Aliases for ACOT4 Gene

Aliases for ACOT4 Gene

  • Acyl-CoA Thioesterase 4 2 3 4 5
  • PTE-Ib 2 3 4
  • PTE2B 2 3 4
  • Peroxisomal Acyl Coenzyme A Thioester Hydrolase Ib 3 4
  • Peroxisomal Long-Chain Acyl-CoA Thioesterase Ib 3 4
  • Peroxisomal Succinyl-Coenzyme A Thioesterase 3 4
  • Acyl-Coenzyme A Thioesterase 4 3 4
  • EC 3.1.2.2 4 51
  • PTE-2b 3 4
  • Peroxisomal Acyl-CoA Thioesterase 2B 3
  • EC 3.1.2.3 4
  • FLJ31235 2
  • PTE1B 3
  • ACOT4 5
  • PTEIB 4

External Ids for ACOT4 Gene

Previous GeneCards Identifiers for ACOT4 Gene

  • GC14P073129
  • GC14P074058
  • GC14P054227

Summaries for ACOT4 Gene

GeneCards Summary for ACOT4 Gene

ACOT4 (Acyl-CoA Thioesterase 4) is a Protein Coding gene. Diseases associated with ACOT4 include Septooptic Dysplasia. Among its related pathways are palmitate biosynthesis and Ovarian steroidogenesis. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is ACOT1.

UniProtKB/Swiss-Prot Summary for ACOT4 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:16940157). ACOT4 is a peroxisomal succinyl-coenzyme A thioesterase can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs (PubMed:16940157).

Gene Wiki entry for ACOT4 Gene

Additional gene information for ACOT4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACOT4 Gene

Genomics for ACOT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACOT4 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 ACOT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACOT4

Top Transcription factor binding sites by QIAGEN in the ACOT4 gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • ARP-1
  • Pax-3
  • Pax-5
  • PPAR-alpha

Genomic Locations for ACOT4 Gene

Genomic Locations for ACOT4 Gene
chr14:73,591,706-73,596,496
(GRCh38/hg38)
Size:
4,791 bases
Orientation:
Plus strand
chr14:74,058,410-74,063,200
(GRCh37/hg19)
Size:
4,791 bases
Orientation:
Plus strand

Genomic View for ACOT4 Gene

Genes around ACOT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOT4 Gene

Proteins for ACOT4 Gene

  • Protein details for ACOT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9L9-ACOT4_HUMAN
    Recommended name:
    Peroxisomal succinyl-coenzyme A thioesterase
    Protein Accession:
    Q8N9L9
    Secondary Accessions:
    • Q17RF4
    • Q5BKT6
    • Q86TX0
    • Q86TX1
    • Q96N88

    Protein attributes for ACOT4 Gene

    Size:
    421 amino acids
    Molecular mass:
    46327 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Compared to mouse peroxisomal succinyl-coenzyme A thioesterase/ACOT4, the human enzyme has a broad substrate specificity overlapping the activity of three mouse acyl-coenzyme A thioesterases, providing an explanation for the unexpectedly low number of acyl-coenzyme A thioesterase genes in the human genome.

    Three dimensional structures from OCA and Proteopedia for ACOT4 Gene

neXtProt entry for ACOT4 Gene

Selected DME Specific Peptides for ACOT4 Gene

Q8N9L9:
  • GRVRATLFLPP
  • VELEVLDGH
  • VKGPGIGLLGIS
  • IEPPYFP
  • LRDEKGALFRA
  • PALGGSF

Post-translational modifications for ACOT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACOT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACOT4 Gene

Gene Families for ACOT4 Gene

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

Protein Domains for ACOT4 Gene

InterPro:
Blocks:
  • Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for ACOT4 Gene

GenScript: Design optimal peptide antigens:
  • Peroxisomal long-chain acyl-CoA thioesterase Ib (ACOT4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N9L9

UniProtKB/Swiss-Prot:

ACOT4_HUMAN :
  • Belongs to the C/M/P thioester hydrolase family.
Family:
  • Belongs to the C/M/P thioester hydrolase family.
genes like me logo Genes that share domains with ACOT4: view

