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ACSF3 Gene

protein-coding   GIFtS: 58
GCID: GC16P089160

Acyl-CoA Synthetase Family Member 3

  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 Family Member 31 2
Malonyl-CoA Synthetase1 2
Acyl-CoA Synthetase Family Member 3, Mitochondrial2
EC 6.2.1.-3
EC 6.2.18

External Ids:    HGNC: 272881   Entrez Gene: 1973222   Ensembl: ENSG000001767157   OMIM: 6142455   UniProtKB: Q4G1763   

Export aliases for ACSF3 gene to outside databases

Previous GC identifers: GC16P087688 GC16P074859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACSF3 Gene:
This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing
the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to
mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity.
Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced
transcript variants have been observed for this gene. (provided by RefSeq, Sep 2013)

GeneCards Summary for ACSF3 Gene:
ACSF3 (acyl-CoA synthetase family member 3) is a protein-coding gene. Diseases associated with ACSF3 include combined malonic and methylmalonic aciduria, and methylmalonic acidemia. GO annotations related to this gene include malonyl-CoA synthetase activity and acid-thiol ligase activity.

UniProtKB/Swiss-Prot: ACSF3_HUMAN, Q4G176
Function: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and
methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward
very-long-chain substrates

Gene Wiki entry for ACSF3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACSF3 gene promoter:
         AML1a   Pax-6   HTF   Lmo2   C/EBPalpha   CHOP-10   AREB6   PPAR-alpha   PPAR-gamma2   ZIC2/Zic2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ACSF3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSF3


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

ACSF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSF3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089160:  view genomic region     (about GC identifiers)

Start:
89,154,783 bp from pter      End:
89,222,254 bp from pter
Size:
67,472 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: ACSF3_HUMAN, Q4G176 (See protein sequence)
Recommended Name: Acyl-CoA synthetase family member 3, mitochondrial precursor  
Size: 576 amino acids; 64130 Da
Sequence caution: Sequence=AAH72391.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: A8K4J8 C9JQL6 Q6INA0 Q8N2F7

Explore the universe of human proteins at neXtProt for ACSF3: NX_Q4G176

Explore proteomics data for ACSF3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys444
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ACSF3 (Q4G176)
     DVAVIGVPD  CPLWVGATCV  HPSITDVAVIG 


    See ACSF3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001120686.1  NP_001230208.1  NP_001271245.1  NP_777577.2  

    ENSEMBL proteins: 
     ENSP00000439201   ENSP00000320646   ENSP00000440734   ENSP00000445397   ENSP00000384627  
     ENSP00000367596   ENSP00000457301   ENSP00000446281   ENSP00000442781   ENSP00000445870  
     ENSP00000442683   ENSP00000443428  

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    Novus Biologicals ACSF3 Protein
    Novus Biologicals ACSF3 Lysate
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    Cloud-Clone Corp. Proteins for ACSF3

    ACSF3 Antibody Products:

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    Cloud-Clone Corp. CLIAs for ACSF3


    (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 Q4G176

    ProtoNet protein and cluster: Q4G176

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSF3_HUMAN, Q4G176
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    ACSF3 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: ACSF3_HUMAN, Q4G176
    Function: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and
    methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward
    very-long-chain substrates

         Enzyme Numbers (IUBMB): EC 6.2.12 EC 6.2.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0016878acid-thiol ligase activity IDA17762044
    GO:0090409malonyl-CoA synthetase activity IDA--
         
    ACSF3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACSF3:
     Decreased circadian period len 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ACSF3:
    hsa-mir-192-5p (MIRT026799), hsa-mir-215-5p (MIRT024911)

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    (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
    ACSF3_HUMAN, Q4G176: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    extracellular1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    ACSF3 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACSF3
    Interactions:

        Search GeneGlobe Interaction Network for ACSF3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACSF3 (Q4G1763 ENSP000003206464) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3C3Q8NEB93, ENSP000002620394I2D: score=1 STRING: ENSP00000262039
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    AURKCQ9UQB93I2D: score=2 
    AADATQ8N5Z03I2D: score=1 
    ACAA1P091103I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IDA17762044
    GO:0006633fatty acid biosynthetic process IDA--
    GO:0008152metabolic process ----
    GO:0090410malonate catabolic process IDA--

