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ACSM3 Gene

protein-coding   GIFtS: 55
GCID: GC16P020683

Acyl-CoA Synthetase Medium-Chain Family Member 3

(Previous names: SA (rat hypertension-associated) homolog, SA hypertension-associated...)
(Previous symbol: SAH)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Synthetase Medium-Chain Family Member 31 2 3     EC 6.2.1.23 8
SAH1 2 3 5     SA Hypertension-Associated Homolog (Rat)1
SA (Rat Hypertension-Associated) Homolog1 2     SA2
Butyrate--CoA Ligase 32 3     Acyl-Coenzyme A Synthetase ACSM3, Mitochondrial2
Butyryl-Coenzyme A Synthetase 32 3     SA Hypertension-Associated Homolog2
Middle-Chain Acyl-CoA Synthetase 32 3     EC 6.2.18
Protein SA Homolog2 3     

External Ids:    HGNC: 105221   Entrez Gene: 62962   Ensembl: ENSG000000051877   OMIM: 1455055   UniProtKB: Q53FZ23   

Export aliases for ACSM3 gene to outside databases

Previous GC identifers: GC16P020775 GC16P019310


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACSM3 Gene:
ACSM3 (acyl-CoA synthetase medium-chain family member 3) is a protein-coding gene. Diseases associated with ACSM3 include essential hypertension, and hypertension. GO annotations related to this gene include fatty acid ligase activity and butyrate-CoA ligase activity. An important paralog of this gene is C10orf129.

UniProtKB/Swiss-Prot: ACSM3_HUMAN, Q53FZ2
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)

Gene Wiki entry for ACSM3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ACSM3 gene promoter:
         STAT1   p53   ATF-2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSM3 promoter sequence
   Search Chromatin IP Primers for ACSM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSM3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p13.11

ACSM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSM3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P020683:  view genomic region     (about GC identifiers)

Start:
20,621,565 bp from pter      End:
20,808,903 bp from pter
Size:
187,339 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACSM3_HUMAN, Q53FZ2 (See protein sequence)
Recommended Name: Acyl-coenzyme A synthetase ACSM3, mitochondrial precursor  
Size: 586 amino acids; 66153 Da
Cofactor: Magnesium (By similarity)
Caution: It is uncertain whether Met-1 or Met-9 is the initiator
Sequence caution: Sequence=AAC31667.1; Type=Erroneous initiation; Sequence=BAA03853.1; Type=Erroneous initiation;
Sequence=CAA56369.1; Type=Erroneous initiation;
Secondary accessions: O60363 Q13732 Q15425 Q7KYM6 Q9BUA2
Alternative splicing: 2 isoforms:  Q53FZ2-1   Q53FZ2-2   

Explore the universe of human proteins at neXtProt for ACSM3: NX_Q53FZ2

Explore proteomics data for ACSM3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSM3 (Q53FZ2) (see all 15)
     VAESAVV  APYKYPR  SGYRIGP  GNVLPPG 


    See ACSM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005613.2  NP_973729.1  

    ENSEMBL proteins: 
     ENSP00000457003   ENSP00000456055   ENSP00000457158   ENSP00000289416   ENSP00000394565  
     ENSP00000458068   ENSP00000456767   ENSP00000457926   ENSP00000457608   ENSP00000395297  

    ACSM3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ACSM3
    OriGene Custom MassSpec
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    Novus Biologicals ACSM3 Protein
    Novus Biologicals ACSM3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSM3

    ACSM3 Antibody Products:

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    ThermoFisher Antibodies for ACSM3
    LSBio Antibodies in human, mouse, rat for ACSM3

    ACSM3 Assay Products:

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    Cloud-Clone Corp. ELISAs for ACSM3
    Cloud-Clone Corp. CLIAs for ACSM3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACS: Acyl-CoA synthetase family

    3 InterPro protein domains:
     IPR025110 AMP-bd_C
     IPR020845 AMP-binding_CS
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q53FZ2

    ProtoNet protein and cluster: Q53FZ2

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSM3_HUMAN, Q53FZ2
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    ACSM3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACSM3_HUMAN, Q53FZ2
    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)
    Catalytic activity: ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA

         Enzyme Numbers (IUBMB): EC 6.2.1.21 2 EC 6.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0015645fatty acid ligase activity IEA--
    GO:0046872metal ion binding IEA--
         
