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Aliases for ACSM1 Gene

Aliases for ACSM1 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 1 2 3 5
  • Middle-Chain Acyl-CoA Synthetase 1 3 4
  • Butyryl-Coenzyme A Synthetase 1 3 4
  • Butyryl Coenzyme A Synthetase 1 2 3
  • Lipoate-Activating Enzyme 3 4
  • Butyrate--CoA Ligase 1 3 4
  • BUCS1 3 4
  • MACS1 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 1 4
  • Acyl-Coenzyme A Synthetase ACSM1, Mitochondrial 3
  • Medium-Chain Acyl-CoA Synthetase 3
  • Butyrate CoA Ligase 3
  • EC 6.2.1.2 4
  • LAE 4

External Ids for ACSM1 Gene

Previous HGNC Symbols for ACSM1 Gene

  • BUCS1

Previous GeneCards Identifiers for ACSM1 Gene

  • GC16M020543
  • GC16M019170

Summaries for ACSM1 Gene

GeneCards Summary for ACSM1 Gene

ACSM1 (Acyl-CoA Synthetase Medium Chain Family Member 1) is a Protein Coding gene. Diseases associated with ACSM1 include Hypotrichosis 7. Among its related pathways are Metabolism and Valproic Acid Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include GTP binding and fatty acid ligase activity. An important paralog of this gene is ACSM2B.

UniProtKB/Swiss-Prot for ACSM1 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). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity).

Additional gene information for ACSM1 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 ACSM1 Gene

Genomics for ACSM1 Gene

GeneHancer (GH) Regulatory Elements for ACSM1 Gene

Promoters and enhancers for ACSM1 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
GH16J020697 Promoter 1.1 EPDnew 650.7 +1.2 1193 0.1 FOXA2 ARID4B RARA CREM HMG20B RXRA CEBPB MXD4 MIER2 SREBF1 ACSM1 LOC105379461 ACSM3
GH16J020673 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.1 +23.2 23191 5.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B POLR2B ACSM3 LOC105379461 ACSM1
GH16J020896 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 -203.8 -203766 11.5 CLOCK DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 DCUN1D3 LYRM1 THUMPD1 ACSM3 SMG1P3 ACSM1 CRYM ERI2 PIR35456 GC16P020829
GH16J020804 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.7 -107.8 -107849 3.6 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 REXO5 ERI2 SMG1P3 THUMPD1 NPIPB3 ACSM1 ACSM3 ENSG00000275908
GH16J020739 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -42.2 -42167 2.8 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 THUMPD1 ACSM3 ACSM1 ENSG00000285303
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSM1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • GATA-1
  • POU2F1a
  • POU2F1
  • Lmo2

Genomic Locations for ACSM1 Gene

Genomic Locations for ACSM1 Gene
chr16:20,623,233-20,698,890
(GRCh38/hg38)
Size:
75,658 bases
Orientation:
Minus strand
chr16:20,634,559-20,710,212
(GRCh37/hg19)
Size:
75,654 bases
Orientation:
Minus strand

Genomic View for ACSM1 Gene

Genes around ACSM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM1 Gene

Proteins for ACSM1 Gene

  • Protein details for ACSM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AH1-ACSM1_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM1, mitochondrial
    Protein Accession:
    Q08AH1
    Secondary Accessions:
    • Q08AH2
    • Q96A20

    Protein attributes for ACSM1 Gene

    Size:
    577 amino acids
    Molecular mass:
    65273 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for ACSM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSM1 Gene

Post-translational modifications for ACSM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACSM1 Gene

Domains & Families for ACSM1 Gene

Gene Families for ACSM1 Gene

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

Protein Domains for ACSM1 Gene

Suggested Antigen Peptide Sequences for ACSM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08AH1

UniProtKB/Swiss-Prot:

ACSM1_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 ACSM1: view

Function for ACSM1 Gene

Molecular function for ACSM1 Gene

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). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + lipoate = diphosphate + lipoyl-GMP.

