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ACSM5 Gene

protein-coding   GIFtS: 52
GCID: GC16P020420

Acyl-CoA Synthetase Medium-Chain Family Member 5

  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 51 2 3
EC 6.2.1.23 8
Acyl-Coenzyme A Synthetase ACSM5, Mitochondrial2
MACS33
EC 6.2.18

External Ids:    HGNC: 260601   Entrez Gene: 549882   Ensembl: ENSG000001835497   OMIM: 6143615   UniProtKB: Q6NUN03   

Export aliases for ACSM5 gene to outside databases

Previous GC identifers: GC16P020329 GC16P018957


(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 ACSM5 Gene:
ACSM5 (acyl-CoA synthetase medium-chain family member 5) is a protein-coding gene. Diseases associated with ACSM5 include kidney disease, and hepatocellular carcinoma. GO annotations related to this gene include GTP binding and butyrate-CoA ligase activity. An important paralog of this gene is C10orf129.

UniProtKB/Swiss-Prot: ACSM5_HUMAN, Q6NUN0
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)




(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:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACSM5 gene promoter:
         HEN1   PPAR-alpha   NF-1   AP-1   NRSF form 1   Sox9   STAT3   AP-4   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACSM5 promoter sequence
   Search Chromatin IP Primers for ACSM5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSM5


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

ACSM5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSM5 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P020420:  view genomic region     (about GC identifiers)

Start:
20,420,856 bp from pter      End:
20,452,658 bp from pter
Size:
31,803 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACSM5_HUMAN, Q6NUN0 (See protein sequence)
Recommended Name: Acyl-coenzyme A synthetase ACSM5, mitochondrial precursor  
Size: 579 amino acids; 64760 Da
Cofactor: Magnesium or manganese (By similarity)
Sequence caution: Sequence=BAA91273.1; Type=Frameshift; Positions=560;
Secondary accessions: Q96AV1 Q96CX8 Q9NWV3
Alternative splicing: 2 isoforms:  Q6NUN0-1   Q6NUN0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACSM5: NX_Q6NUN0

Explore proteomics data for ACSM5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSM5 (Q6NUN0) (see all 12)
     GTTGAPK  VACMRTG  APYKYPR  GNVLPPG 


    See ACSM5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060358.2  
    ENSEMBL proteins: 
     ENSP00000460112   ENSP00000327916   ENSP00000461752  
    Reactome Protein details: Q6NUN0

    ACSM5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ACSM5
    OriGene Protein Over-expression Lysate for ACSM5
    OriGene MassSpec for ACSM5
    OriGene Custom Protein Services for ACSM5
    GenScript Custom Purified and Recombinant Proteins Services for ACSM5
    Novus Biologicals ACSM5 Protein
    Novus Biologicals ACSM5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSM5

    ACSM5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ACSM5
    OriGene Custom Antibody Services for ACSM5
    Novus Biologicals ACSM5 Antibodies
    Search for Antibodies for ACSM5 at Abcam
    Cloud-Clone Corp. Antibodies for ACSM5
    Search ThermoFisher Antibodies for ACSM5
    LSBio Antibodies in human, mouse, rat for ACSM5

    ACSM5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACSM5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACSM5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACSM5
    Cloud-Clone Corp. CLIAs for ACSM5


    (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 Q6NUN0

    ProtoNet protein and cluster: Q6NUN0

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSM5_HUMAN, Q6NUN0
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    ACSM5 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: ACSM5_HUMAN, Q6NUN0
    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 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0047760butyrate-CoA ligase activity IEA--
         
    ACSM5 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACSM5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACSM5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSM5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSM5

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ACSM5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ACSM5:
    hsa-miR-4303 hsa-miR-610 hsa-miR-544
    SwitchGear 3'UTR luciferase reporter plasmidACSM5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACSM5
    Predesigned siRNA for gene silencing in human, mouse, rat ACSM5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACSM5

