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

ACSM1 Gene

protein-coding   GIFtS: 57
GCID: GC16M020634

acyl-CoA synthetase medium-chain family member 1

(Previous name: butyryl Coenzyme A synthetase 1 )
(Previous symbol: BUCS1)
 Explore 9 diseases affiliated with
ACSM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACSM1    

Aliases
for ACSM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Acyl-CoA Synthetase Medium-Chain Family Member 11 2 3     Middle-Chain Acyl-CoA Synthetase 12 3
BUCS11 2 3     EC 6.2.1.23 8
MACS11 2 3     Acyl-Coenzyme A Synthetase ACSM1, Mitochondrial2
Butyryl Coenzyme A Synthetase 11 2     Butyrate CoA Ligase2
Butyrate--CoA Ligase 12 3     Medium-Chain Acyl-CoA Synthetase2
Butyryl-Coenzyme A Synthetase 12 3     LAE3
Lipoate-Activating Enzyme2 3     EC 6.2.18

External Ids:    HGNC: 180491   Entrez Gene: 1162852   Ensembl: ENSG000001667437   OMIM: 6143575   UniProtKB: Q08AH13   

Export aliases for ACSM1 gene to outside databases

Previous GC identifers: GC16M020543 GC16M019170


Summaries
for ACSM1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: ACSM1_HUMAN, Q08AH1
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). Functions as
GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity)




Genomic Views
for ACSM1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACSM1 gene promoter:
         PPAR-gamma1   POU2F1   POU2F1a   Lmo2   PPAR-gamma2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACSM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACSM1


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

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

ACSM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSM1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020634:  view genomic region     (about GC identifiers)

Start:
 20,634,559 bp from pter      End:
 20,710,212 bp from pter
Size:
 75,654 bases      Orientation:
 minus strand

Proteins
for ACSM1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ACSM1_HUMAN, Q08AH1 (See protein sequence)
Recommended Name: Acyl-coenzyme A synthetase ACSM1, mitochondrial precursor  
Size: 577 amino acids; 65273 Da
Cofactor: Magnesium (By similarity)
Subunit: Monomer (By similarity)
Subcellular location: Mitochondrion matrix (By similarity)
Secondary accessions: Q08AH2 Q96A20
Alternative splicing: 2 isoforms:  Q08AH1-1   Q08AH1-2   

Explore the universe of human proteins at neXtProt for ACSM1: NX_Q08AH1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08AH1

    • 4/8 DME Specific Peptides for ACSM1 (Q08AH1) (see all 8)
     VAESAVV  APYKYPR  SGYRIGP  DILYRLQ 

    ACSM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_443188.2  
    ENSEMBL proteins: 
     ENSP00000301956   ENSP00000428650   ENSP00000428098   ENSP00000428047   ENSP00000428830  
     ENSP00000219151  
    Reactome Protein details: Q08AH1
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: ACSM1
    OriGene Custom Protein Services for ACSM1 
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    Novus Biologicals ACSM1 Protein
    Novus Biologicals ACSM1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ACSM1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--


    ACSM1 for ontologies           About GeneDecksing



    ACSM1 Antibody Products: 
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    Uscn Antibodies for ACSM1
    ThermoFisher Antibodies for ACSM1

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    Uscn ELISAs and CLIAs for ACSM1

    Protein Domains /
    Families
    for ACSM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACSM1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q08AH1

    ProtoNet protein and cluster: Q08AH1

    1 Blocks protein family: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSM1_HUMAN, Q08AH1
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    Function
    for ACSM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ACSM1_HUMAN, Q08AH1
    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). Functions as
    GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity)
    Catalytic activity: ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA
    Catalytic activity: GTP + lipoate = diphosphate + lipoyl-GMP

    Enzyme Numbers (IUBMB): EC 6.2.1.21 2 EC 6.2.12

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACSM1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ACSM1
    SwitchGear 3'UTR luciferase reporter plasmid: ACSM1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACSM1 (see all 4)
    OriGene shRNA RFP: ACSM1
    OriGene siRNA: ACSM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACSM1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ACSM1

    Clone
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    GenScript: all cDNA clones in your preferred vector: ACSM1 (NM_052956)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSM1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ACSM1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003996acyl-CoA ligase activity IDA11470804
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
    GO:0015645fatty acid ligase activity IEA--


