Aliases for ACSM4 Gene

Aliases for ACSM4 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 4 2 3 5
  • Acyl-Coenzyme A Synthetase ACSM4, Mitochondrial 3 4
  • EC 6.2.1.2 4 51
  • Similar To Olfactory Specific Medium-Chain Acyl CoA Synthetase 2
  • Acyl-CoA Synthetase Medium-Chain Family Member 4 4
  • EC 6.2.1 51
  • ACSM4 5

External Ids for ACSM4 Gene

Previous GeneCards Identifiers for ACSM4 Gene

  • GC12P007349
  • GC12P007456

Summaries for ACSM4 Gene

GeneCards Summary for ACSM4 Gene

ACSM4 (Acyl-CoA Synthetase Medium Chain Family Member 4) is a Protein Coding gene. Diseases associated with ACSM4 include Valproate Embryopathy. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include butyrate-CoA ligase activity and fatty-acyl-CoA synthase activity. An important paralog of this gene is ACSM5.

UniProtKB/Swiss-Prot Summary for ACSM4 Gene

  • Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for C6-12 fatty acids (By similarity).

Additional gene information for ACSM4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSM4 Gene

Genomics for ACSM4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACSM4 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
GH12J007302 Enhancer 0.8 Ensembl 608.2 -1.3 -1283 3.2 JUND PKNOX1 REST ZNF24 BRD9 HDAC1 SOX6 FOXJ2 EP300 ZNF766 ACSM4 piR-36098-004 PEX5
GH12J007368 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 +65.0 64971 1.3 CREB1 JUND MTA1 REST TCF12 POLR2A GABPA YY1 KMT2B MGA lnc-CD163-2 ACSM4 piR-54987-027 CD163L1
GH12J007374 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 +70.3 70340 0.8 CTCF RXRB REST SP1 CEBPA ZNF316 MAFF USF1 YY1 SMC3 ACSM4 piR-53477 lnc-CD163-2 CD163L1
GH12J007240 Enhancer 1 Ensembl ENCODE 6.8 -62.2 -62183 3 LEF1 JUND PHF21A MTA1 REST ZNF24 DPF2 HDAC1 SOX6 TCF12 DPPA3 ACSM4 PEX5 ENSG00000256480 LOC100420983 lnc-PEX5-2 piR-46002-103
GH12J007492 Enhancer 0.6 Ensembl 10.3 +189.3 189317 4 REST SP1 ATF3 YY1 GABPA ZBTB33 JUND NR2F2 RAD21 HNF4A ACSM4 DPPA3 CD163 CD163L1 lnc-APOBEC1-2 NONHSAG010376.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSM4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSM4

Top Transcription factor binding sites by QIAGEN in the ACSM4 gene promoter:
  • AML1a
  • C/EBPalpha
  • ISGF-3
  • LyF-1
  • NF-E2 p45
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ACSM4 Gene

Genomic Locations for ACSM4 Gene
chr12:7,304,284-7,328,724
(GRCh38/hg38)
Size:
24,441 bases
Orientation:
Plus strand
chr12:7,456,880-7,481,320
(GRCh37/hg19)
Size:
24,441 bases
Orientation:
Plus strand

Genomic View for ACSM4 Gene

Genes around ACSM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM4 Gene

Proteins for ACSM4 Gene

  • Protein details for ACSM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7M7-ACSM4_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM4, mitochondrial
    Protein Accession:
    P0C7M7
    Secondary Accessions:
    • A8MTI6

    Protein attributes for ACSM4 Gene

    Size:
    580 amino acids
    Molecular mass:
    65703 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for ACSM4 Gene

Selected DME Specific Peptides for ACSM4 Gene

P0C7M7:
  • LPRIPEWWL
  • SGYRIGP
  • IKPGSMGK
  • LPKTITGKI
  • TAPYKYPRK
  • PTVYRMLVQ
  • GNVLPPG
  • ESAVVSSPD
  • RGEVVKAF
  • LRHCLTGGE
  • SRKAANVL
  • APYKYPR

Post-translational modifications for ACSM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSM4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACSM4 Gene

Gene Families for ACSM4 Gene

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

Protein Domains for ACSM4 Gene

Suggested Antigen Peptide Sequences for ACSM4 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-coenzyme A synthetase ACSM4, mitochondrial (ACSM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C7M7

UniProtKB/Swiss-Prot:

