ACSF3 Gene (Protein Coding)

Acyl-CoA Synthetase Family Member 3

GC16P089088
GIFtS:
43
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 combine... See more...

Aliases for ACSF3 Gene

Aliases for ACSF3 Gene

  • Acyl-CoA Synthetase Family Member 3 2 3 4 5
  • Malonate--CoA Ligase ACSF3, Mitochondrial 3 4
  • Malonyl-CoA Synthetase 2 3
  • Acyl-CoA Synthetase Family Member 3, Mitochondrial 3
  • EC 6.2.1.n3 4
  • EC 6.2.1 51
  • ACSF3 5

External Ids for ACSF3 Gene

Previous GeneCards Identifiers for ACSF3 Gene

  • GC16P087688
  • GC16P089160
  • GC16P074859

Summaries for ACSF3 Gene

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. Among its related pathways are Fatty acid biosynthesis (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include acid-thiol ligase activity and malonyl-CoA synthetase activity. An important paralog of this gene is ACSM5.

UniProtKB/Swiss-Prot Summary for ACSF3 Gene

  • Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates (PubMed:17762044).

Gene Wiki entry for ACSF3 Gene

Additional gene information for ACSF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSF3 Gene

Genomics for ACSF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ACSF3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSF3

Top Transcription factor binding sites by QIAGEN in the ACSF3 gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • HTF
  • Lmo2
  • Pax-6
  • PPAR-alpha
  • PPAR-gamma2
  • ZIC2

Genomic Locations for ACSF3 Gene

Genomic Locations for ACSF3 Gene
chr16:89,088,375-89,164,121
(GRCh38/hg38)
Size:
75,747 bases
Orientation:
Plus strand
chr16:89,154,783-89,222,254
(GRCh37/hg19)
Size:
67,472 bases
Orientation:
Plus strand

Genomic View for ACSF3 Gene

Genes around ACSF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSF3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACSF3 Gene

Proteins for ACSF3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ACSF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G176-ACSF3_HUMAN
    Recommended name:
    Malonate--CoA ligase ACSF3, mitochondrial
    Protein Accession:
    Q4G176
    Secondary Accessions:
    • A8K4J8
    • C9JQL6
    • Q6INA0
    • Q8N2F7

    Protein attributes for ACSF3 Gene

    Size:
    576 amino acids
    Molecular mass:
    64130 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH72391.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

neXtProt entry for ACSF3 Gene

Protein Expression for ACSF3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSF3 Gene

Q4G176:
  • DVAVIGVPD
  • HPSITDVAVIG
  • CPLWVGATCV

Post-translational modifications for ACSF3 Gene

  • Ubiquitination at Lys444
  • Modification sites at PhosphoSitePlus

Other Protein References for ACSF3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ACSF3
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACSF3

Domains & Families for ACSF3 Gene

Gene Families for ACSF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACSF3 Gene

InterPro:
Blocks:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACSF3 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA synthetase family member 3, mitochondrial (ACSF3_HUMAN)
  • ACSF3 protein (Q6P2C7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4G176

UniProtKB/Swiss-Prot:

ACSF3_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSF3: view

Function for ACSF3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ACSF3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21846720, PubMed:21841779). May have some preference toward very-long-chain substrates (PubMed:17762044).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + tetracosanoate = AMP + diphosphate + tetracosanoyl-CoA; Xref=Rhea:RHEA:33639, ChEBI:CHEBI:30616, ChEBI:CHEBI:31014, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:17762044};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + malonate = AMP + diphosphate + malonyl-CoA; Xref=Rhea:RHEA:32139, ChEBI:CHEBI:15792, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:456215; EC=6.2.1.n3; Evidence={ECO:0000269|PubMed:21846720};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=36.8 uM for malonate {ECO:0000269|PubMed:21846720};

Enzyme Numbers (IUBMB) for ACSF3 Gene

Phenotypes From GWAS Catalog for ACSF3 Gene

Gene Ontology (GO) - Molecular Function for ACSF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005524 ATP binding IEA --
GO:0016405 CoA-ligase activity IBA 21873635
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ACSF3: view
genes like me logo Genes that share phenotypes with ACSF3: view

Human Phenotype Ontology for ACSF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSF3

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACSF3 Gene

Localization for ACSF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSF3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSF3 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACSF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 21846720
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACSF3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSF3 Gene

Pathways & Interactions for ACSF3 Gene

genes like me logo Genes that share pathways with ACSF3: view

Gene Ontology (GO) - Biological Process for ACSF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA,IDA 17762044
GO:0006633 fatty acid biosynthetic process IDA 21846720
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS --
GO:0090410 malonate catabolic process IDA 21642549
genes like me logo Genes that share ontologies with ACSF3: view

No data available for SIGNOR curated interactions for ACSF3 Gene

Drugs & Compounds for ACSF3 Gene

Products:

  1. Drug

(2) Drugs for ACSF3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(30) Additional Compounds for ACSF3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
 4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
 38795-33-4
genes like me logo Genes that share compounds with ACSF3: view

Transcripts for ACSF3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACSF3 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSF3

Alternative Splicing Database (ASD) splice patterns (SP) for ACSF3 Gene

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: - - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9: - -
SP10: -
SP11: -
SP12:
SP13:

