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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACSM3 Gene

protein-coding   GIFtS: 59
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and pterygium, and among its related super-pathways are gamma-linolenate biosynthesis II (animals) and Metabolism. GO annotations related to this gene include fatty acid ligase activity and molecular_function. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACSM3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Mitochondrion matrix (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53FZ2

  • 4/15 DME Specific Peptides for ACSM3 (Q53FZ2) (see all 15)
     VAESAVV  APYKYPR  SGYRIGP  GNVLPPG 

    ACSM3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACSM3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005613.2  NP_973729.1  

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

    Human Recombinant Protein Products for ACSM3: 
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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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    ACSM3 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS
     IPR025110 DUF4009

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for ACSM3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSM3:
    hsa-miR-205* hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidACSM3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACSM3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1eicosapentaenoate biosynthesis II (metazoa)
    gamma-linolenate biosynthesis II (animals)0.69
    eicosapentaenoate biosynthesis II (metazoa)0.69
    2Metabolism
    Metabolic pathways0.40
    3Ketone body metabolism
    Butanoate metabolism0.31
    4Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACSM3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/7 Interacting proteins for ACSM3 (Q53FZ23 ENSP000002894164) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSM3

    10/39 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--

    Search CenterWatch for drugs/clinical trials and news about ACSM3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACSM3 gene (2 alternative transcripts): 
    NM_005622.3  NM_202000.2  

    Unigene Cluster for ACSM3:

    Acyl-CoA synthetase medium-chain family member 3
    Hs.706754  [show with all ESTs]
    Unigene Representative Sequence: NM_005622
    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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    hsa-miR-205* hsa-miR-551b*
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    Additional mRNA sequence: 

    AK223139.1 AK290322.1 AK296122.1 BC002790.2 D16350.1 X80062.1 

    10 DOTS entries:

    DT.91742292  DT.91742285  DT.95372062  DT.91881197  DT.120704245  DT.120704251  DT.91818845  DT.120704266 
    DT.120704326  DT.91742286 

    24/97 AceView cDNA sequences (see all 97):

    NM_202000 BX284106 NM_005622 AW803492 BU170035 CB164381 BU633881 BF594326 
    AA336744 BC002790 BI826935 BU683400 D16350 BG696881 BP345802 CD620926 
    AI275815 AW771504 AI632754 BI765407 BG674448 BE384695 BG612966 CD620927 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACSM3 expression in normal human tissues (normalized intensities)      ACSM3 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Small Pre B-Cells Hematopoietic Bone Marrow
             bone marrow cd34+   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
             bone marrow   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot

    See ACSM3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSM3

    SOURCE GeneReport for Unigene cluster: Hs.706754
        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACSM3 gene from 5/12 species (see all 12)    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 69.63(n)
    66.85(a)
      426999  XM_424601.2  XP_424601.2 
    lizard
    (Anolis carolinensis)
    Reptilia ACSM36
    --
    --
    66(a)
    57(a)
    1 ↔ 1
    possible ortholog
    GL343402.1(772080-781442)
    GL343402.1(753168-765768)
    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 CG64326
    --
    18(a)
    1 → many
    3R(20162644-20165919)


    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)
    About This Section
    Paralogs for ACSM3 gene
    C10orf1292  ACSM52  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  ACSS12  
    14 SIMAP similar genes for ACSM3 using alignment to 9 protein entries:     ACSM3_HUMAN (see all proteins):
    A-923A4.2    ACSM4    ACSM5    NSD1    NPIPL3    ACSM2A
    61E3.4    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/291 SNPs in ACSM3 are shown (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
    ----------
    VAR_0352514
    ----see VAR_0352512 K N mis40--------
    VAR_0352504
    ----see VAR_0352502 P T mis40--------
    VAR_0482394
    ----see VAR_0482392 D H mis40--------
    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

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 145505    OMIM disorders: --

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


    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)
    About This Section

    PubMed articles for ACSM3 gene, integrated from 9 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. (2007)
    2. Evaluation of the SA locus in human hypertension. (PubMed id 7843754)1, 2, 3 Nabika T.... Soubrier F. (1995)
    3. Human SA gene locus as a candidate locus for essential hypertension. (PubMed id 7907320)1, 2, 3 Iwai N.... Kinoshita M. (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. (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. (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. (2009)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Association of genetic variants with chronic kidney d isease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6296 HGNC: 10522 AceView: SAH Ensembl:ENSG00000005187 euGenes: HUgn6296
    ECgene: ACSM3 Kegg: 6296 H-InvDB: ACSM3

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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