    Clone
    Products:
         
    OriGene clones in human, mouse for ACSM5 (see all 7)
    OriGene ORF clones in mouse, rat for ACSM5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACSM5 (NM_017888)
    Sino Biological Human cDNA Clone for ACSM5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSM5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACSM5
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACSM5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM5


    (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
    ACSM5_HUMAN, Q6NUN0: Mitochondrion matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix IEA--

    ACSM5 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 ACSM5 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
    Amino Acid conjugation0.00
    Conjugation of salicylate with glycine0.00
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACSM5
        gamma-linolenate biosynthesis II (animals)
    eicosapentaenoate biosynthesis II (metazoa)


    1 Reactome Pathway for ACSM5
        Conjugation of salicylate with glycine

    1 PharmGKB Pathway for ACSM5
        Valproic Acid Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for ACSM5):
        Butanoate metabolism
    Metabolic pathways


    ACSM5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSM5: 
              Fatty Acid Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACSM5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ACSM5 (ENSP000003279164) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACADSENSP000002425924STRING: ENSP00000242592
    CCSENSP000003078704STRING: ENSP00000307870
    MON2ENSP000003772524STRING: ENSP00000377252
    EP300ENSP000002632534STRING: ENSP00000263253
    ALG6ENSP000003601494STRING: ENSP00000360149
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IEA--
    GO:0008152metabolic process ----

    ACSM5 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 ACSM5

    Selected HMDB Compounds for ACSM5 (see all 40)    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,
    Conferences by KenesGroup, 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 ACSM5 gene: 
    NM_017888.2  

    Unigene Cluster for ACSM5:

    Acyl-CoA synthetase medium-chain family member 5
    Hs.659606  [show with all ESTs]
    Unigene Representative Sequence: BC068516
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575584(uc002dhd.1) ENST00000331849(uc002dhe.3) ENST00000575070
    ENST00000570305 ENST00000574748 ENST00000573920 ENST00000577024
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ACSM5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ACSM5:
    hsa-miR-4303 hsa-miR-610 hsa-miR-544
    SwitchGear 3'UTR luciferase reporter plasmidACSM5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACSM5
    Predesigned siRNA for gene silencing in human, mouse, rat ACSM5
    Clone
    Products:
         
    OriGene clones in human, mouse for ACSM5 (see all 7)
    OriGene ORF clones in mouse, rat for ACSM5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACSM5 (NM_017888)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSM5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACSM5
    OriGene qSTAR qPCR primer pairs in human, mouse for ACSM5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSM5
      QuantiTect SYBR Green Assays in human, mouse, rat ACSM5
      QuantiFast Probe-based Assays in human, mouse, rat ACSM5

    Additional mRNA sequence: 

    AK000588.1 BC013753.1 BC016703.1 BC068516.1 

    7 DOTS entries:

    DT.403739  DT.92429576  DT.95367603  DT.95256685  DT.92429572  DT.92429571  DT.99954204 

    Selected AceView cDNA sequences (see all 49):

    AV687871 AI436700 BC013753 BX116869 AA873330 NM_017888 BC068516 AK000588 
    AV652689 AI791417 BG249440 AV652688 AV653851 AV699287 AI733019 AV699581 
    BI459920 AV652696 BI546870 BC016703 CB158491 BG719476 BQ650371 AV654888 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACSM5 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                    -                 -     -     -                                                                           
    SP2:                                                                                                                              
    SP3:                                                                    -                                                         
    SP4:                                                                          -                                                   
    SP5:                    -                                                                                                         


    ECgene alternative splicing isoforms for ACSM5

    (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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    ACSM5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGCATCA
    ACSM5 Expression
    About this image

    ACSM5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSM5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659606