    ACSM1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ACSM1:
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for ACSM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino Acid conjugation
    		Conjugation of carboxylic acids1.00
    		Conjugation of benzoate with glycine1.00
    		Amino Acid conjugation1.00
    		Conjugation of phenylacetate with glutamine0.67
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3eicosapentaenoate biosynthesis II (metazoa)
    		eicosapentaenoate biosynthesis II (metazoa)1.00
    		gamma-linolenate biosynthesis II (animals)0.69
    4Biological oxidations
    		Biological oxidations1.00
    		Phase II conjugation0.52
    5Valproic Acid Pathway, Pharmacokinetics
    		Valproic Acid Pathway, Pharmacokinetics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for ACSM1 
        gamma-linolenate biosynthesis II (animals)
    eicosapentaenoate biosynthesis II (metazoa)

    5/7        Reactome Pathways for ACSM1 (see all 7)
        Conjugation of carboxylic acids
    Conjugation of phenylacetate with glutamine
    Conjugation of benzoate with glycine
    Metabolism
    Biological oxidations

    1 PharmGKB Pathway for ACSM1
        Valproic Acid Pathway, Pharmacokinetics

    2         Kegg Pathways  (Kegg details for ACSM1):
        Butanoate metabolism
    Metabolic pathways


    ACSM1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSM1

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

    2 Interacting proteins for ACSM1 (ENSP000003019564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACADSENSP000002425924STRING: ENSP00000242592
    GLYATENSP000003402004STRING: ENSP00000340200
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0015980energy derivation by oxidation of organic compounds NAS11470804
    GO:0018874benzoate metabolic process NAS11470804
    GO:0019395fatty acid oxidation NAS11470804


    ACSM1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACSM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACSM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSM1

    10/46 HMDB Compounds for ACSM1 (see all 46)    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--
    2 Novoseek chemical compound relationships for ACSM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 76.7 5 12616642 (1), 11470804 (1), 16801219 (1), 18632593 (1)
    fatty acid 43.5 2 15361761 (1), 11470804 (1)

    Search CenterWatch for drugs/clinical trials and news about ACSM1 

    Transcripts
    for ACSM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ACSM1 gene: 
    NM_052956.2  

    Unigene Cluster for ACSM1:

    Acyl-CoA synthetase medium-chain family member 1
    Hs.306812  [show with all ESTs]
    Unigene Representative Sequence: NM_052956
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519031 ENST00000307493(uc002dhm.1 uc002dhn.1 uc010bwg.1)
    ENST00000519745 ENST00000524149 ENST00000520010 ENST00000523065 ENST00000219151


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACSM1
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    SwitchGear 3'UTR luciferase reporter plasmid: ACSM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACSM1 (see all 4)
    OriGene shRNA RFP: ACSM1
    OriGene siRNA: ACSM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACSM1
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACSM1

    Additional cDNA sequence: 

    AB059429.1 AK092574.1 AK314282.1 BC125177.1 BC125178.1 

    3 DOTS entries:

    DT.100779659  DT.403765  DT.100779662 

    17 AceView cDNA sequences:

    AX747606 BX281501 AK092574 BF858579 BX283070 BV170951 NM_052956 AB059429 
    AA677577 AI768624 AA431811 AI140468 AA431407 BQ372939 AW366447 BQ301325 
    AW390302 

    GeneLoc Exon Structure


    Expression
    for ACSM1 gene

    (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

    ACSM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTCCAATGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACSM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyProximal TubuleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACSM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSM1

    SOURCE GeneReport for Unigene cluster: Hs.306812
        SABiosciences Expression via Pathway-Focused PCR Array including ACSM1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM1

    Orthologs
    for ACSM1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ACSM1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    zebrafish
    (Danio rerio)    		 Actinopterygii acsm36
    		 acyl-CoA synthetase medium-chain family member 3
    		 50(a)
    		 1 → many
    		 2(44787051-44808224)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G489906
    		 AMP-dependent synthetase and ligase-like protein
    		 21(a)
    		 possible ortholog
    		 3(18158747-18161379)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 AMP-binding domain containing protein, expressed
    		 20(a)
    		 possible ortholog
    		 4(34723331-34725551)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria aas6
    		 fused 2-acylglycerophospho-ethanolamine acyl trans...
    		 12(a)
    		 possible ortholog
    		 Chromosome(2971877-2974036)


    ENSEMBL Gene Tree for ACSM1 (if available)
    TreeFam Gene Tree for ACSM1 (if available) 