    ACSF3 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 ACSF3

    Selected HMDB Compounds for ACSF3 (see all 32)    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 ACSF3 gene (4 alternative transcripts): 
    NM_001127214.3  NM_001243279.2  NM_001284316.1  NM_174917.4  

    Unigene Cluster for ACSF3:

    Acyl-CoA synthetase family member 3
    Hs.461727  [show with all ESTs]
    Unigene Representative Sequence: NR_045666
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537895 ENST00000317447(uc002fmp.3 uc021tmq.1 uc010cig.2 uc010cih.2 uc010cii.2)
    ENST00000537290 ENST00000540697 ENST00000406948 ENST00000378345 ENST00000541755
    ENST00000542688 ENST00000544543 ENST00000538340 ENST00000543676 ENST00000562204
    ENST00000537116 ENST00000537155 ENST00000535176 ENST00000393145 ENST00000562750

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACSF3 (NM_001127214)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSF3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSF3
      QuantiTect SYBR Green Assays in human, mouse, rat ACSF3
      QuantiFast Probe-based Assays in human, mouse, rat ACSF3

    Additional mRNA sequence: 

    AK075499.1 AK096561.1 AK098042.1 AK098113.1 AK290963.1 BC028399.1 BC064609.1 BC072391.1 
    NR_023316.2 NR_045666.1 NR_045667.1 

    10 DOTS entries:

    DT.455158  DT.100805770  DT.102823776  DT.95199001  DT.97796803  DT.421571  DT.100779798  DT.100802695 
    DT.91880367  DT.95304655 

    Selected AceView cDNA sequences (see all 145):

    AI083911 CR623892 BX109454 AI568399 CR615543 BM980210 BF508503 AL557299 
    AA708692 CR606678 BM479998 BX404035 CR624745 AI674691 BQ002205 BM709081 
    AI346836 BC072391 AA742963 BX325026 BI868332 BM909397 BQ015385 BC064609 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACSF3 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^
    SP1:                                                                                                  -           -     -     -     -                 -     -   
    SP2:                                -     -     -     -                                               -           -     -     -     -                 -     -   
    SP3:                                                                                      -           -           -     -     -     -                           
    SP4:                                                                                                                                                            
    SP5:                                                                                      -           -           -     -     -                                 

    ExUns: 16 ^ 17 ^ 18a · 18b · 18c · 18d
    SP1:  -     -                           
    SP2:  -     -                           
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for ACSF3

    (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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    ACSF3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGGTCCCC
    ACSF3 Expression
    About this image


    ACSF3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ACSF3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSF3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461727
        Custom PCR Arrays for ACSF3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSF3

    (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 eukaryotes.

    Orthologs for ACSF3 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsf31 , 5 acyl-CoA synthetase family member 31, 5 80.78(n)1
    79.44(a)1
      8 (71.97 cM)5
    2576331  NM_144932.31  NP_659181.21 
     1227755055 
    chicken
    (Gallus gallus)
    Aves ACSF31 acyl-CoA synthetase family member 3 70.42(n)
    70.48(a)
      427561  XM_004944307.1  XP_004944364.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACSF36
    acyl-CoA synthetase family member 3
    65(a)
    1 ↔ 1
    GL343487.1(137422-207985)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157042 Xenopus laevis transcribed sequence with weak similarity more 75.84(n)    BJ078063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5622921 acyl-CoA synthetase family member 3, mitochondrial-like 63.8(n)
    63.36(a)
      562292  XM_685690.4  XP_690782.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG181556
    --
    27(a)
    1 ↔ 1
    X(7223193-7225288)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-216
    acs-116
    Protein ACS-11 (acs-11) mRNA, complete cds
    32(a)
    29(a)
    many → 1
    many → 1
    V(3089074-3091351) WBGene00016849
    II(4742128-4745281) WBGene00018269
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PCS60(YBR222C)4 Peroxisomal protein that binds AMP and mRNA, localizes more   --   2(668351-666720) 852523  NP_009781.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G161701 AT3G16170 49(n)
    43.98(a)
      820862  NM_112487.3  NP_566537.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07613001 Os01g0761300 52.68(n)
    47.32(a)
      4327020  NM_001050857.1  NP_001044322.1 