    UniProtKB/Swiss-Prot: ACSM5_HUMAN, Q6NUN0
    Tissue specificity: Detected in kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSM5: 
              Fatty Acid Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ACSM5
    OriGene qSTAR qPCR primer pairs in human, mouse for ACSM5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSM5
    QuantiTect SYBR Green Assays in human, mouse, rat ACSM5
    QuantiFast Probe-based Assays in human, mouse, rat ACSM5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM5

    (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 ACSM5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsm51 , 5 acyl-CoA synthetase medium-chain family member 51, 5 84.26(n)1
    86.33(a)1
      7 (63.94 cM)5
    2724281  NM_178758.31  NP_848873.11 
     1195262655 
    chicken
    (Gallus gallus)
    Aves ACSM51 acyl-CoA synthetase medium-chain family member 5 65.13(n)
    62.65(a)
      426992  XM_424596.4  XP_424596.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACSM56
    acyl-CoA synthetase medium-chain family member 5
    55(a)
    1 ↔ 1
    GL343402.1(753168-765768)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99936
    --
    20(a)
    many ↔ many
    2R(16737651-16739626)
    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 ACSM5 (if available)
    TreeFam Gene Tree for ACSM5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSM5 gene
    C10orf1292  ACSM32  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  ACSS12  
    ACSF22  
    7 SIMAP similar genes for ACSM5 using alignment to 2 protein entries:     ACSM5_HUMAN (see all proteins):
    ACSM4    ACSM3    ACSM2A    ACSM1    ACSM2B    ACSM6
    A-923A4.2

    ACSM5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ACSM5
    PGOHUM00000248751


    (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 ACSM5 (see all 1062)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs600508311,2
    C--20418887(+) ATTCTC/TGCTTA 1 -- us2k15Minor allele frequency- T:0.14WA CSA NA EA 362
    rs1840216511,2
    --20419066(+) GGATGA/TCTATC 1 -- us2k10--------
    rs71857471,2
    C,F,H--20419098(+) cacctA/Caaata 1 -- us2k15Minor allele frequency- C:0.04NS EA WA 536
    rs1493878101,2
    --20419200(+) TTGCAG/TGCCTG 1 -- us2k10--------
    rs1868386671,2
    --20419312(+) GACCGA/GTATGG 1 -- us2k10--------
    rs1922891631,2
    --20419435(+) TGTCTC/TCCAGG 1 -- us2k10--------
    rs1843049291,2
    --20419473(+) CACTGA/CAACCT 1 -- us2k10--------
    rs1907424781,2
    --20419603(+) TAGTAC/GAGACA 1 -- us2k10--------
    rs1463311431,2
    C--20419624(+) GTGTTA/GGTCAG 1 -- us2k10--------
    rs1395419401,2
    --20419639(+) GTCTCA/GATCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACSM5 (20420856 - 20452658 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ACSM5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668335CNV Deletion23128226
    nsv436835CNV Insertion17901297
    nsv510415CNV Loss20534489
    nsv905570CNV Gain21882294
    esv1311CNV CNV17122850
    dgv826e1CNV Complex17122850

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    (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

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    OMIM gene information: 614361    OMIM disorders: --

    2 diseases for ACSM5:    About MalaCards
    kidney disease    hepatocellular carcinoma


    ACSM5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACSM5
    Human Genome Epidemiology (HuGE) Navigator: ACSM5 (1 document)

    Export disorders for ACSM5 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 ACSM5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ACSM5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PubMed id 17762044)1, 3 Watkins P.A.... Pevsner J. (J. Lipid Res. 2007)
    3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    4. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    5. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors. (PubMed id 12654705)2 Iwai N.... Iwanaga Y. (Hypertension 2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. (PubMed id 11752456)1 Xu X.R.... Han Z.G. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (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: 54988 HGNC: 26060 AceView: FLJ20581 Ensembl:ENSG00000183549 euGenes: HUgn54988
    ECgene: ACSM5 Kegg: 54988 H-InvDB: ACSM5

    (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 ACSM5 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 ACSM5 gene:
    Search GeneIP for patents involving ACSM5

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



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