ExUns: 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ACSF3 Gene

GeneLoc Exon Structure for
ACSF3

Expression for ACSF3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACSF3 Gene

mRNA expression in normal human tissues for ACSF3 Gene
mRNA expression by BioGPS for ACSF3 GenemRNA expression by GTEx for ACSF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACSF3 Gene

This gene is overexpressed in Lymph node (13.2), Adrenal (10.6), and Nasal epithelium (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACSF3 Gene



Protein tissue co-expression partners for ACSF3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACSF3

SOURCE GeneReport for Unigene cluster for ACSF3 Gene:

Hs.461727

Evidence on tissue expression from TISSUES for ACSF3 Gene

  • Nervous system(4.4)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSF3 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
genes like me logo Genes that share expression patterns with ACSF3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACSF3 Gene

Orthologs for ACSF3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACSF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ACSF3 30 31
  • 97.2 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ACSF3 30 31
  • 81.97 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ACSF3 30 31
  • 81.07 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Acsf3 30 17 31
  • 80.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Acsf3 30
  • 80.26 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 72 (a)
 OneToMany
-- 31
  • 68 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia ACSF3 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ACSF3 30 31
  • 70.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ACSF3 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia acsf3 30
  • 63.25 (n)
Str.18337 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.15704 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC562292 30
  • 63.8 (n)
CR848706.1 31
  • 59 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG18155 31
  • 27 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea acs-21 31
  • 32 (a)
 OneToMany
acs-11 31
  • 29 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PCS60 31 33
  • 26 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G16170 30
  • 49 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0761300 30
  • 52.68 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02107 30
  • 51.31 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 OneToOne
Species where no ortholog for ACSF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACSF3 Gene

ENSEMBL:
Gene Tree for ACSF3 (if available)
TreeFam:
Gene Tree for ACSF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSF3: view image

Paralogs for ACSF3 Gene

Paralogs for ACSF3 Gene

genes like me logo Genes that share paralogs with ACSF3: view

Variants for ACSF3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSF3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
639703 Pathogenic: Combined malonic and methylmalonic aciduria 89,133,196(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
640535 Uncertain Significance: Combined malonic and methylmalonic aciduria 89,102,619(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
642486 Pathogenic: Combined malonic and methylmalonic aciduria 89,102,626(+) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
642668 Pathogenic: Combined malonic and methylmalonic aciduria 89,101,132(+) G/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
646427 Uncertain Significance: Combined malonic and methylmalonic aciduria 89,101,187(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACSF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACSF3 Gene

Variant ID Type Subtype PubMed ID
dgv1664e59 CNV duplication 20981092
dgv3066n100 CNV gain 25217958
dgv5320n54 CNV loss 21841781
dgv554e214 CNV gain 21293372
esv1001300 CNV deletion 20482838
esv1504476 CNV deletion 17803354
esv2658913 CNV deletion 23128226
esv2715101 CNV deletion 23290073
esv2715102 CNV deletion 23290073
esv2715103 CNV deletion 23290073
esv2715104 CNV deletion 23290073
esv2715105 CNV deletion 23290073
esv2715106 CNV deletion 23290073
esv2715108 CNV deletion 23290073
esv2715109 CNV deletion 23290073
esv2715110 CNV deletion 23290073
esv2715111 CNV deletion 23290073
esv2715112 CNV deletion 23290073
esv3286 CNV loss 18987735
esv3639566 CNV loss 21293372
esv3639569 CNV loss 21293372
esv5123 CNV loss 18987735
nsv103175 CNV insertion 16902084
nsv1062378 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1070783 CNV deletion 25765185
nsv1070784 CNV deletion 25765185
nsv1130699 CNV deletion 24896259
nsv1134581 CNV deletion 24896259
nsv1135823 CNV deletion 24896259
nsv1141941 OTHER inversion 24896259
nsv1143836 CNV deletion 24896259
nsv1146459 CNV deletion 26484159
nsv457619 CNV loss 19166990
nsv457620 CNV gain 19166990
nsv457621 CNV loss 19166990
nsv471115 CNV loss 18288195
nsv482951 CNV loss 15286789
nsv509638 CNV insertion 20534489
nsv519104 CNV loss 19592680
nsv521217 CNV loss 19592680
nsv524478 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573720 CNV gain 21841781
nsv573721 CNV loss 21841781
nsv573723 CNV gain 21841781
nsv573724 CNV loss 21841781
nsv827841 CNV loss 20364138
nsv952072 CNV deletion 24416366

Variation tolerance for ACSF3 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSF3 Gene

Human Gene Mutation Database (HGMD)
ACSF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSF3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSF3 Gene

Disorders for ACSF3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACSF3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined malonic and methylmalonic aciduria
  • cmamma
methylmalonic acidemia
  • methylmalonic aciduria
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search ACSF3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACSF3_HUMAN
  • 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. {ECO:0000269 PubMed:21841779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACSF3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACSF3: view

No data available for Genatlas for ACSF3 Gene

Publications for ACSF3 Gene

  1. Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis. (PMID: 21846720) Witkowski A … Smith S (The Journal of biological chemistry 2011) 2 3 4
  2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins PA … Pevsner J (Journal of lipid research 2007) 2 3 4
  3. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (PMID: 21841779) Sloan JL … Venditti CP (Nature genetics 2011) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  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. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

ExternalLinks

View latest publications for ACSF3 gene in Mastermind

Products for ACSF3 Gene

Sources for ACSF3 Gene