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Aliases for ACSBG1 Gene

Aliases for ACSBG1 Gene

  • Acyl-CoA Synthetase Bubblegum Family Member 1 2 3 4 5
  • Lipidosin 2 3 4
  • Very Long-Chain Acyl-CoA Synthetase 2 3
  • Bubblegum 2 3
  • BGM 3 4
  • LPD 3 4
  • Long-Chain-Fatty-Acid--CoA Ligase ACSBG1 3
  • EC 6.2.1.3 4
  • KIAA0631 4
  • GR-LACS 3
  • HsBGM 4
  • HBG1 4
  • HsBG 4
  • BG1 3
  • BG 3

External Ids for ACSBG1 Gene

Previous GeneCards Identifiers for ACSBG1 Gene

  • GC15M076247
  • GC15M078460
  • GC15M055220

Summaries for ACSBG1 Gene

Entrez Gene Summary for ACSBG1 Gene

  • 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]

GeneCards Summary for ACSBG1 Gene

ACSBG1 (Acyl-CoA Synthetase Bubblegum Family Member 1) is a Protein Coding gene. Diseases associated with ACSBG1 include Ovary Adenocarcinoma and Malignant Ovarian Surface Epithelial-Stromal Neoplasm. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include long-chain fatty acid-CoA ligase activity and very long-chain fatty acid-CoA ligase activity. An important paralog of this gene is ACSBG2.

UniProtKB/Swiss-Prot for ACSBG1 Gene

  • Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids.

Gene Wiki entry for ACSBG1 Gene

Additional gene information for ACSBG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSBG1 Gene

Genomics for ACSBG1 Gene

GeneHancer (GH) Regulatory Elements for ACSBG1 Gene

Promoters and enhancers for ACSBG1 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
GH15J078234 Promoter/Enhancer 0.8 EPDnew ENCODE 655.8 +10.8 10785 1.3 NRF1 ACSBG1 PIR40151 PIR56006 GC15M078021
GH15J078203 Enhancer 0.8 ENCODE dbSUPER 12.9 +40.2 40210 4.8 BCOR ZNF768 PKNOX1 ZMYM3 ZIC2 FOXA1 ZNF217 GATA3 POLR2A HDAC2 ACSBG1 CIB2 MORF4L1 LOC645752 PIR56006 GC15P078155 GC15M078021
GH15J078195 Enhancer 0.7 ENCODE 13.6 +49.8 49844 0.2 MEIS2 CTCF PKNOX1 RB1 ARID4B RAD21 CC2D1A GATA3 CTBP1 ZNF366 ACSBG1 CIB2 ENSG00000199633 SH2D7 TBC1D2B PIR56006 GC15P078155 GC15M078021
GH15J078315 Enhancer 0.9 Ensembl ENCODE 10.2 -70.8 -70797 2.2 BCOR CTCF RB1 NFRKB MAX ZNF140 TSC22D4 ZMYM3 ZIC2 BRCA1 IREB2 ENSG00000259562 WDR61 ENSG00000260988 CRABP1 ACSBG1 ENSG00000259322 HYKK CHRNA5 DNAJA4
GH15J078209 Enhancer 0.8 ENCODE dbSUPER 10.7 +35.5 35529 1.4 SMARCE1 ZNF687 RFX1 CEBPB BMI1 E2F1 ZNF217 GATA3 POLR2A ZFX PIR56006 ACSBG1 MORF4L1 GC15P078155 GC15M078021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSBG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSBG1 gene promoter:
  • FOXD1
  • IRF-7A
  • HNF-4alpha2
  • HNF-4alpha1
  • LyF-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Spz1
  • Zic1

Genomic Locations for ACSBG1 Gene

Genomic Locations for ACSBG1 Gene
chr15:78,167,468-78,245,688
(GRCh38/hg38)
Size:
78,221 bases
Orientation:
Minus strand
chr15:78,459,810-78,538,030
(GRCh37/hg19)
Size:
78,221 bases
Orientation:
Minus strand

Genomic View for ACSBG1 Gene

Genes around ACSBG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSBG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSBG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSBG1 Gene

Proteins for ACSBG1 Gene

  • Protein details for ACSBG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GR2-ACBG1_HUMAN
    Recommended name:
    Long-chain-fatty-acid--CoA ligase ACSBG1
    Protein Accession:
    Q96GR2
    Secondary Accessions:
    • B2RB61
    • O75126
    • Q76N27
    • Q9HC26

    Protein attributes for ACSBG1 Gene

    Size:
    724 amino acids
    Molecular mass:
    81290 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31606.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ACSBG1 Gene

Post-translational modifications for ACSBG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACSBG1 Gene

Domains & Families for ACSBG1 Gene

Gene Families for ACSBG1 Gene

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

Protein Domains for ACSBG1 Gene

Suggested Antigen Peptide Sequences for ACSBG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96GR2

UniProtKB/Swiss-Prot:

ACBG1_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.
genes like me logo Genes that share domains with ACSBG1: view

Function for ACSBG1 Gene

Molecular function for ACSBG1 Gene

UniProtKB/Swiss-Prot Function:
Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.

