• Gene id: 23205

Gene Summary

• Gene Symbol: ACSBG1   Gene   UCSC   Ensembl
• Aliases: BG, BG1, BGM, GR-LACS, LPD
• Gene name: acyl-CoA synthetase bubblegum family member 1
• Alternate names: long-chain-fatty-acid--CoA ligase ACSBG1, bubblegum, lipidosin, very long-chain acyl-CoA synthetase,
• Gene location: 15q25.1 (78234624: 78167467)     Exons: 19     NC_000015.10
• Gene summary(Entrez): 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]
• OMIM: 609613

Protein Summary

• Protein general information: Q96GR2  
  • Name: Long chain fatty acid CoA ligase ACSBG1 (EC 6.2.1.3) (Acyl CoA synthetase bubblegum family member 1) (hBG1) (hsBG) (hsBGM) (Lipidosin)
  • Length: 724  
  • Mass: 81290
  • Tissue specificity: Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary. {ECO
• Sequence:

  MPRNSGAGYGCPHGDPSMLDSRETPQESRQDMIVRTTQEKLKTSSLTDRQPLSKESLNHALELSVPEKVNNAQWD
  APEEALWTTRADGRVRLRIDPSCPQLPYTVHRMFYEALDKYGDLIALGFKRQDKWEHISYSQYYLLARRAAKGFL
  KLGLKQAHSVAILGFNSPEWFFSAVGTVFAGGIVTGIYTTSSPEACQYIAYDCCANVIMVDTQKQLEKILKIWKQ
  LPHLKAVVIYKEPPPNKMANVYTMEEFMELGNEVPEEALDAIIDTQQPNQCCVLVYTSGTTGNPKGVMLSQDNIT
  WTARYGSQAGDIRPAEVQQEVVVSYLPLSHIAAQIYDLWTGIQWGAQVCFAEPDALKGSLVNTLREVEPTSHMGV
  PRVWEKIMERIQEVAAQSGFIRRKMLLWAMSVTLEQNLTCPGSDLKPFTTRLADYLVLAKVRQALGFAKCQKNFY
  GAAPMMAETQHFFLGLNIRLYAGYGLSETSGPHFMSSPYNYRLYSSGKLVPGCRVKLVNQDAEGIGEICLWGRTI
  FMGYLNMEDKTCEAIDEEGWLHTGDAGRLDADGFLYITGRLKELIITAGGENVPPVPIEEAVKMELPIISNAMLI
  GDQRKFLSMLLTLKCTLDPDTSDQTDNLTEQAMEFCQRVGSRATTVSEIIEKKDEAVYQAIEEGIRRVNMNAAAR
  PYHIQKWAILERDFSISGGELGPTMKLKRLTVLEKYKGIIDSFYQEQKM

• Structural information:
  • Interpro: IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000258873
• Other Databases: GeneCards:  ACSBG1  Malacards:  ACSBG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004467	long-chain fatty acid-CoA ligase activity	IDA	molecular function
GO:0031957	very long-chain fatty acid-CoA ligase activity	IDA	molecular function
GO:0000038	very long-chain fatty acid metabolic process	IDA	biological process
GO:0042552	myelination	NAS	biological process
GO:0001676	long-chain fatty acid metabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042759	long-chain fatty acid biosynthetic process	IBA	biological process
GO:0016405	CoA-ligase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004467	long-chain fatty acid-CoA ligase activity	IBA	molecular function
GO:0001676	long-chain fatty acid metabolic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0004467	long-chain fatty acid-CoA ligase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0003996	acyl-CoA ligase activity	IEA	molecular function
GO:0102391	decanoate-CoA ligase activity	IEA	molecular function
GO:0004467	long-chain fatty acid-CoA ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa04920	Adipocytokine signaling pathway
hsa00071	Fatty acid degradation
hsa00061	Fatty acid biosynthesis

Diseases

Associated diseases	References
Adrenoleukodystrophy	PMID:15800013
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq