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Aliases for ACSM6 Gene

Aliases for ACSM6 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 6 2 3 5
  • EC 4 56
  • C10orf129 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 6 4
  • Acyl-Coenzyme A Synthetase ACSM6, Mitochondrial 3
  • Chromosome 10 Open Reading Frame 129 2
  • AMP-Binding Enzyme 3
  • BA310E22.3 3
  • EC 6.2.1 56

External Ids for ACSM6 Gene

Previous HGNC Symbols for ACSM6 Gene

  • C10orf129

Summaries for ACSM6 Gene

GeneCards Summary for ACSM6 Gene

ACSM6 (Acyl-CoA Synthetase Medium Chain Family Member 6) is a Protein Coding gene. Among its related pathways are fatty acid beta-oxidation (peroxisome) and Mitochondrial Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include GTP binding and butyrate-CoA ligase activity. An important paralog of this gene is ACSM4.

Additional gene information for ACSM6 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM6 Gene

Genomics for ACSM6 Gene

GeneHancer (GH) Regulatory Elements for ACSM6 Gene

Promoters and enhancers for ACSM6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I095194 Promoter 0.6 EPDnew 550.8 +0.0 19 0.1 SCRT2 ACSM6 ENSG00000234026
GH10I095195 Enhancer 0.3 ENCODE 550.8 -0.1 -111 0.2 SCRT2 ACSM6 PAWRP1
GH10I095196 Enhancer 0.3 ENCODE 550.8 +1.7 1739 1 MAX ACSM6 CYP2C8 ENSG00000234026
GH10I094679 Promoter/Enhancer 1.4 EPDnew ENCODE 27.8 -512.0 -512020 5.4 FOXA2 KLF17 RAD21 RARA YY1 ZNF335 SCRT2 ATF7 CREM THAP11 CYP2C18 ACSM6 CYP2C19 MTND4P19 NOC3L CYP2C9 CTBP2P2
GH10I094901 Enhancer 0.9 ENCODE 31.1 -290.5 -290511 4.7 ELF3 FOXA2 ARID4B ZSCAN9 RAD21 RARA YY1 ATF7 CREM THAP11 ACSM6 CYP2C19 CYP2C115P GC10M094889
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSM6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ACSM6 Gene

Genomic Locations for ACSM6 Gene
34,730 bases
Plus strand

Genomic View for ACSM6 Gene

Genes around ACSM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM6 Gene

Proteins for ACSM6 Gene

  • Protein details for ACSM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acyl-coenzyme A synthetase ACSM6, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A4FU95
    • A4IF38
    • Q5VZX2
    • Q6ZTX1

    Protein attributes for ACSM6 Gene

    480 amino acids
    Molecular mass:
    53585 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    • Sequence=AAI04211.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI04212.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI12989.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH72344.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSM6 Gene


neXtProt entry for ACSM6 Gene

Selected DME Specific Peptides for ACSM6 Gene


Post-translational modifications for ACSM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSM6 Gene

Domains & Families for ACSM6 Gene

Gene Families for ACSM6 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ACSM6 Gene


Suggested Antigen Peptide Sequences for ACSM6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ATP-dependent AMP-binding enzyme family.
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSM6: view

Function for ACSM6 Gene

Molecular function for ACSM6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

Enzyme Numbers (IUBMB) for ACSM6 Gene

Phenotypes From GWAS Catalog for ACSM6 Gene

Gene Ontology (GO) - Molecular Function for ACSM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IBA --
GO:0004321 fatty-acyl-CoA synthase activity IBA --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with ACSM6: view

Phenotypes for ACSM6 Gene

genes like me logo Genes that share phenotypes with ACSM6: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACSM6 Gene

Localization for ACSM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM6 Gene


Subcellular locations from

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 ACSM6 gene
Compartment Confidence
mitochondrion 4
cytosol 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACSM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with ACSM6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM6 Gene

Pathways & Interactions for ACSM6 Gene

genes like me logo Genes that share pathways with ACSM6: view

Interacting Proteins for ACSM6 Gene

Gene Ontology (GO) - Biological Process for ACSM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IBA --
GO:0006637 acyl-CoA metabolic process IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACSM6: view

No data available for SIGNOR curated interactions for ACSM6 Gene

Drugs & Compounds for ACSM6 Gene

(11) Drugs for ACSM6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 408
Guanosine triphosphate Experimental Pharma 0
Heptanoic acid Experimental, Investigational Pharma 0

(34) Additional Compounds for ACSM6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (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
  • (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
genes like me logo Genes that share compounds with ACSM6: view

Transcripts for ACSM6 Gene

mRNA/cDNA for ACSM6 Gene

(1) REFSEQ mRNAs :
(7) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM6 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11
SP2: - -
SP3: -

Relevant External Links for ACSM6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACSM6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSM6 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACSM6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSM6 Gene:


Evidence on tissue expression from TISSUES for ACSM6 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with ACSM6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSM6 Gene

Orthologs for ACSM6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C10H10orf129 33
  • 99.24 (n)
C10orf129 34
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia C10orf129 34
  • 61 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11391 34
  • 15 (a)
(Caenorhabditis elegans)
Secernentea acs-16 34
  • 13 (a)
Species where no ortholog for ACSM6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ACSM6 Gene

Gene Tree for ACSM6 (if available)
Gene Tree for ACSM6 (if available)

Paralogs for ACSM6 Gene

Paralogs for ACSM6 Gene

(7) SIMAP similar genes for ACSM6 Gene using alignment to 1 proteins: Pseudogenes for ACSM6 Gene

genes like me logo Genes that share paralogs with ACSM6: view

Variants for ACSM6 Gene

Sequence variations from dbSNP and Humsavar for ACSM6 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000095820 -- 95,228,735(+) G/A coding_sequence_variant, stop_gained
rs1000172644 -- 95,201,335(+) G/A intron_variant
rs1000242896 -- 95,223,465(+) A/G intron_variant
rs1000275073 -- 95,208,705(+) T/C/G intron_variant
rs1000299014 -- 95,228,418(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSM6 Gene

Variant ID Type Subtype PubMed ID
esv22688 CNV gain+loss 19812545
nsv1110852 OTHER inversion 24896259
nsv820063 CNV gain 19587683
nsv825527 CNV gain 20364138

Variation tolerance for ACSM6 Gene

Gene Damage Index Score: 5.81; 73.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSM6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM6 Gene

Disorders for ACSM6 Gene

Additional Disease Information for ACSM6

No disorders were found for ACSM6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSM6 Gene

Publications for ACSM6 Gene

  1. An integrated clinico-metabolomic model improves prediction of death in sepsis. (PMID: 23884467) Langley RJ … Kingsmore SF (Science translational medicine 2013) 2 3 58
  2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson SA … Youle RJ (Nature 2013) 3 58
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4 58

Products for ACSM6 Gene

Sources for ACSM6 Gene

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