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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 61
  • SAH 3 4
  • Acyl-Coenzyme A Synthetase ACSM3, Mitochondrial 3
  • SA Hypertension-Associated Homolog (Rat) 2
  • SA Hypertension-Associated Homolog 3
  • EC 6.2.1 61
  • 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 fatty acid beta-oxidation (peroxisome) and Mitochondrial Fatty Acid Beta-Oxidation. GO annotations related to this gene include butyrate-CoA ligase activity and fatty acid ligase activity. An important paralog of this gene is ACSM5.

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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G020896 1.8 FANTOM5 ENCODE dbSUPER 19.3 +292.4 292413 11.5 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 DCUN1D3 ACSM3 THUMPD1 ACSM1 LYRM1 CRYM PIR35456
GH16G020743 1.6 Ensembl ENCODE dbSUPER 21.7 +135.8 135842 4.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZNF766 CBX5 FOS KLF13 CEBPZ THUMPD1 ACSM3 REXO5 ERI2 GC16P020744 ENSG00000260510
GH16G020876 1.4 Ensembl ENCODE dbSUPER 21.3 +269.7 269689 6.3 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A ZNF48 YY1 ZNF121 GATA2 ACSM3 THUMPD1 DCUN1D3 ACSM1 TMEM159 DNAH3 LYRM1 PIR58963
GH16G020864 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +256.3 256258 3.6 PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF48 YY1 TCF12 ZNF121 GATA2 ACSM3 THUMPD1 DCUN1D3 LYRM1 TMEM159 DNAH3 PIR58963
GH16G020909 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +302.2 302179 5.4 TBP HDGF PKNOX1 FOXA2 ZNF766 GATA2 FOS ETV6 EGR2 ZNF362 DCUN1D3 ACSM3 TMEM159 DNAH3 CRYM ACSM1 THUMPD1 LYRM1 PIR35456
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Selected DME Specific Peptides for ACSM3 Gene

Q53FZ2:
  • SGYRIGP
  • ETVLICGNF
  • LDIYEGYGQTET
  • RPFGLFTHYVDNPSKTASTLRG
  • IKPGSMGK
  • TAPYKYPRK
  • PTVYRMLVQ
  • PQNFSNYESMK
  • GNVLPPG
  • DILYRLQ
  • VAESAVV
  • ESAVVSSPD
  • FNFAKDVLDQW
  • RGEVVKAF
  • APYKYPR

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:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IBA --
GO:0004321 fatty-acyl-CoA synthase activity IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

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
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 ACSM3 gene
Compartment Confidence
mitochondrion 3
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS,IBA --
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

Gene Ontology (GO) - Biological Process for ACSM3 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 --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006637 acyl-CoA metabolic process IBA --
genes like me logo Genes that share ontologies with ACSM3: view

No data available for SIGNOR curated interactions for ACSM3 Gene

Drugs & Compounds for ACSM3 Gene

(9) 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 380
Heptanoic acid Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(34) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ACSM3 Gene



Protein tissue co-expression partners for ACSM3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSM3 Gene:

ACSM3

SOURCE GeneReport for Unigene cluster for ACSM3 Gene:

Hs.706754

Evidence on tissue expression from TISSUES for ACSM3 Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Skin(4)
genes like me logo Genes that share expression patterns with ACSM3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ACSM3 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia ACSM3 34 35
  • 89.93 (n)
dog
(Canis familiaris)
Mammalia ACSM3 34 35
  • 89.87 (n)
mouse
(Mus musculus)
Mammalia Acsm3 34 16 35
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Acsm3 34
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ACSM3 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACSM3 34 35
  • 69.24 (n)
lizard
(Anolis carolinensis)
Reptilia ACSM3 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acsm3 34
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii acsm3 34 35
  • 64.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8834 35
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 35
  • 16 (a)
OneToMany
Species where no ortholog for ACSM3 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)
  • 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
rs1000031848 -- 20,764,302(+) AGTGA(G/T)GAGGA intron-variant
rs1000126032 -- 20,773,376(+) TTATT(A/C)TTTCT intron-variant
rs1000296370 -- 20,793,948(+) GGTCT(A/G)TAAGT intron-variant
rs1000342212 -- 20,779,047(+) CGCCC(A/G)GCCTA intron-variant
rs1000344588 -- 20,765,766(+) GTATA(C/T)TTCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1315n106 CNV deletion 24896259
esv1008054 CNV deletion 20482838
esv1388215 CNV deletion 17803354
esv1965812 CNV deletion 18987734
esv2582493 CNV deletion 19546169
esv2664545 CNV deletion 23128226
esv2714064 CNV deletion 23290073
esv2793 CNV loss 18987735
esv3201568 CNV deletion 24192839
esv3553216 CNV deletion 23714750
esv3638156 CNV loss 21293372
esv9416 CNV loss 19470904
nsv1050009 CNV loss 25217958
nsv1070757 CNV deletion 25765185
nsv436835 CNV insertion 17901297
nsv833165 CNV loss 17160897
nsv958185 CNV deletion 24416366

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

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. 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 22 46 64
  2. 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 46 64
  3. Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension. (PMID: 11772874) Iwai N. … Baba S. (Circulation 2002) 3 22 46 64
  4. 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 22 64
  5. Evaluation of the SA locus in human hypertension. (PMID: 7843754) Nabika T. … Soubrier F. (Hypertension 1995) 2 3 4 64

Products for ACSM3 Gene

Sources for ACSM3 Gene

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