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

    Gene ID: 23205, updated on 27-Nov-2024

    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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78167468..78234565, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76030054..76108241, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 9910 Neighboring gene calcium and integrin binding family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6705 Neighboring gene uncharacterized LOC124903534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6706 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78500283-78500794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9913 Neighboring gene DNAJA4 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6709 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. Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues. Moriya-Sato A, et al. Biochem Biophys Res Commun, 2000 Dec 9. PMID 11112418
    3. 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
    4. 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
    5. 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

    See all (23) citations in PubMed

    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)

    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 long-chain fatty acid-CoA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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 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
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    XP_054233533.1
    XP_054233534.1
    XP_054233535.1
    XP_054233536.1
    XP_054233537.1

    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/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
      B2RB61, O75126, Q76N27, 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: GCF_000001405.40-RS_2024_08

    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

      UniProtKB/TrEMBL
      B3KNS7

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

      UniProtKB/TrEMBL
      B3KNS7
      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

      UniProtKB/TrEMBL
      B3KNS7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      76030054..76108241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377558.1 → XP_054233533.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X1

    2. XM_054377560.1 → XP_054233535.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X5

    3. XM_054377561.1 → XP_054233536.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X3

    4. XM_054377559.1 → XP_054233534.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X2

    5. XM_054377562.1 → XP_054233537.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GR2.2 GenPept UniProtKB/Swiss-Prot:Q96GR2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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