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Aliases for ACSM5 Gene

Aliases for ACSM5 Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 5 2 3 4 5
  • EC 6.2.1.2 4 63
  • EC 6.2.1 63
  • MACS3 4

External Ids for ACSM5 Gene

Previous GeneCards Identifiers for ACSM5 Gene

  • GC16P020329
  • GC16P018957

Summaries for ACSM5 Gene

GeneCards Summary for ACSM5 Gene

ACSM5 (Acyl-CoA Synthetase Medium-Chain Family Member 5) is a Protein Coding gene. Among its related pathways are Metabolism and Butanoate metabolism. GO annotations related to this gene include GTP binding and butyrate-CoA ligase activity. An important paralog of this gene is ACSM2B.

UniProtKB/Swiss-Prot for ACSM5 Gene

  • Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM5 Gene

Genomics for ACSM5 Gene

Regulatory Elements for ACSM5 Gene

Genomic Location for ACSM5 Gene

Chromosome:
16
Start:
20,409,520 bp from pter
End:
20,441,336 bp from pter
Size:
31,817 bases
Orientation:
Plus strand

Genomic View for ACSM5 Gene

Genes around ACSM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM5 Gene

Proteins for ACSM5 Gene

  • Protein details for ACSM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUN0-ACSM5_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM5, mitochondrial
    Protein Accession:
    Q6NUN0
    Secondary Accessions:
    • Q96AV1
    • Q96CX8
    • Q9NWV3

    Protein attributes for ACSM5 Gene

    Size:
    579 amino acids
    Molecular mass:
    64760 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91273.1; Type=Frameshift; Positions=560; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSM5 Gene

Proteomics data for ACSM5 Gene at MOPED

Post-translational modifications for ACSM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSM5 Gene

Domains & Families for ACSM5 Gene

Gene Families for ACSM5 Gene

Protein Domains for ACSM5 Gene

Suggested Antigen Peptide Sequences for ACSM5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NUN0

UniProtKB/Swiss-Prot:

ACSM5_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 ACSM5: view

Function for ACSM5 Gene

Molecular function for ACSM5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Enzyme Numbers (IUBMB) for ACSM5 Gene

Gene Ontology (GO) - Molecular Function for ACSM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACSM5: view
genes like me logo Genes that share phenotypes with ACSM5: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACSM5 Gene

Localization for ACSM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM5 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACSM5 Gene COMPARTMENTS Subcellular localization image for ACSM5 gene
Compartment Confidence
mitochondrion 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ACSM5 Gene

Pathways & Interactions for ACSM5 Gene

genes like me logo Genes that share pathways with ACSM5: view

Pathways by source for ACSM5 Gene

Interacting Proteins for ACSM5 Gene

Gene Ontology (GO) - Biological Process for ACSM5 Gene

None

No data available for SIGNOR curated interactions for ACSM5 Gene

Drugs & Compounds for ACSM5 Gene

(11) Drugs for ACSM5 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 292
Diphosphate Experimental Pharma 0
Heptanoic acid Experimental Pharma 0

(33) Additional Compounds for ACSM5 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 ACSM5: view

Transcripts for ACSM5 Gene

Unigene Clusters for ACSM5 Gene

Acyl-CoA synthetase medium-chain family member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2:
SP3: -
SP4: -
SP5: -
SP6:

Relevant External Links for ACSM5 Gene

GeneLoc Exon Structure for
ACSM5
ECgene alternative splicing isoforms for
ACSM5

Expression for ACSM5 Gene

mRNA expression in normal human tissues for ACSM5 Gene

mRNA differential expression in normal tissues according to GTEx for ACSM5 Gene

This gene is overexpressed in Liver (x26.2).

Protein differential expression in normal tissues from HIPED for ACSM5 Gene

This gene is overexpressed in Liver (36.6) and Gallbladder (32.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACSM5 Gene



SOURCE GeneReport for Unigene cluster for ACSM5 Gene Hs.659606

mRNA Expression by UniProt/SwissProt for ACSM5 Gene

Q6NUN0-ACSM5_HUMAN
Tissue specificity: Detected in kidney and liver.
genes like me logo Genes that share expression patterns with ACSM5: view

Protein tissue co-expression partners for ACSM5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ACSM5 Gene

Orthologs for ACSM5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACSM5 35
  • 88.16 (n)
  • 90.29 (a)
ACSM5 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACSM5 35
  • 85.95 (n)
  • 85.66 (a)
ACSM5 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acsm5 35
  • 84.26 (n)
  • 86.33 (a)
Acsm5 16
Acsm5 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACSM5 35
  • 98.56 (n)
  • 98.45 (a)
ACSM5 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsm5 35
  • 82.93 (n)
  • 82.87 (a)
oppossum
(Monodelphis domestica)
Mammalia ACSM5 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACSM5 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSM5 35
  • 65.13 (n)
  • 62.65 (a)
-- 36
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACSM5 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9993 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
ManyToMany
Species with no ortholog for ACSM5:
  • 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)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ACSM5 Gene

ENSEMBL:
Gene Tree for ACSM5 (if available)
TreeFam:
Gene Tree for ACSM5 (if available)

Paralogs for ACSM5 Gene

Paralogs for ACSM5 Gene

(7) SIMAP similar genes for ACSM5 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ACSM5 Gene

genes like me logo Genes that share paralogs with ACSM5: view

Variants for ACSM5 Gene

Sequence variations from dbSNP and Humsavar for ACSM5 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_035252 -
rs8062344 - 20,429,731(+) CAACC(C/G)TGACG reference, missense
rs12931877 - 20,429,755(+) GAAAC(A/C/G/T)CCAGA reference, missense
VAR_035255 -
rs9928053 - 20,411,678(+) GAGTC(A/G)GCTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACSM5 Gene

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv905570 CNV Gain 21882294
nsv510415 CNV Loss 20534489
dgv826e1 CNV Complex 17122850
esv1311 CNV CNV 17122850
esv2668335 CNV Deletion 23128226

Variation tolerance for ACSM5 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.58; 98.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSM5 Gene

HapMap Linkage Disequilibrium report
ACSM5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM5 Gene

Disorders for ACSM5 Gene

Relevant External Links for ACSM5

Genetic Association Database (GAD)
ACSM5
Human Genome Epidemiology (HuGE) Navigator
ACSM5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSM5

No disorders were found for ACSM5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSM5 Gene

Publications for ACSM5 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. (PMID: 17762044) Watkins P.A. … Pevsner J. (J. Lipid Res. 2007) 2 3
  3. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3

Products for ACSM5 Gene

Sources for ACSM5 Gene

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