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Aliases for ACSM3 Gene

Aliases for ACSM3 Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 3 2 3 4 5
  • SA (Rat Hypertension-Associated) Homolog 2 3
  • Middle-Chain Acyl-CoA Synthetase 3 3 4
  • Butyryl-Coenzyme A Synthetase 3 3 4
  • Butyrate--CoA Ligase 3 3 4
  • Protein SA Homolog 3 4
  • EC 6.2.1.2 4 63
  • SAH 3 4
  • SA Hypertension-Associated Homolog (Rat) 2
  • SA Hypertension-Associated Homolog 3
  • EC 6.2.1 63
  • SA 3

External Ids for ACSM3 Gene

Previous HGNC Symbols for ACSM3 Gene

  • SAH

Previous GeneCards Identifiers for ACSM3 Gene

  • GC16P020683
  • GC16P020775
  • GC16P019310

Summaries for ACSM3 Gene

GeneCards Summary for ACSM3 Gene

ACSM3 (Acyl-CoA Synthetase Medium-Chain Family Member 3) is a Protein Coding gene. Diseases associated with ACSM3 include Hypertension, Essential. Among its related pathways are Butanoate metabolism and gamma-linolenate biosynthesis. GO annotations related to this gene include butyrate-CoA ligase activity and fatty acid ligase activity. An important paralog of this gene is ACSM2B.

UniProtKB/Swiss-Prot for ACSM3 Gene

  • Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Gene Wiki entry for ACSM3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM3 Gene

Genomics for ACSM3 Gene

Regulatory Elements for ACSM3 Gene

Enhancers for ACSM3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACSM3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACSM3 Gene

Chromosome:
16
Start:
20,610,243 bp from pter
End:
20,797,581 bp from pter
Size:
187,339 bases
Orientation:
Plus strand

Genomic View for ACSM3 Gene

Genes around ACSM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM3 Gene

Proteins for ACSM3 Gene

  • Protein details for ACSM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53FZ2-ACSM3_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM3, mitochondrial
    Protein Accession:
    Q53FZ2
    Secondary Accessions:
    • O60363
    • Q13732
    • Q15425
    • Q7KYM6
    • Q9BUA2

    Protein attributes for ACSM3 Gene

    Size:
    586 amino acids
    Molecular mass:
    66153 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC31667.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03853.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA56369.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSM3 Gene

Proteomics data for ACSM3 Gene at MOPED

Post-translational modifications for ACSM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACSM3 Gene

Gene Families for ACSM3 Gene

Protein Domains for ACSM3 Gene

Suggested Antigen Peptide Sequences for ACSM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53FZ2

UniProtKB/Swiss-Prot:

ACSM3_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 ACSM3: view

Function for ACSM3 Gene

Molecular function for ACSM3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Enzyme Numbers (IUBMB) for ACSM3 Gene

Gene Ontology (GO) - Molecular Function for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACSM3: view
genes like me logo Genes that share phenotypes with ACSM3: view

Animal Models for ACSM3 Gene

MGI Knock Outs for ACSM3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACSM3

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ACSM3 Gene

Localization for ACSM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACSM3 Gene COMPARTMENTS Subcellular localization image for ACSM3 gene
Compartment Confidence
mitochondrion 3
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ACSM3: view

Pathways & Interactions for ACSM3 Gene

genes like me logo Genes that share pathways with ACSM3: view

Pathways by source for ACSM3 Gene

1 PharmGKB pathway for ACSM3 Gene
2 KEGG pathways for ACSM3 Gene

Gene Ontology (GO) - Biological Process for ACSM3 Gene

None

No data available for SIGNOR curated interactions for ACSM3 Gene

Drugs & Compounds for ACSM3 Gene

(10) Drugs for ACSM3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
butyric acid Experimental Pharma Full agonist, Agonist 348
Diphosphate Experimental Pharma 0
Heptanoic acid Experimental Pharma 0

(33) Additional Compounds for ACSM3 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACSM3: view

Transcripts for ACSM3 Gene

Unigene Clusters for ACSM3 Gene

Acyl-CoA synthetase medium-chain family member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM3 Gene