Function for ACOT4 Gene

Molecular function for ACOT4 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:16940157). ACOT4 is a peroxisomal succinyl-coenzyme A thioesterase can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs (PubMed:16940157).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + succinyl-CoA = CoA + H(+) + succinate; Xref=Rhea:RHEA:11516, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30031, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292; EC=3.1.2.3; Evidence={ECO:0000269|PubMed:16940157};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glutaryl-CoA + H2O = CoA + glutarate + H(+); Xref=Rhea:RHEA:40575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30921, ChEBI:CHEBI:57287, ChEBI:CHEBI:57378; Evidence={ECO:0000269|PubMed:16940157};.
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:16940157};.
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:0000269|PubMed:16940157};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoyl-CoA + H2O = (9Z,12Z)-octadecadienoate + CoA + H(+); Xref=Rhea:RHEA:40143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383; Evidence={ECO:0000269|PubMed:16940157};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + CoA + H(+); Xref=Rhea:RHEA:40151, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368; Evidence={ECO:0000269|PubMed:16940157};.
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:0000269|PubMed:16940157};.
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:0000269|PubMed:16940157};.
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:0000269|PubMed:16940157};.
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:0000269|PubMed:16940157};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + H2O = CoA + eicosanoate + H(+); Xref=Rhea:RHEA:40147, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32360, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380; Evidence={ECO:0000269|PubMed:16940157};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14 uM for succinyl-CoA {ECO:0000269|PubMed:16940157}; KM=147 uM for glutaryl-CoA {ECO:0000269|PubMed:16940157}; KM=3.4 uM for C14-acyl-CoA {ECO:0000269|PubMed:16940157}; Vmax=581 nmol/min/mg enzyme with succinyl-CoA as substrate {ECO:0000269|PubMed:16940157}; Vmax=132 nmol/min/mg enzyme with glutaryl-CoA as substrate {ECO:0000269|PubMed:16940157}; Vmax=137 nmol/min/mg enzyme with C14-acyl-CoA as substrate {ECO:0000269|PubMed:16940157};

Enzyme Numbers (IUBMB) for ACOT4 Gene

Phenotypes From GWAS Catalog for ACOT4 Gene

Gene Ontology (GO) - Molecular Function for ACOT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004778 succinyl-CoA hydrolase activity IEA,IDA 16141203
GO:0016290 palmitoyl-CoA hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity IEA --
GO:0047617 acyl-CoA hydrolase activity IEA,IDA 16141203
genes like me logo Genes that share ontologies with ACOT4: view
genes like me logo Genes that share phenotypes with ACOT4: view

Animal Models for ACOT4 Gene

MGI Knock Outs for ACOT4:
  • Acot4 Acot4<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ACOT4 Gene

miRTarBase miRNAs that target ACOT4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOT4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACOT4 Gene

Localization for ACOT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOT4 Gene

Peroxisome.

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 ACOT4 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1
cytoskeleton 0

Gene Ontology (GO) - Cellular Components for ACOT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IBA,IDA 16141203
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACOT4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACOT4 Gene

Pathways & Interactions for ACOT4 Gene

genes like me logo Genes that share pathways with ACOT4: view

UniProtKB/Swiss-Prot Q8N9L9-ACOT4_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for ACOT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IDA 16940157
GO:0001676 long-chain fatty acid metabolic process IDA 16940157
GO:0006104 succinyl-CoA metabolic process IDA 16940157
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with ACOT4: view

No data available for SIGNOR curated interactions for ACOT4 Gene

Drugs & Compounds for ACOT4 Gene

(14) Drugs for ACOT4 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

(40) Additional Compounds for ACOT4 Gene - From: HMDB

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 ACOT4: view

Transcripts for ACOT4 Gene

mRNA/cDNA for ACOT4 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 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 ACOT4

