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ACSM1 Gene

protein-coding   GIFtS: 59
GCID: GC16M020634

Acyl-CoA Synthetase Medium-Chain Family Member 1

(Previous name: butyryl Coenzyme A synthetase 1)
(Previous symbol: BUCS1)
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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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
MACS12 3 5     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   
ORGUL members:         

Export aliases for ACSM1 gene to outside databases

Previous GC identifers: GC16M020543 GC16M019170


(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 ACSM1 Gene:
ACSM1 (acyl-CoA synthetase medium-chain family member 1) is a protein-coding gene. GO annotations related to this gene include fatty acid ligase activity and GTP binding. An important paralog of this gene is C10orf129.

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)




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for ACSM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
Secondary accessions: Q08AH2 Q96A20
Alternative splicing: 2 isoforms:  Q08AH1-1   Q08AH1-2   

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

Explore proteomics data for ACSM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSM1 (Q08AH1) (see all 8)
     VAESAVV  APYKYPR  SGYRIGP  DILYRLQ 


    See ACSM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443188.2  
    ENSEMBL proteins: 
     ENSP00000301956   ENSP00000428650   ENSP00000428098   ENSP00000428047   ENSP00000428830  
     ENSP00000219151  
    Reactome Protein details: Q08AH1

    ACSM1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ACSM1
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    Novus Biologicals ACSM1 Protein
    Novus Biologicals ACSM1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSM1

     
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    antibodies-online proteins for ACSM1 (3 products) 

     
    antibodies-online peptides for ACSM1

    ACSM1 Antibody Products:

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    antibodies-online kits for ACSM1 (3 products) 


    (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 Q08AH1

    ProtoNet protein and cluster: Q08AH1

    1 Blocks protein domain: IPB000873 AMP-binding signature

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


    Find genes that share domains with ACSM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (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--
         
    Find genes that share ontologies with ACSM1           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACSM1

    miRNA
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    miRTarBase miRNAs that target ACSM1:
    hsa-mir-335-5p (MIRT016971)

    Block miRNA regulation of human, mouse, rat ACSM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ACSM1
    SwitchGear 3'UTR luciferase reporter plasmidACSM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACSM1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ACSM1 (NM_052956)
    Sino Biological Human cDNA Clone for ACSM1
    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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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM1


    (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
    ACSM1_HUMAN, Q08AH1: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with ACSM1           About GenesLikeMe


    (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 ACSM1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Conjugation of carboxylic acids
    Conjugation of carboxylic acids0.30
    Conjugation of phenylacetate with glutamine0.00
    Conjugation of benzoate with glycine0.00
    Amino Acid conjugation0.00
    3Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    4stearate biosynthesis I (animals)
    gamma-linolenate biosynthesis II (animals)0.35
    eicosapentaenoate biosynthesis II (metazoa)0.00
    5Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics


    Find genes that share SuperPaths with ACSM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for ACSM1
        Conjugation of phenylacetate with glutamine
    Conjugation of benzoate with glycine

    1 PharmGKB Pathway for ACSM1
        Valproic Acid Pathway, Pharmacokinetics

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

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSM1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACSM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ACSM1 (ENSP000003019564) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACADSENSP000002425924STRING: ENSP00000242592
    GLYATENSP000003402004STRING: ENSP00000340200
    CCSENSP000003078704STRING: ENSP00000307870
    MON2ENSP000003772524STRING: ENSP00000377252
    ALG6ENSP000003601494STRING: ENSP00000360149
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0015980energy derivation by oxidation of organic compounds NAS11470804
    GO:0018874benzoate metabolic process NAS11470804

    Find genes that share ontologies with ACSM1           About GenesLikeMe



    (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 ACSM1

    Selected 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 inferred 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)



    Find genes that share compounds with ACSM1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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      QuantiFast Probe-based Assays in human, mouse, rat ACSM1

    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.100779659  DT.403765  DT.100779662 

    17 AceView cDNA sequences:

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

    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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    ACSM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCCAATGT
    ACSM1 Expression
    About this image


    ACSM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Testis (Reproductive System)
    ACSM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.306812
        Pathway & Disease-focused RT2 Profiler 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 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 ACSM1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsm11 , 5 acyl-CoA synthetase medium-chain family member 11, 5 78.24(n)1
    70.86(a)1
      7 (64.02 cM)5
    1171471  NM_054094.51  NP_473435.11 
     1196070265 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG114076
    --
    19(a)
    many ↔ many
    3R(15606974-15608868)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-166
    Protein ACS-16 (acs-16) mRNA, complete cds
    18(a)
    1 → many
    I(1471297-1479924) WBGene00018579


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSM1 gene
    C10orf1292  ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM42  ACSM2B2  ACSS12  
    ACSF22  
    10 SIMAP similar genes for ACSM1 using alignment to 3 protein entries:     ACSM1_HUMAN (see all proteins):
    A-923A4.2    NPIPB5    C10orf129    ACSM2A    ACSM2B    ACSM5
    ACSM4    ACSM6    ACSM3    DKFZp666B209

    Find genes that share paralogs with ACSM1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ACSM1
    PGOHUM00000258490 PGOHUM00000246389


    (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 ACSM1 (see all 1587)    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
    rs114822451,2
    C--20634426(+) TAGGT-/C/TAACCC 1 -- ds50011CSA 2
    rs712759281,2
    C--20634427(+) TAGGTCT/AACCCT 1 -- ds50011Minor allele frequency- A:0.50NA 2
    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--------

    HapMap Linkage Disequilibrium report for ACSM1 (20634559 - 20710212 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ACSM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1761CNV Insertion18451855
    nsv507809CNV Insertion20534489
    nsv436835CNV Insertion17901297
    nsv509604CNV Insertion20534489
    nsv833164CNV Loss17160897
    nsv516605CNV Loss19592680
    nsv905575CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (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: 614357    OMIM disorders: --


    Find genes that share disorders with ACSM1           About GenesLikeMe

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

    Export disorders for ACSM1 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 ACSM1 gene, integrated from 10 sources (see all 16):
    (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. (J. Biol. Chem. 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. (J. Hypertens. 2004)
    3. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. (PubMed id 20185149)1, 4 Athanasiu L....Andreassen O.A. (J Psychiatr Res 2010)
    4. 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)
    5. 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)
    6. Genomewide association for schizophrenia in the CATIE study: results of stage 1. (PubMed id 18347602)1, 4 Sullivan P.F....Close S.L. (Mol. Psychiatry 2008)
    7. An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors. (PubMed id 12654705)1, 3 Iwai N.... Iwanaga Y. (Hypertension 2003)
    8. 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. (amp 2008)
    9. Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients. (PubMed id 20679960)1 Hu M....Tomlinson B. (Pharmacogenet. Genomics 2010)
    10. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 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)
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    Entrez Gene: 116285 HGNC: 18049 AceView: BUCS1 Ensembl:ENSG00000166743 euGenes: HUgn116285
    ECgene: ACSM1 Kegg: 116285 H-InvDB: ACSM1

    (According to HUGE)
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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 ACSM1 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 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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