    ACSM3 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Acsm3):
     normal 

    ACSM3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACSM3: Acsm3tm1Lex Acsm3tm1Njs

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACSM3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACSM3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSM3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSM3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ACSM3 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ACSM3:
    hsa-miR-205* hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidACSM3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACSM3
    Predesigned siRNA for gene silencing in human, mouse, rat ACSM3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACSM3

    Clone
    Products:
         
    OriGene clones in human, mouse for ACSM3 (see all 13)
    OriGene ORF clones in mouse, rat for ACSM3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACSM3 (NM_005622)
    Sino Biological Human cDNA Clone for ACSM3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSM3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ACSM3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACSM3_HUMAN, Q53FZ2: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix IEA--

    ACSM3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACSM3 About    
    See pathways by source

    SuperPathContained pathways About
    1stearate biosynthesis I (animals)
    gamma-linolenate biosynthesis II (animals)0.35
    eicosapentaenoate biosynthesis II (metazoa)0.00
    2Metabolism
    Metabolic pathways0.38
    3Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics
    4Butanoate metabolism
    Butanoate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACSM3
        gamma-linolenate biosynthesis II (animals)
    eicosapentaenoate biosynthesis II (metazoa)


    1 PharmGKB Pathway for ACSM3
        Valproic Acid Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for ACSM3):
        Butanoate metabolism
    Metabolic pathways


    ACSM3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACSM3: 
              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACSM3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ACSM3 (Q53FZ23 ENSP000002894164) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227333Q96KQ73, ENSP000003973234I2D: score=1 STRING: ENSP00000397323
    EHMT2Q96KQ73I2D: score=1 
    ENSG00000206376Q96KQ73I2D: score=1 
    ENSG00000232045Q96KQ73I2D: score=1 
    ENSG00000236759Q96KQ73I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0008217regulation of blood pressure NAS7907320
    GO:0042632cholesterol homeostasis NAS15361761

    ACSM3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACSM3

    Selected HMDB Compounds for ACSM3 (see all 39)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACSM3 gene (2 alternative transcripts): 
    NM_005622.3  NM_202000.2  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568235 ENST00000501740 ENST00000561584 ENST00000564701 ENST00000289416(uc002dhr.3 uc010vba.2)
    ENST00000440284(uc002dhq.3) ENST00000561795 ENST00000562251 ENST00000563914
    ENST00000567387 ENST00000561499 ENST00000569141 ENST00000567711 ENST00000567006
    ENST00000450120
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ACSM3:
    hsa-miR-205* hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidACSM3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACSM3
    Predesigned siRNA for gene silencing in human, mouse, rat ACSM3
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACSM3 (NM_005622)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACSM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSM3
      QuantiTect SYBR Green Assays in human, mouse, rat ACSM3
      QuantiFast Probe-based Assays in human, mouse, rat ACSM3

    Selected AceView cDNA sequences (see all 97):

    BU170035 BU633881 AA336744 BF594326 NM_005622 BC002790 CB164381 BX284106 
    NM_202000 AW803492 X80062 BE384695 BG612966 BI826935 BX436412 BU683400 
    CD620927 BX485171 BG674448 BV199231 BI770558 CA425752 BG696719 AI275815 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACSM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACSM3 Expression
    About this image


    ACSM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
    ACSM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSM3 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACSM3: 
              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACSM3
    OriGene qSTAR qPCR primer pairs in human, mouse for ACSM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSM3
    QuantiTect SYBR Green Assays in human, mouse, rat ACSM3
    QuantiFast Probe-based Assays in human, mouse, rat ACSM3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACSM3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsm31 , 5 acyl-CoA synthetase medium-chain family member 31, 5 86.77(n)1
    86.66(a)1
      7 (64.17 cM)5
    202161  NM_016870.31  NP_058566.31 
     1197609235 
    chicken
    (Gallus gallus)
    Aves ACSM31 acyl-CoA synthetase medium-chain family member 3 69.24(n)
    66.31(a)
      426999  XM_424601.3  XP_424601.2 
    lizard
    (Anolis carolinensis)
    Reptilia ACSM36
    acyl-CoA synthetase medium-chain family member 3
    66(a)
    1 ↔ 1
    GL343402.1(772080-781442)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia acsm31 acyl-CoA synthetase medium-chain family member 3 68.62(n)
    67.36(a)
      100491087  XM_002931983.2  XP_002932029.2 
    zebrafish
    (Danio rerio)
    Actinopterygii acsm31 acyl-CoA synthetase medium-chain family member 3 64.91(n)
    66.97(a)
      100002035  NM_001111236.1  NP_001104706.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG88346
    --
    20(a)
    many ↔ many
    2R(8307316-8310040)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-166
    Protein ACS-16 (acs-16) mRNA, complete cds
    16(a)
    1 → many
    I(1471297-1479924) WBGene00018579