Alternative Splicing Database (ASD) splice patterns (SP) for ACOT4 Gene

No ASD Table

Relevant External Links for ACOT4 Gene

GeneLoc Exon Structure for
ACOT4

Expression for ACOT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACOT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACOT4 Gene

This gene is overexpressed in Liver (x8.4) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for ACOT4 Gene

This gene is overexpressed in Heart (39.0), Placenta (11.0), and Testis (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACOT4 Gene



Protein tissue co-expression partners for ACOT4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOT4

SOURCE GeneReport for Unigene cluster for ACOT4 Gene:

Hs.49433

mRNA Expression by UniProt/SwissProt for ACOT4 Gene:

Q8N9L9-ACOT4_HUMAN
Tissue specificity: Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle.

Evidence on tissue expression from TISSUES for ACOT4 Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Nervous system(4.4)
  • Kidney(4.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with ACOT4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOT4 Gene

Orthologs for ACOT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACOT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACOT4 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACOT4 30 31
  • 87.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACOT4 30
  • 86.27 (n)
MGC160092 31
  • 83 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Acot4 30
  • 82.03 (n)
Mouse
(Mus musculus)
Mammalia Acot4 30 17 31
  • 81.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 54 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-11e23.4 31
  • 42 (a)
ManyToMany
zgc:101553 31
  • 31 (a)
ManyToMany
si:dkey-183c16.7 31
  • 30 (a)
ManyToMany
si:dkeyp-89c11.3 31
  • 30 (a)
ManyToMany
si:dkeyp-89c11.1 31
  • 29 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea W03D8.8 31
  • 29 (a)
ManyToMany
K05B2.4 31
  • 27 (a)
ManyToMany
C31H5.6 31
  • 26 (a)
ManyToMany
T05E7.1 31
  • 23 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
Species where no ortholog for ACOT4 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ACOT4 Gene

ENSEMBL:
Gene Tree for ACOT4 (if available)
TreeFam:
Gene Tree for ACOT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACOT4: view image

Paralogs for ACOT4 Gene

Paralogs for ACOT4 Gene

(4) SIMAP similar genes for ACOT4 Gene using alignment to 1 proteins:

  • ACOT4_HUMAN

Pseudogenes.org Pseudogenes for ACOT4 Gene

genes like me logo Genes that share paralogs with ACOT4: view

Variants for ACOT4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACOT4 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs74553611 Uncertain Significance: Intellectual disability 73,593,811(+) T/A SYNONYMOUS_VARIANT
rs77261428 Uncertain Significance: Intellectual disability 73,593,810(+) C/A MISSENSE_VARIANT
rs77814755 Uncertain Significance: Intellectual disability 73,593,813(+) A/G MISSENSE_VARIANT
rs35724886 - p.Ala187Asp
rs3742819 - p.Arg57Cys

Additional dbSNP identifiers (rs#s) for ACOT4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACOT4 Gene

Variant ID Type Subtype PubMed ID
esv2759996 CNV gain 17122850
esv3892561 CNV gain 25118596
esv3892562 CNV gain 25118596
nsv1035460 CNV gain 25217958
nsv1053281 CNV gain 25217958
nsv428295 CNV gain 18775914
nsv832828 CNV gain+loss 17160897

Variation tolerance for ACOT4 Gene

Residual Variation Intolerance Score: 51.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.67; 89.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOT4 Gene

Human Gene Mutation Database (HGMD)
ACOT4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOT4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOT4 Gene

Disorders for ACOT4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACOT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
septooptic dysplasia
  • de morsier syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ACOT4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ACOT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACOT4 Gene

Publications for ACOT4 Gene

  1. Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene clusters shows that convergent, functional evolution results in a reduced number of human peroxisomal ACOTs. (PMID: 16940157) Hunt MC … Alexson SE (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 2 3 4
  2. The identification of a succinyl-CoA thioesterase suggests a novel pathway for succinate production in peroxisomes. (PMID: 16141203) Westin MA … Alexson SE (The Journal of biological chemistry 2005) 3 23
  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 ACOT4 Gene

Sources for ACOT4 Gene