Gene Gene information from NCBI Gene database.
Entrez ID 23205
Gene name Acyl-CoA synthetase bubblegum family member 1
Gene symbol ACSBG1
Synonyms (NCBI Gene)
BGBG1BGMGR-LACSLPD
Chromosome 15
Chromosome location 15q25.1
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]
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT724566 hsa-miR-4457 HITS-CLIP 19536157
MIRT724565 hsa-miR-125b-2-3p HITS-CLIP 19536157
MIRT616864 hsa-miR-1290 HITS-CLIP 19536157
MIRT724564 hsa-miR-4450 HITS-CLIP 19536157
MIRT616863 hsa-miR-4766-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IDA 10954726
GO:0000166 Function Nucleotide binding IEA
GO:0001676 Process Long-chain fatty acid metabolic process IDA 10954726, 24269233
GO:0004467 Function Long-chain fatty acid-CoA ligase activity IBA
GO:0004467 Function Long-chain fatty acid-CoA ligase activity IDA 10954726, 24269233
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614362 29567 ENSG00000103740
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GR2
Protein name Long-chain-fatty-acid--CoA ligase ACSBG1 (EC 6.2.1.3) (Acyl-CoA synthetase bubblegum family member 1) (hBG1) (hsBG) (hsBGM) (Lipidosin)
Protein function Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:10954726, PubMed:12975357, PubMed:2426923
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 109 573 AMP-binding enzyme Family
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary. {ECO:0000269|PubMed:10954726, ECO:0000269|PubMed:12975357, ECO:0000269|PubMed:24269233}.
Sequence
Sequence length 724
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs74894991 RCV005906018
Ovarian serous cystadenocarcinoma Benign rs74894991 RCV005906020
Sarcoma Benign rs74894991 RCV005906019
Uterine corpus endometrial carcinoma Benign rs74894991 RCV005906021
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 27857161
Diabetic Retinopathy Associate 10688808
Gallstones Associate 24083370
Hyperimmunoglobulin G1(A1) Syndrome Associate 1702266
Leukemia Lymphocytic Chronic B Cell Associate 7437515
Lung Neoplasms Associate 34970420
Mucopolysaccharidosis VII Associate 1702266
Multiple Myeloma Associate 7437515
Neoplasm Metastasis Associate 27986920
Neoplasms Associate 27986920