    ENSEMBL Gene Tree for ACSF3 (if available)
    TreeFam Gene Tree for ACSF3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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 ACSF3 (see all 2026)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1409860551,2,,4
    C,FCombined malonic and methylmalonic aciduria (CMAMMA)4 --90169802(+) GCTCCC/TGCTGC 8 P L nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4552
    rs1504877941,2,,4
    C,FCombined malonic and methylmalonic aciduria (CMAMMA)4 --90181573(+) TGACCG/AAGATC 8 /K /E nc-transcript-variantmis12Minor allele frequency- A:0.00NA EU 5867
    rs1386807961,2,,4
    C,FCombined malonic and methylmalonic aciduria (CMAMMA)4 --90212445(+) GAGGCC/TGGACC 9 R W nc-transcript-variantmis12Minor allele frequency- T:0.00NA EU 5780
    rs1410901431,2,,4
    C,FCombined malonic and methylmalonic aciduria (CMAMMA)4 --90221116(+) TCCCGC/TGGAAC 9 R W nc-transcript-variantmis12Minor allele frequency- T:0.00NA EU 5303
    VAR_0665104
    Combined malonic and methylmalonic aciduria (CMAMMA)4--see VAR_0665102 R Q mis40--------
    VAR_0665084
    Combined malonic and methylmalonic aciduria (CMAMMA)4--see VAR_0665082 K T mis40--------
    VAR_0665044
    Combined malonic and methylmalonic aciduria (CMAMMA)4--see VAR_0665042 M R mis40--------
    VAR_0665124
    Combined malonic and methylmalonic aciduria (CMAMMA)4--see VAR_0665122 G S mis40--------
    VAR_0665064
    Combined malonic and methylmalonic aciduria (CMAMMA)4--see VAR_0665062 T I mis40--------
    rs3688407571,2
    C--74862118(+) TGGCT-/GA    
       G
    /TGA
    GAGGG
    8 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for ACSF3 (89154783 - 89222254 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACSF3 (see all 41):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv5123CNV Deletion18987735
    esv2715101CNV Deletion23290073
    esv2715103CNV Deletion23290073
    esv2715111CNV Deletion23290073
    esv2715109CNV Deletion23290073
    esv2715104CNV Deletion23290073
    esv2715105CNV Deletion23290073
    esv3286CNV Deletion18987735
    esv2715106CNV Deletion23290073
    esv1504476CNV Deletion17803354

    Human Gene Mutation Database (HGMD): ACSF3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSF3
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSF3

    (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.)
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    OMIM gene information: 614245   
    OMIM disorders: 614265  
    UniProtKB/Swiss-Prot: ACSF3_HUMAN, Q4G176
  • Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]: A metabolic disease characterized by
    malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than
    malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma,
    ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental
    delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for ACSF3:    
    About MalaCards
    combined malonic and methylmalonic aciduria    methylmalonic acidemia    hypoglycemia    microcephaly
    hypotonia    b-cell lymphomas    liver disease    hypertension
    type 1 diabetes    tuberculosis    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for ACSF3:
    Methylmalonic acidemia

    ACSF3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACSF3
    Human Genome Epidemiology (HuGE) Navigator: ACSF3 (1 document)

    Export disorders for ACSF3 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 ACSF3 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ACSF3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PubMed id 17762044)1, 2, 3 Watkins P.A.... Pevsner J. (J. Lipid Res. 2007)
    2. Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis. (PubMed id 21846720)1, 3 Witkowski A....Smith S. (J. Biol. Chem. 2011)
    3. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (PubMed id 21841779)1, 2 Sloan J.L.... Venditti C.P. (Nat. Genet. 2011)
    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. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Analysis of differentially expressed genes and microRNAs in alcoholic liver disease. (PubMed id 23337955)1 Liu Y....Li Y.M. (Int. J. Mol. Med. 2013)
    8. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (Mol. Endocrinol. 2013)
    9. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PubMed id 24035498)1 Tan M.K....Harper J.W. (Mol. Cell 2013)
    10. The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype. (PubMed id 22420028)1 Salaverria I....Siebert R. (amp 2012)

    (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: 197322 HGNC: 27288 AceView: LOC197322 Ensembl:ENSG00000176715 euGenes: HUgn197322
    ECgene: ACSF3 H-InvDB: ACSF3

    (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)
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    NameDescription
    PharmGKB entry for ACSF3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACSF3 gene:
    Search GeneIP for patents involving ACSF3

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



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