Enzyme Numbers (IUBMB) for ACSM1 Gene

Phenotypes From GWAS Catalog for ACSM1 Gene

Gene Ontology (GO) - Molecular Function for ACSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IDA 11470804
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 ACSM1: view
genes like me logo Genes that share phenotypes with ACSM1: view

Animal Model Products

CRISPR Products

miRNA for ACSM1 Gene

miRTarBase miRNAs that target ACSM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACSM1 Gene

Localization for ACSM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM1 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 ACSM1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ACSM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM1 Gene

Pathways & Interactions for ACSM1 Gene

genes like me logo Genes that share pathways with ACSM1: view

Gene Ontology (GO) - Biological Process for ACSM1 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:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with ACSM1: view

No data available for SIGNOR curated interactions for ACSM1 Gene

Drugs & Compounds for ACSM1 Gene

(12) Drugs for ACSM1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 408
Guanosine triphosphate Experimental Pharma 0

(37) Additional Compounds for ACSM1 Gene - From: HMDB and Novoseek

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 ACSM1: view

Transcripts for ACSM1 Gene

mRNA/cDNA for ACSM1 Gene

Unigene Clusters for ACSM1 Gene

Acyl-CoA synthetase medium-chain family member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM1 Gene

No ASD Table

Relevant External Links for ACSM1 Gene

GeneLoc Exon Structure for
ACSM1
ECgene alternative splicing isoforms for
ACSM1

Expression for ACSM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSM1 Gene

This gene is overexpressed in Testis (x4.8) and Prostate (x4.1).

Protein differential expression in normal tissues from HIPED for ACSM1 Gene

This gene is overexpressed in Heart (21.0), Liver (11.6), Testis (9.1), and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACSM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACSM1 Gene:

ACSM1

SOURCE GeneReport for Unigene cluster for ACSM1 Gene:

Hs.306812

Evidence on tissue expression from TISSUES for ACSM1 Gene

  • Liver(4.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with ACSM1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSM1 Gene

Orthologs for ACSM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSM1 33
  • 96.81 (n)
cow
(Bos Taurus)
Mammalia ACSM1 34 33
  • 82.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acsm1 16 34 33
  • 78.24 (n)
rat
(Rattus norvegicus)
Mammalia Acsm1 33
  • 78.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ACSM1 34
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11407 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
ManyToMany
Species where no ortholog for ACSM1 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 ACSM1 Gene

ENSEMBL:
Gene Tree for ACSM1 (if available)
TreeFam:
Gene Tree for ACSM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSM1: view image

Paralogs for ACSM1 Gene

Paralogs for ACSM1 Gene

(10) SIMAP similar genes for ACSM1 Gene using alignment to 3 proteins:

  • ACSM1_HUMAN
  • E5RFK0_HUMAN
  • H0YAU5_HUMAN

Pseudogenes.org Pseudogenes for ACSM1 Gene

genes like me logo Genes that share paralogs with ACSM1: view

Variants for ACSM1 Gene

Sequence variations from dbSNP and Humsavar for ACSM1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000038699 -- 20,655,248(-) T/C intron_variant
rs1000038876 -- 20,672,941(-) ACA/A intron_variant
rs1000044672 -- 20,658,403(-) C/G intron_variant
rs1000077365 -- 20,658,208(-) A/G intron_variant
rs1000187317 -- 20,680,262(-) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSM1 Gene

Variant ID Type Subtype PubMed ID
nsv984289 CNV duplication 23825009
nsv833164 CNV loss 17160897
nsv571620 CNV gain 21841781
nsv516605 CNV loss 19592680
nsv509604 CNV insertion 20534489
nsv507809 OTHER sequence alteration 20534489
nsv436835 CNV insertion 17901297
nsv1761 CNV insertion 18451855
nsv1116516 OTHER inversion 24896259
esv3892809 CNV gain 25118596
esv3638152 CNV loss 21293372
esv3570420 CNV gain 25503493
dgv2799n100 CNV gain 25217958

Variation tolerance for ACSM1 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM1 Gene

Disorders for ACSM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotrichosis 7
  • hypt7
- elite association - COSMIC cancer census association via MalaCards
Search ACSM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACSM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSM1 Gene

Publications for ACSM1 Gene

  1. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. (PMID: 11470804) Fujino T … Yamamoto TT (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension. (PMID: 15361761) Haketa A … Matsumoto K (Journal of hypertension 2004) 3 22 44 58
  3. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. (PMID: 20185149) Athanasiu L … Andreassen OA (Journal of psychiatric research 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for ACSM1 Gene

Sources for ACSM1 Gene

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