Enzyme Numbers (IUBMB) for ACSBG1 Gene

Phenotypes From GWAS Catalog for ACSBG1 Gene

Gene Ontology (GO) - Molecular Function for ACSBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IDA 10954726
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ACSBG1: view
genes like me logo Genes that share phenotypes with ACSBG1: view

Animal Models for ACSBG1 Gene

MGI Knock Outs for ACSBG1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ACSBG1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACSBG1 Gene

Localization for ACSBG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSBG1 Gene

Cytoplasm. Cytoplasmic vesicle. Microsome. Endoplasmic reticulum.

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 ACSBG1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACSBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 10954726
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0031410 cytoplasmic vesicle IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with ACSBG1: view

Pathways & Interactions for ACSBG1 Gene

genes like me logo Genes that share pathways with ACSBG1: view

Gene Ontology (GO) - Biological Process for ACSBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IDA 10954726
GO:0001676 long-chain fatty acid metabolic process IDA 10954726
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACSBG1: view

No data available for SIGNOR curated interactions for ACSBG1 Gene

Drugs & Compounds for ACSBG1 Gene

(7) Drugs for ACSBG1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Adenosine monophosphate Approved, Investigational Nutra 0
2-(6-HYDROXY-1,3-BENZOTHIAZOL-2-YL)-1,3-THIAZOL-4(5H)-ONE Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(32) Additional Compounds for ACSBG1 Gene - From: HMDB

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 ACSBG1: view

Transcripts for ACSBG1 Gene

Unigene Clusters for ACSBG1 Gene

Acyl-CoA synthetase bubblegum family member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSBG1 Gene

No ASD Table

Relevant External Links for ACSBG1 Gene

GeneLoc Exon Structure for
ACSBG1
ECgene alternative splicing isoforms for
ACSBG1

Expression for ACSBG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSBG1 Gene

mRNA differential expression in normal tissues according to GTEx for ACSBG1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.7), Brain - Caudate (basal ganglia) (x6.0), Brain - Putamen (basal ganglia) (x5.4), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for ACSBG1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (57.0) and Spinal cord (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACSBG1 Gene



Protein tissue co-expression partners for ACSBG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACSBG1 Gene:

ACSBG1

SOURCE GeneReport for Unigene cluster for ACSBG1 Gene:

Hs.655760

mRNA Expression by UniProt/SwissProt for ACSBG1 Gene:

Q96GR2-ACBG1_HUMAN
Tissue specificity: Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary.

Evidence on tissue expression from TISSUES for ACSBG1 Gene

  • Nervous system(4.9)
  • Skin(4.3)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with ACSBG1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSBG1 Gene

Orthologs for ACSBG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACSBG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSBG1 34 33
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACSBG1 34 33
  • 88.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACSBG1 34 33
  • 86.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsbg1 33
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Acsbg1 16 34 33
  • 84.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACSBG1 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACSBG1 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSBG1 34 33
  • 67.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSBG1 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100006023 33
  • 61.72 (n)
acsbg1 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bgm 34
  • 40 (a)
ManyToMany
CG4500 34
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-3 34
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAA2 34
  • 19 (a)
OneToMany
Species where no ortholog for ACSBG1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for ACSBG1 Gene

ENSEMBL:
Gene Tree for ACSBG1 (if available)
TreeFam:
Gene Tree for ACSBG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSBG1: view image

Paralogs for ACSBG1 Gene

Paralogs for ACSBG1 Gene

(1) SIMAP similar genes for ACSBG1 Gene using alignment to 8 proteins:

  • ACBG1_HUMAN
  • F5H4U6_HUMAN
  • H0YM34_HUMAN
  • H0YMC3_HUMAN
  • H0YMF5_HUMAN
  • H0YMH2_HUMAN
  • H0YMZ0_HUMAN
  • H0YNX0_HUMAN
genes like me logo Genes that share paralogs with ACSBG1: view

Variants for ACSBG1 Gene

Sequence variations from dbSNP and Humsavar for ACSBG1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000019271 -- 78,226,002(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000074240 -- 78,213,937(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000112502 -- 78,231,274(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000143014 -- 78,233,412(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000155725 -- 78,176,835(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSBG1 Gene

Variant ID Type Subtype PubMed ID
nsv1116464 OTHER inversion 24896259
nsv473640 CNV novel sequence insertion 20440878

Variation tolerance for ACSBG1 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSBG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSBG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSBG1 Gene

Disorders for ACSBG1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACSBG1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ovary adenocarcinoma
  • adenocarcinoma of the ovary
malignant ovarian surface epithelial-stromal neoplasm
  • malignant ovarian surface epithelial-stromal tumor
ovary epithelial cancer
  • epithelial tumor of ovary
ovarian cancer 1
  • ovarian cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ACSBG1

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 ACSBG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSBG1 Gene

Publications for ACSBG1 Gene

  1. The acyl-CoA synthetase "bubblegum" (lipidosin): further characterization and role in neuronal fatty acid beta-oxidation.. (PMID: 12975357) Pei Z … Watkins PA (The Journal of biological chemistry 2003) 3 4 22 58
  2. Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids. (PMID: 10954726) Steinberg SJ … Watkins PA (The Journal of biological chemistry 2000) 2 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality. (PMID: 20691247) Verweij KJ … Wray NR (Biological psychology 2010) 3 44 58

Products for ACSBG1 Gene

Sources for ACSBG1 Gene

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