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

ACSF3 Gene

protein-coding   GIFtS: 56
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)
About This Section

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

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. An important paralog of this gene is ACSF2.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010542.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACSF3

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

UniProtKB/Swiss-Prot: ACSF3_HUMAN, Q4G176 (See protein sequence)
Recommended Name: Acyl-CoA synthetase family member 3, mitochondrial precursor  
Size: 576 amino acids; 64130 Da
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4G176

  • 3 DME Specific Peptides for ACSF3 (Q4G176)
     DVAVIGVPD  CPLWVGATCV  HPSITDVAVIG 

    ACSF3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACSF3 Protein Expression
    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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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for ACSF3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ACSF3 for ontologies           About GeneDecksing



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

    2 InterPro protein domains:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSF3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/35 Interacting proteins for ACSF3 (Q4G1763 ENSP000003206464) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AURKCQ9UQB93I2D: score=2 
    AADATQ8N5Z03I2D: score=1 
    ACAA1P091103I2D: score=1 
    ACACBO007633I2D: score=1 
    ACAT1P247523I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO: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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSF3

    10/32 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--

    Search CenterWatch for drugs/clinical trials and news about ACSF3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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

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    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 

    24/145 AceView cDNA sequences (see all 145):

    AA708692 AI674691 CR615543 AL557299 BM479998 BQ002205 CR624745 CR606678 
    BM980210 CR623892 BM709081 AI083911 BX404035 AI568399 BF508503 BX109454 
    BU620517 CD672719 BQ007827 BG397849 AW082518 AI580113 BX447740 BX102417 

    GeneLoc Exon Structure

    5/13 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™, 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

    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


    See ACSF3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSF3

    SOURCE GeneReport for Unigene cluster: Hs.461727
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACSF3 gene from 10/20 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_425134.3  XP_425134.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACSF36
    Uncharacterized protein
    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 63.99(n)
    63.1(a)
      562292  XM_685690.3  XP_690782.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG181556
    --
    26(a)
    1 ↔ 1
    X(7223193-7225288)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-216
    acs-116
    (see all 3)
    Protein ACS-11
    (see all 3)
    30(a)
    28(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    V(3089074-3091351)
    II(4742128-4745281)
    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 putative long-chain acyl-CoA synthetase 49.23(n)
    44.24(a)
      820862  NM_112487.3  NP_566537.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07613001 hypothetical protein 52.8(n)
    47.3(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
    Paralogs for ACSF3 gene
    ACSF22  

    ACSF3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2026 SNPs in ACSF3 are shown (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
    ----------
    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--------
    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
    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) 10/41 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 614245    OMIM disorders: --

    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

  • 8 diseases for ACSF3:    About MalaCards
    combined malonic and methylmalonic aciduria    methylmalonic acidemia    microcephaly    hypotonia
    hypoglycemia    b-cell lymphomas    tuberculosis    hypertension

    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)
    About This Section

    PubMed articles for ACSF3 gene, integrated from 9 sources (see all 19):
    (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. (2007)
    2. Mammalian ACSF3 protein is a malonyl-CoA synthetase t hat supplies the chain extender units for mitochondrial fatty acid synthesis. (PubMed id 21846720)1, 3 Witkowski A....Smith S. (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. (2011)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Analysis of differentially expressed genes and microRN As in alcoholic liver disease. (PubMed id 23337955)1 Liu Y....Li Y.M. (2013)
    8. The Identification of Novel Proteins That Interact Wit h the GLP-1 Receptor and Restrain its Activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (2013)
    9. The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with g erminal center phenotype. (PubMed id 22420028)1 Salaverria I....Siebert R. (2012)
    10. Dual role of ancient ubiquitous protein 1 (AUP1) in l ipid droplet accumulation and endoplasmic reticulum (ER) protein quality contro l. (PubMed id 21857022)1 Klemm E.J....Ploegh H.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 197322 HGNC: 27288 AceView: LOC197322 Ensembl:ENSG00000176715 euGenes: HUgn197322
    ECgene: ACSF3 H-InvDB: ACSF3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACSF3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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