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Aliases for ACSM6 Gene

Aliases for ACSM6 Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 6 2 3 4 5
  • EC 6.2.1.2 4 61
  • C10orf129 3 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 61

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 Mitochondrial Fatty Acid Beta-Oxidation and fatty acid beta-oxidation (peroxisome). GO annotations related to this gene include GTP binding and butyrate-CoA ligase activity. An important paralog of this gene is ACSM4.

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

Regulatory Elements for ACSM6 Gene

Enhancers for ACSM6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G094901 0.9 ENCODE 31.1 -290.5 -290512 4.7 FOXA2 PKNOX1 ARID4B YY1 FOS SP5 JUNB PPARG KAT8 MIER3 ACSM6 CYP2C19 CYP2C115P GC10M094889
GH10G094679 0.9 ENCODE 27.8 -512.0 -512021 5.4 FOXA2 KLF17 RAD21 RARA YY1 SCRT2 CREM MIXL1 THAP11 SP5 ACSM6 CYP2C19 MTND4P19 NOC3L CYP2C9 CYP2C18 CTBP2P2
GH10G095259 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +70.3 70335 10.2 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 FEZF1 ZNF766 FOS ZNF263 PDLIM1 CYP2C8 NOC3L ACSM6 GC10M095264 GC10M095235
GH10G094676 0.7 ENCODE 27.8 -516.9 -516890 1.7 CTCF TAF1 MAX ZNF644 ZBTB40 RAD21 YY1 JUND GATA3 ATF3 ACSM6 CYP2C18 CTBP2P2
GH10G094997 0.7 Ensembl ENCODE 26.1 -196.5 -196458 0.9 JUND TEAD4 ACSM6 CYP2C19 PIR31621 GC10P094956
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACSM6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACSM6 Gene

Chromosome:
10
Start:
95,194,200 bp from pter
End:
95,228,929 bp from pter
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;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

    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

Protein Domains for ACSM6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSM6 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ACSM6 Gene

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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 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

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

(10) Drugs for ACSM6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Butyric Acid Experimental Pharma Full agonist, Agonist 380
Guanosine triphosphate Experimental Pharma 0
Heptanoic acid Experimental Pharma 0

(35) 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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 :
(7) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
ACSM6

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:

ACSM6

Evidence on tissue expression from TISSUES for ACSM6 Gene

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

Primer Products

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 34
  • 99.24 (n)
C10orf129 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf129 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 37 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11391 35
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 35
  • 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)

Paralogs for ACSM6 Gene

Paralogs for ACSM6 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000095820 -- 95,228,735(+) CTGGT(A/G)GTCTG reference, stop-gained
rs1000172644 -- 95,201,335(+) CCAAT(A/G)TCTAT intron-variant
rs1000242896 -- 95,223,465(+) AAGGA(A/G)CATAT intron-variant
rs1000275073 -- 95,208,705(+) TTGTT(C/G/T)TTGTT intron-variant
rs1000299014 -- 95,228,418(+) CATTA(C/T)TCTTG 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)

Relevant External Links for ACSM6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSM6

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

Disorders for ACSM6 Gene

Relevant External Links for ACSM6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.J. … Kingsmore S.F. (Sci Transl Med 2013) 2 3 64
  2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson S.A. … Youle R.J. (Nature 2013) 3 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 4 64

Products for ACSM6 Gene

Sources for ACSM6 Gene

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