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ACSBG1 acyl-CoA synthetase bubblegum family member 1 [ Homo sapiens (human) ]

Gene ID: 23205, updated on 29-Jan-2023

Summary

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Official Symbol
ACSBG1provided by HGNC
Official Full Name
acyl-CoA synthetase bubblegum family member 1provided by HGNC
Primary source
HGNC:HGNC:29567
See related
Ensembl:ENSG00000103740 MIM:614362; AllianceGenome:HGNC:29567
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BG; BG1; BGM; LPD; GR-LACS
Summary
The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 8.4), adrenal (RPKM 6.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ACSBG1 in Genome Data Viewer
Location:
15q25.1
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78167468..78234565, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76030054..76097108, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78459810..78526907, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene calcium and integrin binding family member 2 Neighboring gene uncharacterized LOC124903534 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Neighboring gene DNAJA4 divergent transcript Neighboring gene uncharacterized LOC105370910 Neighboring gene Sharpr-MPRA regulatory region 12554 Neighboring gene DnaJ heat shock protein family (Hsp40) member A4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia. Yu Z, et al. Mol Neurobiol, 2023 Feb. PMID 36414910
  2. The acyl-CoA synthetase "bubblegum" (lipidosin): further characterization and role in neuronal fatty acid beta-oxidation.. Pei Z, et al. J Biol Chem, 2003 Nov 21. PMID 12975357
  3. Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues. Moriya-Sato A, et al. Biochem Biophys Res Commun, 2000 Dec 9. PMID 11112418
  4. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Asheuer M, et al. Hum Mol Genet, 2005 May 15. PMID 15800013
  5. Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids. Steinberg SJ, et al. J Biol Chem, 2000 Nov 10. PMID 10954726

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia.
    Title: Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
  4. expression tends to be correlated with the severity of X-linked adrenoleukodystrophy
    Title: Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30320, KIAA0631, MGC14352

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables CoA-ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables very long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables very long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in myelination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in ovarian follicle atresia IEA
Inferred from Electronic Annotation
more info
  
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
  
involved_in very long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
long-chain-fatty-acid--CoA ligase ACSBG1
Names
bubblegum
lipidosin
very long-chain acyl-CoA synthetase
NP_001186306.1
NP_055977.3
XP_011519692.1
XP_011519693.2
XP_016877514.1
XP_047288229.1

NCBI Reference Sequences (RefSeq)

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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_001199377.2 → NP_001186306.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC090260, AK295269, BC009289, DC401742
    UniProtKB/Swiss-Prot
    Q96GR2
    UniProtKB/TrEMBL
    B7Z2Y6
    Conserved Domains (2) summary
    cd05933
    Location:125 → 715
    ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
    COG1022
    Location:103 → 718
    FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]

  2. NM_015162.5 → NP_055977.3  long-chain-fatty-acid--CoA ligase ACSBG1 isoform 1

    See identical proteins and their annotated locations for NP_055977.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090260, AK054882, BC009289, DC401742
    Consensus CDS
    CCDS10298.1
    UniProtKB/Swiss-Prot
    Q96GR2, Q9HC26
    UniProtKB/TrEMBL
    B3KNS7
    Related
    ENSP00000258873.4, ENST00000258873.9
    Conserved Domains (2) summary
    cd05933
    Location:125 → 719
    ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
    COG1022
    Location:103 → 722
    FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    78167468..78234565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022025.3 → XP_016877514.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X1

  2. XM_011521390.4 → XP_011519692.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X3

    Conserved Domains (2) summary
    cd05933
    Location:103 → 697
    ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
    COG1022
    Location:81 → 700
    FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]

  3. XM_047432273.1 → XP_047288229.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X2

  4. XM_011521391.3 → XP_011519693.2  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    76030054..76097108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96GR2.2 GenPept UniProtKB/Swiss-Prot:Q96GR2

Gene LinkOut

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