Aliases for ACSM6 Gene

Aliases for ACSM6 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 6 2 3 5
  • Acyl-Coenzyme A Synthetase ACSM6, Mitochondrial 3 4
  • EC 6.2.1.2 4 52
  • C10orf129 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 6 4
  • Chromosome 10 Open Reading Frame 129 2
  • AMP-Binding Enzyme 3
  • BA310E22.3 3
  • EC 6.2.1 52

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. Diseases associated with ACSM6 include Valproate Embryopathy. 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.

UniProtKB/Swiss-Prot Summary for ACSM6 Gene

  • Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism.

Additional gene information for ACSM6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J095196 Enhancer 0.6 Ensembl ENCODE 500.7 +1.7 1701 1.4 TEAD4 HDAC2 YY1 TCF12 CTBP2 TAF7 ACSM6 CYP2C8 lnc-PDLIM1-3
GH10J095194 Promoter 0.4 EPDnew 500.7 +0.0 19 0.1 SCRT2 ACSM6 lnc-PDLIM1-3
GH10J095195 Enhancer 0.3 ENCODE 500.7 -0.1 -111 0.2 SCRT2 ACSM6 lnc-ACSM6-2
GH10J094679 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 27.8 -511.8 -511769 5.9 TCF12 NCOR1 TEAD1 ZKSCAN8 FOXA2 NR2F2 CREB1 CEBPB SAP130 FOSL2 CYP2C18 ACSM6 CYP2C19 MTND4P19 NOC3L CYP2C9 piR-33605-061
GH10J094901 Promoter/Enhancer 1.2 EPDnew ENCODE 31.1 -290.5 -290511 4.7 TCF12 NCOR1 KDM6A KLF4 ZBTB25 SKI TEAD1 TBX3 ZSCAN9 FOXA2 CYP2C9 ACSM6 CYP2C19 CYP2C115P piR-47086-042
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSM6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSM6

Genomic Locations for ACSM6 Gene

Genomic Locations for ACSM6 Gene
chr10:95,194,200-95,228,929
(GRCh38/hg38)
Size:
34,730 bases
Orientation:
Plus strand
chr10:96,953,957-96,988,686
(GRCh37/hg19)
Size:
34,730 bases
Orientation:
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:
    Q6P461-ACSM6_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM6, mitochondrial
    Protein Accession:
    Q6P461
    Secondary Accessions:
    • A4FU95
    • A4IF38
    • Q5VZX2
    • Q6ZTX1

    Protein attributes for ACSM6 Gene

    Size:
    480 amino acids
    Molecular mass:
    53585 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAI04211.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI04212.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI12989.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSM6 Gene

Selected DME Specific Peptides for ACSM6 Gene

Q6P461:
  • LDIYEGYGQTET
  • GTTGAPK
  • FNFAKDVLDQW

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

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

Protein Domains for ACSM6 Gene

Blocks:
  • AMP-binding signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSM6 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-coenzyme A synthetase ACSM6, mitochondrial (ACSM6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P461

UniProtKB/Swiss-Prot:

ACSM6_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 ACSM6: view

Function for ACSM6 Gene

Molecular function for ACSM6 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:48340, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:59558, ChEBI:CHEBI:90546, ChEBI:CHEBI:456215; EC=6.2.1.2; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48341; Evidence=. ;.

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 21873635
GO:0004321 fatty-acyl-CoA synthase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with ACSM6: view
genes like me logo Genes that share phenotypes with ACSM6: view

Animal Model Products

CRISPR Products

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

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 ACSM6 gene
Compartment Confidence
mitochondrion 4
cytosol 1
peroxisome 0
nucleus 0

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 21873635
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 21873635
GO:0006637 acyl-CoA metabolic process IBA 21873635
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
Magnesium Approved, Experimental, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 23
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
(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 ACSM6: view

Transcripts for ACSM6 Gene

mRNA/cDNA for ACSM6 Gene

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

CRISPR Products

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
SP1:
SP2: - -
SP3: -

Relevant External Links for ACSM6 Gene

GeneLoc Exon Structure for
ACSM6

Expression for ACSM6 Gene

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACSM6

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
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf129 30
  • 99.24 (n)
C10orf129 31
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf129 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11391 31
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 31
  • 13 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ACSM6 (if available)
TreeFam:
Gene Tree for ACSM6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSM6: view image

Paralogs for ACSM6 Gene

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

  • ACSM6_HUMAN

Pseudogenes.org Pseudogenes for ACSM6 Gene

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

Variants for ACSM6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSM6 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11188225 - p.Cys40Ser
rs591157 - p.Glu19Gly
rs7090248 - p.Lys227Arg

Additional dbSNP identifiers (rs#s) for ACSM6 Gene

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
ACSM6

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACSM6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSM6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
valproate embryopathy
  • valproate embryopathy, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ACSM6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSM6

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

No data available for 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 54
  2. Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin. (PMID: 27351777) van der Sluis R … Erasmus E (Expert opinion on drug metabolism & toxicology 2016) 4 54
  3. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson SA … Youle RJ (Nature 2013) 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. 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 54

Products for ACSM6 Gene

Sources for ACSM6 Gene