Aliases for ACSM5 Gene

Aliases for ACSM5 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 5 2 3 5
  • Acyl-Coenzyme A Synthetase ACSM5, Mitochondrial 3 4
  • EC 6.2.1.2 4 51
  • Acyl-CoA Synthetase Medium-Chain Family Member 5 4
  • FLJ20581 2
  • EC 6.2.1 51
  • ACSM5 5
  • 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. Diseases associated with ACSM5 include Herpetic Whitlow. Among its related pathways are Cytochrome P450 - arranged by substrate type 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 Summary for ACSM5 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 ACSM5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSM5 Gene

Genomics for ACSM5 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH16J020408 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 626.2 +0.7 667 2.8 HNRNPL GATAD2A REST RBFOX2 BRD4 SP1 CEBPA EED SOX13 TAF1 ACSM5 piR-34822-119 piR-44560-001 ACSM2A
GH16J020439 Enhancer 0.6 Ensembl ENCODE 31.8 +30.4 30407 1.9 SP1 RAD21 HNF4A RXRA ACSM5 ENSG00000262995 piR-44560-001 ACSM2A
GH16J020424 Enhancer 0.9 ENCODE 21 +15.1 15140 1.1 GATAD2A REST TFE3 RCOR2 RXRB IRF2 SP1 PBX2 CEBPA KMT2B ACSM5 piR-44560-001 ACSM2A
GH16J019857 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.6 -549.1 -549087 4.9 ATF7 POLR2A EGR1 FOXA2 ZBTB17 YY1 ZFHX2 EBF1 SIN3A GLIS1 lnc-KNOP1-3 KNOP1 GPRC5B VPS35L ACSM5 lnc-KNOP1-2 IQCK NONHSAG018797.2
GH16J020426 Enhancer 0.8 ENCODE 10.4 +17.2 17167 1.1 GATAD2A ATF7 TFE3 RCOR2 RXRB IRF2 SP1 CEBPA FOXK2 SOX13 ACSM5 PDILT piR-44560-001 ACSM2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSM5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSM5

Top Transcription factor binding sites by QIAGEN in the ACSM5 gene promoter:
  • AP-1
  • AP-4
  • HEN1
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • PPAR-alpha
  • Sox9
  • STAT3

Genomic Locations for ACSM5 Gene

Genomic Locations for ACSM5 Gene
chr16:20,409,534-20,441,336
(GRCh38/hg38)
Size:
31,803 bases
Orientation:
Plus strand
chr16:20,420,856-20,452,658
(GRCh37/hg19)
Size:
31,803 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;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91273.1; Type=Frameshift; 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACSM5 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-coenzyme A synthetase ACSM5, mitochondrial (ACSM5_HUMAN)

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 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;.

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:0000166 nucleotide binding IEA --
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 --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM5

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 4
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 21873635
genes like me logo Genes that share ontologies with ACSM5: view

Pathways & Interactions for ACSM5 Gene

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

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 21873635
GO:0006637 acyl-CoA metabolic process IBA 21873635
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
Magnesium Approved, Experimental, Investigational Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Manganese Approved Nutra 56
Butyric Acid Experimental, Investigational Pharma Agonist, Full agonist 25
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
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 ACSM5: view

Transcripts for ACSM5 Gene

mRNA/cDNA for ACSM5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM5

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

Expression for ACSM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACSM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for ACSM5 Gene



Protein tissue co-expression partners for ACSM5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with ACSM5: view

No data available for 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 30 31
  • 98.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACSM5 30 31
  • 88.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACSM5 30 31
  • 85.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acsm5 30 17 31
  • 84.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acsm5 30
  • 82.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ACSM5 31
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACSM5 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACSM5 30
  • 65.13 (n)
-- 31
  • 58 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia ACSM5 31
  • 55 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9993 31
  • 20 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acs-16 31
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
ManyToMany
Species where no ortholog for ACSM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACSM5: view image

Paralogs for ACSM5 Gene

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

  • ACSM5_HUMAN
  • I3L536_HUMAN

Pseudogenes.org Pseudogenes for ACSM5 Gene

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

Variants for ACSM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSM5 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
684520 Not Provided: not provided 20,431,024(+) A/C MISSENSE_VARIANT
769418 Benign: not provided 20,427,877(+) G/A INTRON_VARIANT
769419 Benign: not provided 20,429,755(+) A/G MISSENSE_VARIANT
rs12931877 - p.His360Arg
rs554734865 - p.Thr533Met

Additional dbSNP identifiers (rs#s) for ACSM5 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACSM5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSM5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
herpetic whitlow
  • herpetic felon
- elite association - COSMIC cancer census association via MalaCards
Search ACSM5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSM5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACSM5: view

No data available for 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 41
  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
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. 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
  5. 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

Products for ACSM5 Gene

  • Signalway Proteins for ACSM5

Sources for ACSM5 Gene