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Aliases for ACSM5 Gene

Aliases for ACSM5 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 5 2 3 5
  • EC 6.2.1.2 4 56
  • Acyl-CoA Synthetase Medium-Chain Family Member 5 4
  • EC 6.2.1 56
  • 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 fatty acid beta-oxidation (peroxisome) and Metabolism. 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 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).

Additional gene information for ACSM5 Gene

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

Genomics for ACSM5 Gene

GeneHancer (GH) Regulatory Elements for ACSM5 Gene

Promoters and enhancers for ACSM5 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
GH16I020408 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 576.3 +0.3 252 1.7 BATF IRF4 RAD21 YY1 ETV6 RUNX3 RXRA JUNB ZHX2 ELF1 ACSM5 PIR37559
GH16I020439 Enhancer 0.6 Ensembl ENCODE 31.8 +30.5 30521 1.7 RXRA HNF4A RAD21 ACSM5 LOC105371119 PIR37559
GH16I020424 Enhancer 0.9 ENCODE 21 +15.2 15154 1.1 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 RXRA SP5 NFYC MXD4 ACSM5 PIR37559
GH16I020426 Enhancer 0.8 ENCODE 10.4 +17.2 17181 1.1 ELF3 FOXA2 MLX ARID4B THRB ZSCAN9 RARA SMARCC2 ATF7 CREM ACSM5 PDILT PIR37559
GH16I020515 Enhancer 0.8 ENCODE 8.3 +106.7 106655 2.2 ELF3 RAD21 ZSCAN9 RARA MIER2 PPARG RCOR2 CEBPA HNF4A KDM1A ACSM5 ERI2 ENSG00000280306 ACSM2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSM5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSM5 gene promoter:

Genomic Locations for ACSM5 Gene

Genomic Locations for ACSM5 Gene
chr16:20,409,520-20,441,336
(GRCh38/hg38)
Size:
31,817 bases
Orientation:
Plus strand
chr16:20,420,856-20,452,658
(GRCh37/hg19)

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

Selected DME Specific Peptides for ACSM5 Gene

Q6NUN0:
  • TAPYKYPRK
  • GNVLPPG
  • ELPKTVSGK
  • PAFWWVNG
  • GTTGAPK
  • VACMRTG
  • ESAVVSSPD
  • RGEVVKAF
  • ALAEHPAV
  • LRHCLTGGE
  • SRKAANVL
  • APYKYPR

Post-translational modifications for ACSM5 Gene

No Post-translational modifications

Other Protein References for ACSM5 Gene

Domains & Families for ACSM5 Gene

Gene Families for ACSM5 Gene

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

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

Phenotypes From GWAS Catalog for ACSM5 Gene

Gene Ontology (GO) - Molecular Function for ACSM5 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 ACSM5: view
genes like me logo Genes that share phenotypes with ACSM5: view

Clone 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
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 ACSM5 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ACSM5 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 ACSM5: view

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

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 ACSM5: view

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, Investigational Nutra 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 408
Heptanoic acid Experimental, Investigational 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ACSM5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSM5 Gene:

ACSM5

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.

Evidence on tissue expression from TISSUES for ACSM5 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with ACSM5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ACSM5 33 34
  • 98.56 (n)
cow
(Bos Taurus)
Mammalia ACSM5 33 34
  • 88.16 (n)
dog
(Canis familiaris)
Mammalia ACSM5 33 34
  • 85.95 (n)
mouse
(Mus musculus)
Mammalia Acsm5 33 16 34
  • 84.26 (n)
rat
(Rattus norvegicus)
Mammalia Acsm5 33
  • 82.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACSM5 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACSM5 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSM5 33
  • 65.13 (n)
-- 34
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACSM5 34
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9993 34
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
ManyToMany
Species where no ortholog for ACSM5 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)
  • 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 Variation AA Info Type
rs1000014215 -- 20,438,716(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000078446 -- 20,411,833(+) T/C intron_variant
rs1000128255 -- 20,439,076(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000166268 -- 20,420,094(+) A/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000412481 -- 20,408,540(+) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv984287 CNV duplication 23825009
nsv510415 OTHER sequence alteration 20534489
nsv436835 CNV insertion 17901297
nsv1079028 OTHER inversion 25765185
nsv1051811 CNV loss 25217958
nsv1047399 CNV gain 25217958
nsv1046952 CNV loss 25217958
esv3638140 CNV loss 21293372
esv3638138 CNV gain 21293372
esv3582087 CNV loss 25503493
esv3553214 CNV deletion 23714750
esv2758635 CNV loss 17122850
esv2668335 CNV deletion 23128226
dgv4942n54 CNV gain 21841781
dgv2795n100 CNV gain 25217958

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)

Additional Variant Information for ACSM5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSM5

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

Disorders for ACSM5 Gene

Additional Disease Information for ACSM5

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

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 SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3 58

Products for ACSM5 Gene

Sources for ACSM5 Gene

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