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSM3 gene
    C10orf1292  ACSM52  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  ACSS12  
    ACSF22  
    15 SIMAP similar genes for ACSM3 using alignment to 9 protein entries:     ACSM3_HUMAN (see all proteins):
    A-923A4.2    ECD    ACSM4    ACSM5    NSD1    NPIPB3
    ACSM2A    NPIPB5    CNOT2    ACSM2B    C10orf129    ACSM6
    LRTOMT    ACSM1    PSD3

    ACSM3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACSM3 (see all 291)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1844283681,2
    --20773340(+) CCAATA/GTATAA 2 -- us2k10--------
    rs801894631,2
    C,F--20773348(+) TAAAAC/TGCAAA 2 -- us2k11Minor allele frequency- T:0.12WA 118
    rs745439191,2
    C--20773406(+) CCCTCT/CTCCTT 2 -- us2k12Minor allele frequency- C:0.14CSA WA 120
    rs1494204641,2
    --20773545(+) GATCCA/GTATGG 2 -- us2k10--------
    rs666477151,2
    C,F--20773562(+) CACTGC/TTAACA 2 -- us2k17Minor allele frequency- T:0.12NA WA CSA EA 365
    rs2012504681,2
    --20773593(+) AGTAG-/AAAAAA 2 -- us2k10--------
    rs740118711,2
    C,F--20773736(+) AAAAGA/CAAAAA 2 -- us2k12Minor allele frequency- C:0.26WA 120
    rs116459691,2
    C,F,H--20773764(+) gacctG/Atgaaa 2 -- us2k125Minor allele frequency- A:0.14NS EA NA WA CSA 2747
    rs1894803081,2
    --20773936(+) GTTCAA/GTATTA 2 -- us2k10--------
    rs1437736591,2
    --20774203(+) GCTCTC/TATCAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACSM3 (20621565 - 20808903 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ACSM3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1965812CNV Deletion18987734
    esv1008054CNV Deletion20482838
    esv2714064CNV Deletion23290073
    esv1388215CNV Deletion17803354
    esv2582493CNV Deletion19546169
    esv2664545CNV Deletion23128226
    esv2793CNV Deletion18987735
    nsv436835CNV Insertion17901297
    nsv833165CNV Loss17160897
    esv9416CNV Loss19470904

    Human Gene Mutation Database (HGMD): ACSM3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSM3
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 145505    OMIM disorders: --

    9 diseases for ACSM3:    
    About MalaCards
    essential hypertension    hypertension    pterygium    hypertriglyceridemia
    ulcerative colitis    crohn's disease    insulin resistance    obesity
    kidney disease


    ACSM3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACSM3
    Human Genome Epidemiology (HuGE) Navigator: ACSM3 (19 documents)

    Export disorders for ACSM3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACSM3 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with ACSM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study. (PubMed id 17278971)1, 2, 4 Telgmann R.... Brand-Herrmann S.-M. (J. Hypertens. 2007)
    2. Evaluation of the SA locus in human hypertension. (PubMed id 7843754)1, 2, 3 Nabika T.... Soubrier F. (Hypertension 1995)
    3. Human SA gene locus as a candidate locus for essential hypertension. (PubMed id 7907320)1, 2, 3 Iwai N.... Kinoshita M. (Hypertension 1994)
    4. Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension. (PubMed id 11772874)1, 4, 9 Iwai N....Baba S. (Circulation 2002)
    5. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. (PubMed id 11470804)1, 3, 9 Fujino T.... Yamamoto T.T. (J. Biol. Chem. 2001)
    6. Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: a pilot study. (PubMed id 19108963)1, 4, 9 Lin M.W....Ho L.T. (Maturitas 2009)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6296 HGNC: 10522 AceView: SAH Ensembl:ENSG00000005187 euGenes: HUgn6296
    ECgene: ACSM3 Kegg: 6296 H-InvDB: ACSM3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACSM3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ACSM3 gene:
    Search GeneIP for patents involving ACSM3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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