No ASD Table

Relevant External Links for ACSM3 Gene

GeneLoc Exon Structure for
ACSM3
ECgene alternative splicing isoforms for
ACSM3

Expression for ACSM3 Gene

mRNA expression in normal human tissues for ACSM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSM3 Gene

This gene is overexpressed in Ovary (x11.0), Liver (x6.1), and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for ACSM3 Gene

This gene is overexpressed in Gallbladder (30.2), Liver (18.8), and Kidney (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACSM3 Gene



SOURCE GeneReport for Unigene cluster for ACSM3 Gene Hs.706754

genes like me logo Genes that share expression patterns with ACSM3: view

Protein tissue co-expression partners for ACSM3 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ACSM3 Gene

Orthologs for ACSM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACSM3 35
  • 89.93 (n)
  • 88.95 (a)
ACSM3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACSM3 35
  • 89.87 (n)
  • 87.91 (a)
ACSM3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acsm3 35
  • 86.77 (n)
  • 86.66 (a)
Acsm3 16
Acsm3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACSM3 35
  • 99.43 (n)
  • 98.98 (a)
ACSM3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsm3 35
  • 86.19 (n)
  • 84.92 (a)
oppossum
(Monodelphis domestica)
Mammalia ACSM3 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACSM3 35
  • 69.24 (n)
  • 66.31 (a)
ACSM3 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSM3 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acsm3 35
  • 68.62 (n)
  • 67.36 (a)
zebrafish
(Danio rerio)
Actinopterygii acsm3 35
  • 64.91 (n)
  • 66.97 (a)
acsm3 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8834 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 36
  • 16 (a)
OneToMany
Species with no ortholog for ACSM3:
  • 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)
  • 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 squirt (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)

Evolution for ACSM3 Gene

ENSEMBL:
Gene Tree for ACSM3 (if available)
TreeFam:
Gene Tree for ACSM3 (if available)

Paralogs for ACSM3 Gene

Paralogs for ACSM3 Gene

genes like me logo Genes that share paralogs with ACSM3: view

Variants for ACSM3 Gene

Sequence variations from dbSNP and Humsavar for ACSM3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs5713 - 20,775,918(+) GGAAC(C/T)GGGAT nc-transcript-variant, reference, missense
VAR_035250 -
VAR_035251 -
VAR_048239 -
rs5709 -- 20,763,890(+) AAGAG(G/T)AACCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ACSM3 Gene

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv833165 CNV Loss 17160897
esv2582493 CNV Deletion 19546169
esv1965812 CNV Deletion 18987734
esv2793 CNV Deletion 18987735
esv2714064 CNV Deletion 23290073
esv2664545 CNV Deletion 23128226
esv1008054 CNV Deletion 20482838
esv1388215 CNV Deletion 17803354
esv9416 CNV Loss 19470904

Variation tolerance for ACSM3 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSM3 Gene

Human Gene Mutation Database (HGMD)
ACSM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM3 Gene

Disorders for ACSM3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSM3 Gene - From: OMIM

Disorder Aliases PubMed IDs
hypertension, essential
  • hypertension, essential 3
- elite association - COSMIC cancer census association via MalaCards
Search ACSM3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACSM3

Genetic Association Database (GAD)
ACSM3
Human Genome Epidemiology (HuGE) Navigator
ACSM3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSM3
genes like me logo Genes that share disorders with ACSM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSM3 Gene

Publications for ACSM3 Gene

  1. SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study. (PMID: 17278971) Telgmann R. … Brand-Herrmann S.-M. (J. Hypertens. 2007) 3 4 48 67
  2. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. (PMID: 11470804) Fujino T. … Yamamoto T.T. (J. Biol. Chem. 2001) 2 3 23
  3. Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: a pilot study. (PMID: 19108963) Lin M.W. … Ho L.T. (Maturitas 2009) 3 23
  4. Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension. (PMID: 11772874) Iwai N. … Baba S. (Circulation 2002) 3 23
  5. Evaluation of the SA locus in human hypertension. (PMID: 7843754) Nabika T. … Soubrier F. (Hypertension 1995) 2 3

Products for ACSM3 Gene

Sources for ACSM3 Gene

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