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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 11112418, 12719378, 15464426, 15800013, 16371355, 19167491, 26893370
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy LHGDN 15800013
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 28877615
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 17351108
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 14671672
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14671672
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27857161 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23936004
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 29855350
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 17351108, 21715317
★☆☆☆☆
Found in Text Mining only