acyl-CoA hydrolase isoforms encoded by a single gene. (PMID: 12435388) Yamada J … Suga T (Biochemical and biophysical research communications 2002) 3 4 23
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  5. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C … Stricker BH (Nature genetics 2009) 3 41

Products for ACOT7 Gene

  • Signalway Proteins for ACOT7

Sources for ACOT7 Gene