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Aliases for ACOT4 Gene

Aliases for ACOT4 Gene

  • Acyl-CoA Thioesterase 4 2 3 4 5
  • Peroxisomal Acyl Coenzyme A Thioester Hydrolase Ib 3 4
  • Peroxisomal Long-Chain Acyl-CoA Thioesterase Ib 3 4
  • PTE-2b 3 4
  • PTE-Ib 3 4
  • PTE2B 3 4
  • Peroxisomal Acyl-CoA Thioesterase 2B 3
  • Acyl-Coenzyme A Thioesterase 4 3
  • EC 3.1.2.2 4
  • PTE1B 3
  • 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 Early-Onset Familial Alzheimer Disease. Among its related pathways are Metabolism and oleate biosynthesis. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is ACOT2.

UniProtKB/Swiss-Prot 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 (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs.

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 , fRNAdb sequence ontologies and piRNA Summary for ACOT4 Gene

Genomics for ACOT4 Gene

GeneHancer (GH) Regulatory Elements for ACOT4 Gene

Promoters and enhancers for ACOT4 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
GH14J073591 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 666.8 +0.3 318 1.2 RB1 SIN3A RAD21 RFX5 YY1 ELK1 ZNF207 ZNF143 HCFC1 ELF1 ACOT4 PIR31448 DCAF4 NUMB LOC100506476 ACOT1 DNAL1 ACOT6
GH14J073611 Enhancer 1.1 Ensembl ENCODE 10.8 +21.0 21046 1.7 ARID4B SIN3A ZNF48 YY1 GTF3C2 GLIS2 ZNF207 RXRA SP5 NFYC ACOT6 LOC100420966 ELMSAN1 ZNF410 RBM25 DCAF4 ACOT4 LOC100506476 GC14P073623
GH14J072848 Enhancer 0.6 dbSUPER 4.4 -742.2 -742234 1 FOXA2 RXRA NR2F1 MAX REST YY1 SP1 ZFHX2 ATF3 EGR1 DPF3 DCAF4 ACOT4 ENSG00000206751 GC14M072854 GC14M072730
GH14J073599 Enhancer 0.3 ENCODE 4.8 +8.0 8026 1.1 ATF4 RNU6-240P ENSG00000223300 PTGR2 LOC100506476 ACOT2 ACOT4 ACOT6
GH14J073602 Enhancer 0.6 ENCODE 0.4 +10.6 10626 0.2 NCOA3 ESRRA DPF2 ELF1 ZNF217 CTBP1 GATA3 JUND RCOR1 ACOT6 ACOT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACOT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACOT4 gene promoter:

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)

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:
    Acyl-coenzyme A thioesterase 4
    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:
    • Human ACOT4 may have acquired the combined activities of mouse ACOT3, ACOT4, and ACOT5.

    Three dimensional structures from OCA and Proteopedia for ACOT4 Gene

neXtProt entry for ACOT4 Gene

Post-translational modifications for ACOT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACOT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACOT4 Gene

Domains & Families for ACOT4 Gene

Gene Families for ACOT4 Gene

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

Suggested Antigen Peptide Sequences for ACOT4 Gene

GenScript: Design optimal peptide antigens:

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 (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs.
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + H(2)O = CoA + palmitate.
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 toward succinyl-CoA {ECO:0000269 PubMed:16940157}; Vmax=132 nmol/min/mg enzyme toward glutaryl-CoA {ECO:0000269 PubMed:16940157}; Vmax=137 nmol/min/mg enzyme toward C14-acyl-CoA {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 IDA 16141203
GO:0005102 signaling receptor binding IPI 20178365
GO:0016290 palmitoyl-CoA hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity IEA --
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

miRNA for ACOT4 Gene

miRTarBase miRNAs that target ACOT4

Clone Products

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 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACOT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA,IEA 16141203
GO:0005782 peroxisomal matrix 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

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:0006631 fatty acid metabolic process IBA --
GO:0006637 acyl-CoA metabolic process IDA,TAS --
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 Full agonist, Agonist 0
Gamolenic acid Approved, Investigational Pharma 0
oleic acid Approved, Investigational, Vet_approved Pharma Full agonist, Agonist, Activation, Activator 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0

(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

(35) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACOT4 Gene

Acyl-CoA thioesterase 4:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ACOT4 Gene

GeneLoc Exon Structure for
ACOT4
ECgene alternative splicing isoforms for
ACOT4

Expression for ACOT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACOT4 Gene:

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(4.4)
  • Intestine(4.3)
  • Kidney(4.2)
  • Nervous system(4.2)
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 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACOT4 34 33
  • 87.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACOT4 33
  • 86.27 (n)
MGC160092 34
  • 83 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acot4 33
  • 82.03 (n)
mouse
(Mus musculus)
Mammalia Acot4 16 34 33
  • 81.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-11e23.4 34
  • 42 (a)
ManyToMany
zgc:101553 34
  • 31 (a)
ManyToMany
si:dkey-183c16.7 34
  • 30 (a)
ManyToMany
si:dkeyp-89c11.3 34
  • 30 (a)
ManyToMany
si:dkeyp-89c11.1 34
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea W03D8.8 34
  • 29 (a)
ManyToMany
K05B2.4 34
  • 27 (a)
ManyToMany
C31H5.6 34
  • 26 (a)
ManyToMany
T05E7.1 34
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
Species where no ortholog for ACOT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for ACOT4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs74553611 likely-pathogenic, Intellectual disability 73,593,811(+) T/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs77261428 likely-pathogenic, Intellectual disability 73,593,810(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs77814755 likely-pathogenic, Intellectual disability 73,593,813(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000172637 -- 73,590,448(+) A/C upstream_transcript_variant
rs1000236440 -- 73,591,535(+) C/T genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

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: HGMD and GeneCards

Disorder Aliases PubMed IDs
early-onset familial alzheimer disease
  • eofad
- elite association - COSMIC cancer census association via MalaCards
Search ACOT4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACOT4

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 58
  2. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. (PMID: 16103133) Hunt MC … Alexson SE (Journal of lipid research 2005) 2 3 58
  3. 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 22 58
  4. 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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ACOT4 Gene

Sources for ACOT4 Gene

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