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ACSM1 acyl-CoA synthetase medium chain family member 1 [ Homo sapiens (human) ]

Gene ID: 116285, updated on 17-Jun-2019

Summary

Official Symbol
ACSM1provided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 1provided by HGNC
Primary source
HGNC:HGNC:18049
See related
Ensembl:ENSG00000166743 MIM:614357
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BUCS1; MACS1
Expression
Broad expression in prostate (RPKM 1.3), ovary (RPKM 1.3) and 18 other tissues See more
Orthologs

Genomic context

See ACSM1 in Genome Data Viewer
Location:
16p12.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (20623235..20697788, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20634555..20709066, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984831 Neighboring gene acyl-CoA synthetase medium chain family member 5 pseudogene 1 Neighboring gene uncharacterized LOC105379461 Neighboring gene acyl-CoA synthetase medium chain family member 4 pseudogene Neighboring gene THUMP domain containing 1 Neighboring gene acyl-CoA synthetase medium chain family member 3 Neighboring gene RNA, U6 small nuclear 944, pseudogene Neighboring gene ERI1 exoribonuclease family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
NHGRI GWA Catalog
Genomewide association for schizophrenia in the CATIE study: results of stage 1.
NHGRI GWA Catalog

Pathways from BioSystems

  • Amino Acid conjugation, organism-specific biosystem (from REACTOME)
    Amino Acid conjugation, organism-specific biosystemXenobiotics that contain either a carboxylic group or an aromatic hydroxylamine group are possible substrates for amino acid conjugation. Xenobiotics with a carboxylic group conjugate with an amino g...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Butanoate metabolism, organism-specific biosystem (from KEGG)
    Butanoate metabolism, organism-specific biosystem
    Butanoate metabolism
  • Butanoate metabolism, conserved biosystem (from KEGG)
    Butanoate metabolism, conserved biosystem
    Butanoate metabolism
  • Conjugation of benzoate with glycine, organism-specific biosystem (from REACTOME)
    Conjugation of benzoate with glycine, organism-specific biosystemBenzoic acid, widely used as a food preservative, is converted to hippuric acid by activation and conjugation with glycine. This was one of the first detoxification pathways discovered, and was forme...
  • Conjugation of carboxylic acids, organism-specific biosystem (from REACTOME)
    Conjugation of carboxylic acids, organism-specific biosystemXenobiotics and endogenous compounds containing carboxylate groups can be activated with coenzyme A to produce acyl-CoA thioesters and then conjugated with the amino groups of glycine or glutamine to...
  • Conjugation of phenylacetate with glutamine, organism-specific biosystem (from REACTOME)
    Conjugation of phenylacetate with glutamine, organism-specific biosystemPhenylacetate metabolism is of clinical importance because its conjugation with glutamine to form phenylacetylglutamine, which can be excreted in the urine, provides an alternative pathway for nitrog...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Phase II conjugation, organism-specific biosystem (from REACTOME)
    Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
  • Valproic acid pathway, organism-specific biosystem (from WikiPathways)
    Valproic acid pathway, organism-specific biosystemValproic acid is a drug used for treatment and management of seizure disorders, mania and prophylactic treatment of migraine headache. In epileptics, valproic acid is used to control absence seizures...
  • gamma-linolenate biosynthesis, organism-specific biosystem (from BIOCYC)
    gamma-linolenate biosynthesis, organism-specific biosystemGeneral Background : CPD-8117 (GLA) is a polyunsaturated (18:3) ω-6 fatty acid (the 6 refers to the position of the first double bond from the methyl end of the fatty acid). It is synthesized ...
  • icosapentaenoate biosynthesis II (metazoa), organism-specific biosystem (from BIOCYC)
    icosapentaenoate biosynthesis II (metazoa), organism-specific biosystem
    icosapentaenoate biosynthesis II (metazoa)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acyl-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
butyrate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
benzoate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
butyrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
cholesterol homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
energy derivation by oxidation of organic compounds NAS
Non-traceable Author Statement
more info
PubMed 
fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid oxidation NAS
Non-traceable Author Statement
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular exosome HDA PubMed 
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
acyl-coenzyme A synthetase ACSM1, mitochondrial
Names
Butyrate CoA ligase
butyrate--CoA ligase 1
butyryl Coenzyme A synthetase 1
butyryl-coenzyme A synthetase 1
lipoate-activating enzyme
medium-chain acyl-CoA synthetase
middle-chain acyl-CoA synthetase 1
NP_001305819.1
NP_443188.2
XP_006721079.1
XP_006721080.1
XP_006721081.1
XP_011544031.1
XP_011544032.1
XP_011544033.1
XP_011544034.1
XP_016878403.1
XP_016878404.1
XP_024305916.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001318890.1NP_001305819.1  acyl-coenzyme A synthetase ACSM1, mitochondrial

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC141273, AK092574, AK314282, BC125177, BC125178, CN360958
    Consensus CDS
    CCDS10587.1
    UniProtKB/Swiss-Prot
    Q08AH1
    UniProtKB/TrEMBL
    B2RAP4
    Related
    ENSP00000428047.1, ENST00000520010.5
    Conserved Domains (1) summary
    cl17068
    Location:45574
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. NM_052956.3NP_443188.2  acyl-coenzyme A synthetase ACSM1, mitochondrial

    See identical proteins and their annotated locations for NP_443188.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB059429, AC141273, AK092574
    Consensus CDS
    CCDS10587.1
    UniProtKB/Swiss-Prot
    Q08AH1
    Related
    ENSP00000301956.3, ENST00000307493.8
    Conserved Domains (1) summary
    cl17068
    Location:45574
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. NR_134918.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple exons and contains an additional alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK092574, BC125177
    Related
    ENST00000519745.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    20623235..20697788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545730.3XP_011544032.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X4

    Conserved Domains (2) summary
    COG0365
    Location:39417
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45416
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. XM_006721017.3XP_006721080.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X2

    Conserved Domains (2) summary
    COG0365
    Location:39514
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45513
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. XM_006721016.3XP_006721079.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1

    Conserved Domains (2) summary
    COG0365
    Location:39541
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45540
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. XM_017022915.1XP_016878404.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X8

  5. XM_011545732.2XP_011544034.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6

    See identical proteins and their annotated locations for XP_011544034.1

    Conserved Domains (2) summary
    COG0365
    Location:3355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1354
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. XM_024450148.1XP_024305916.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X9

    Conserved Domains (1) summary
    cl17068
    Location:1320
    AFD_class_I; Adenylate forming domain, Class I superfamily
  7. XM_006721018.2XP_006721081.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6

    See identical proteins and their annotated locations for XP_006721081.1

    Conserved Domains (2) summary
    COG0365
    Location:3355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1354
    AFD_class_I; Adenylate forming domain, Class I superfamily
  8. XM_011545731.2XP_011544033.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X5

    Conserved Domains (2) summary
    COG0365
    Location:7376
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:5375
    AFD_class_I; Adenylate forming domain, Class I superfamily
  9. XM_017022914.2XP_016878403.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X7

  10. XM_011545729.3XP_011544031.1  acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X3

    Conserved Domains (2) summary
    pfam00501
    Location:81454
    AMP-binding; AMP-binding enzyme
    cl17068
    Location:45454
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_001751828.2 RNA Sequence

  2. XR_429672.3 RNA Sequence

  3. XR_001751827.2 RNA Sequence

  4. XR_950738.3 RNA Sequence

  5. XR_243258.3 RNA Sequence

  6. XR_950737.3 RNA Sequence

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