    Paralogs
    for ACSM1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACSM1 gene
    C10orf1292  ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM42  ACSS32  ACSM2B2  
    ACSF22  ACSS12  
    10 SIMAP similar genes for ACSM1 using alignment to 3 protein entries:     ACSM1_HUMAN (see all proteins):
    A-923A4.2    61E3.4    C10orf129    ACSM2A    ACSM2B    ACSM5
    ACSM4    ACSM6    ACSM3    DKFZp666B209

    ACSM1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ACSM1
    PGOHUM00000258490 PGOHUM00000246389


    Genomic Variants
    for ACSM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1301 NCBI SNPs in ACSM1 are shown (see all 1301)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs47834101,2
    		C,F,H,--20634309(+) CCCTGG/AACATC 1 -- ds50019Minor allele frequency- A:0.10NS EA WA CSA NA 779
    rs1859444781,2
    		--20634359(+) GGGCAC/GGTGCC 1 -- ds50010--------
    rs593910201,2
    		F,--20634396(+) TACCCC/TTGTGT 1 -- ds50011Minor allele frequency- T:0.06WA 118
    rs777795591,2
    		C,--20634427(+) TAGGTA/C/TACCCT 1 -- ds50010--------
    rs30878121,2
    		C,F,O,A,H,--20634775(+) TGCCTT/CAGGTG 1 -- ut31 ese333Minor allele frequency- C:0.36EA MN NA NS WA CSA 4833
    rs1494359841,2
    		--20634845(+) CCTTCC/TGTTCA 2 Q R mis10--------
    rs1426950371,2
    		F--20634851(+) GTTCAA/GTCTTG 2 T I mis11Minor allele frequency- G:0.00NA 4550
    rs2012524611,2
    		--20634868(+) ATGGTC/TTTTGG 2 K syn10--------
    rs2004997401,2
    		--20634933(+) AGTCCC/TGCTGC 1 -- int10--------
    rs18459181,2
    		C,F,H,--20635116(+) GTGAAG/ACATGT 1 -- int18Minor allele frequency- A:0.02NS EA NA 544

    HapMap Linkage Disequilibrium report for ACSM1 (20634559 - 20710212 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACSM1
         1 Indel: 49675

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    Disorders / Diseases
    for ACSM1 gene

    (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.)
    About This Section
    ACSM1 for disorders           About GeneDecksing

    OMIM gene information: 614357    OMIM disorders: --

    9 diseases for ACSM1:    About MalaCards
    apocrine adenocarcinoma    essential hypertension    hypertrophy of breast    hypertension
    breast carcinoma    cholesterol    schizophrenia    adenocarcinoma
    carcinoma

    Genetic Association Database (GAD): ACSM1
    Human Genome Epidemiology (HuGE) Navigator: ACSM1 (7 documents)

    Export disorders for ACSM1 gene to outside databases

    Publications
    for ACSM1 gene

    (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 ACSM1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with ACSM1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. (PubMed id 11470804)1, 2, 3, 9 Fujino T....Yamamoto T.T. (2001)
    2. Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension. (PubMed id 15361761)1, 4, 9 Haketa A....Matsumoto K. (2004)
    3. An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors. (PubMed id 12654705)1, 3 Iwai N....Iwanaga Y. (2003)
    4. 15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma. (PubMed id 18632593)1, 9 Celis J.E....Gromova I. (2008)
    5. Gene variants associated with schizophrenia in a Norw egian genome-wide study are replicated in a large European cohort. (PubMed id 20185149)1 Athanasiu L....Andreassen O.A. (2010)
    6. Pharmacogenetic analysis of lipid responses to rosuva statin in Chinese patients. (PubMed id 20679960)1 Hu M....Tomlinson B. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. 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 Bailey S.D....Anand S. (2010)
    9. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    10. Genomewide association for schizophrenia in the CATIE study: results of stage 1. (PubMed id 18347602)1 Sullivan P.F....Close S.L. (2008)

    External Searches for ACSM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ACSM1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 116285 HGNC: 18049 AceView: BUCS1 Ensembl:ENSG00000166743 euGenes: HUgn116285
    ECgene: ACSM1 Kegg: 116285 H-InvDB: ACSM1

    Other Databases showing ACSM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACSM1 gene

    (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 ACSM1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ACSM1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACSM1 gene:
    Search GeneIP for patents involving ACSM1

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



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