ACSM4_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSM4: view

Function for ACSM4 Gene

Molecular function for ACSM4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for C6-12 fatty acids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:48340, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:59558, ChEBI:CHEBI:90546, ChEBI:CHEBI:456215; EC=6.2.1.2; Evidence={ECO:0000250|UniProtKB:Q7TN78};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + hexanoate = AMP + diphosphate + hexanoyl-CoA; Xref=Rhea:RHEA:43740, ChEBI:CHEBI:17120, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q7TN78};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + octanoate = AMP + diphosphate + octanoyl-CoA; Xref=Rhea:RHEA:33631, ChEBI:CHEBI:25646, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q7TN78};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + decanoate = AMP + decanoyl-CoA + diphosphate; Xref=Rhea:RHEA:33627, ChEBI:CHEBI:27689, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q7TN78};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + dodecanoate = AMP + diphosphate + dodecanoyl-CoA; Xref=Rhea:RHEA:33623, ChEBI:CHEBI:18262, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q7TN78};.

Enzyme Numbers (IUBMB) for ACSM4 Gene

Phenotypes From GWAS Catalog for ACSM4 Gene

Gene Ontology (GO) - Molecular Function for ACSM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IBA 21873635
GO:0004321 fatty-acyl-CoA synthase activity IBA 21873635
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACSM4: view
genes like me logo Genes that share phenotypes with ACSM4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM4

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACSM4 Gene

Localization for ACSM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM4 Gene

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 ACSM4 gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for ACSM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA 21873635
genes like me logo Genes that share ontologies with ACSM4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM4 Gene

Pathways & Interactions for ACSM4 Gene

genes like me logo Genes that share pathways with ACSM4: view

Interacting Proteins for ACSM4 Gene

Gene Ontology (GO) - Biological Process for ACSM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IBA 21873635
GO:0006637 acyl-CoA metabolic process IEA,IBA 21873635
genes like me logo Genes that share ontologies with ACSM4: view

No data available for SIGNOR curated interactions for ACSM4 Gene

Drugs & Compounds for ACSM4 Gene

(11) Drugs for ACSM4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Manganese Approved Nutra 56
Butyric Acid Experimental, Investigational Pharma Agonist, Full agonist 25
Heptanoic acid Experimental, Investigational Pharma 0

(33) Additional Compounds for ACSM4 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 ACSM4: view

Transcripts for ACSM4 Gene

mRNA/cDNA for ACSM4 Gene

1 REFSEQ mRNAs :
2 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 ACSM4

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM4 Gene

No ASD Table

Relevant External Links for ACSM4 Gene

GeneLoc Exon Structure for
ACSM4

Expression for ACSM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACSM4 Gene

mRNA differential expression in normal tissues according to GTEx for ACSM4 Gene

This gene is overexpressed in Testis (x19.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACSM4

SOURCE GeneReport for Unigene cluster for ACSM4 Gene:

Hs.450804
genes like me logo Genes that share expression patterns with ACSM4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSM4 Gene

Orthologs for ACSM4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACSM4 30 31
  • 99.37 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACSM4 31
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ACSM4 30 31
  • 89.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACSM4 30 31
  • 88.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acsm4 30 17 31
  • 86.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acsm4 30
  • 85.9 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ACSM4 30
  • 65.62 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11659 31
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acs-16 31
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
ManyToMany
Species where no ortholog for ACSM4 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)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for ACSM4 Gene

ENSEMBL:
Gene Tree for ACSM4 (if available)
TreeFam:
Gene Tree for ACSM4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSM4: view image

Paralogs for ACSM4 Gene

(7) SIMAP similar genes for ACSM4 Gene using alignment to 1 proteins:

  • ACSM4_HUMAN

Pseudogenes.org Pseudogenes for ACSM4 Gene

genes like me logo Genes that share paralogs with ACSM4: view

Variants for ACSM4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSM4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs61584783 - p.Arg481His

Additional dbSNP identifiers (rs#s) for ACSM4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACSM4 Gene

Variant ID Type Subtype PubMed ID
dgv1349n100 CNV gain 25217958
dgv448e212 CNV gain 25503493
esv3628416 CNV loss 21293372
esv3628417 CNV loss 21293372
nsv832325 CNV gain+loss 17160897

Variation tolerance for ACSM4 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSM4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSM4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM4 Gene

Disorders for ACSM4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSM4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
valproate embryopathy
  • valproate embryopathy, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ACSM4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSM4

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 ACSM4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSM4 Gene

Publications for ACSM4 Gene

  1. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins PA … Pevsner J (Journal of lipid research 2007) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin. (PMID: 27351777) van der Sluis R … Erasmus E (Expert opinion on drug metabolism & toxicology 2016) 4
  4. ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients. (PMID: 23982661) Guzmán-Fulgencio M … Resino S (Journal of acquired immune deficiency syndromes (1999) 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for ACSM4 Gene

Sources for ACSM4 Gene