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ACSM1 Gene(Protein Coding)

Acyl-CoA Synthetase Medium-Chain Family Member 1

GCID:
GC16M020634
GIFtS:
58
Genes Participants
UDN Logo

Aliases for ACSM1 Gene

Aliases for ACSM1 Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 1 2 3 4 5
  • Middle-Chain Acyl-CoA Synthetase 1 3 4
  • Butyryl Coenzyme A Synthetase 1 2 3
  • Butyryl-Coenzyme A Synthetase 1 3 4
  • Lipoate-Activating Enzyme 3 4
  • Butyrate--CoA Ligase 1 3 4
  • EC 6.2.1.2 4 61
  • BUCS1 3 4
  • MACS1 3 4
  • Acyl-Coenzyme A Synthetase ACSM1, Mitochondrial 3
  • Medium-Chain Acyl-CoA Synthetase 3
  • Butyrate CoA Ligase 3
  • EC 6.2.1 61
  • 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 Conjugation of carboxylic acids and fatty acid beta-oxidation (peroxisome). GO annotations related to this gene include GTP binding and fatty acid ligase activity. An important paralog of this gene is ACSM5.

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).

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

Products:

  1. Regulatory Element

Regulatory Elements for ACSM1 Gene

Enhancers for ACSM1 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
GH16G020673 1.1 ENCODE 26.1 +23.2 23192 5.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF766 ACSM1 THUMPD1 ACSM3 LOC105379461
GH16G020611 1 ENCODE dbSUPER 28.4 +86.8 86813 1.6 GATAD2A SAP130 ARID4B ZNF644 ZNF48 RAD21 KAT8 YY1 KLF16 ADNP ACSM1 ENSG00000275315 ACSM3
GH16G020896 1.8 FANTOM5 ENCODE dbSUPER 11.8 -203.8 -203766 11.5 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 DCUN1D3 ACSM3 THUMPD1 ACSM1 LYRM1 CRYM PIR35456
GH16G020876 1.4 Ensembl ENCODE dbSUPER 12.5 -181.0 -181042 6.3 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A ZNF48 YY1 ZNF121 GATA2 ACSM3 THUMPD1 DCUN1D3 ACSM1 TMEM159 DNAH3 LYRM1 PIR58963
GH16G020587 1.2 Ensembl ENCODE 13.8 +111.0 111011 1.5 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF766 SP5 NFYC ACSM1 REXO5 ACSM5 GC16P020588 LOC105371120
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACSM1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ACSM1 gene promoter:

Genomic Location for ACSM1 Gene

Chromosome:
16
Start:
20,623,233 bp from pter
End:
20,698,890 bp from pter
Size:
75,658 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 Structure • Gene Density

RefSeq DNA sequence for ACSM1 Gene

Proteins for ACSM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ACSM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSM1 Gene

Q08AH1:
  • SGYRIGP
  • LPKTITGKI
  • TAPYKYPRK
  • DILYRLQ
  • PAFWWVNG
  • VAESAVV
  • RGEVVKAF
  • APYKYPR

Post-translational modifications for ACSM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACSM1 Gene

Gene Families for ACSM1 Gene

HGNC:

Protein Domains for ACSM1 Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ACSM1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + lipoate = diphosphate + lipoyl-GMP.
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).

Enzyme Numbers (IUBMB) 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

Clone Products

Flow Cytometry 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 IDA 19056867
genes like me logo Genes that share ontologies with ACSM1: view

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

Products:

  1. Drug

(11) 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 Nutra 0
Adenosine triphosphate Approved Nutra 0
Butyric Acid Experimental Pharma Full agonist, Agonist 380
Guanosine triphosphate Experimental Pharma 0

(38) 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
  • (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 ACSM1: view

Transcripts for ACSM1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACSM1 Gene

(11) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACSM1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ACSM1 Gene
mRNA expression by BioGPS for ACSM1 GenemRNA expression by GTEx 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, PaxDb, 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

Primer Products

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 34
  • 96.81 (n)
cow
(Bos Taurus)
 Mammalia ACSM1 34 35
  • 82.23 (n)
mouse
(Mus musculus)
 Mammalia Acsm1 34 16 35
  • 78.24 (n)
rat
(Rattus norvegicus)
 Mammalia Acsm1 34
  • 78.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 70 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia ACSM1 35
  • 60 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG11407 35
  • 19 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea acs-16 35
  • 18 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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)

Paralogs for ACSM1 Gene

Paralogs for ACSM1 Gene

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

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 Sequence Context AA Info Type
rs1000038699 -- 20,655,248(+) TGTTG(C/T)GGGGT intron-variant
rs1000038876 -- 20,672,941(+) TAAAA(-/AC)ATTTA intron-variant, upstream-variant-2KB
rs1000044672 -- 20,658,403(+) AATGT(C/G)TTCTC intron-variant
rs1000077365 -- 20,658,208(+) AACTA(A/G)TTTAC intron-variant
rs1000187317 -- 20,680,262(+) AGGAG(C/G)AGGCC intron-variant

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

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

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)

Relevant External Links for ACSM1 Gene

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

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
  • woolly hair, autosomal recessive 2 with or without hypotrichosis
- elite association - COSMIC cancer census association via MalaCards
Search ACSM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACSM1

Genetic Association Database (GAD)
ACSM1
Human Genome Epidemiology (HuGE) Navigator
ACSM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSM1
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 T.T. (J. Biol. Chem. 2001) 2 3 4 22 64
  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. (J. Hypertens. 2004) 3 22 46 64
  3. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. (PMID: 20185149) Athanasiu L. … Andreassen O.A. (J Psychiatr Res 2010) 3 46 64

Products for ACSM1 Gene

Sources for ACSM1 Gene

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