Human Gene ACSBG1 (ENST00000258873.9) from GENCODE V44
  Description: Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. (from RefSeq NM_015162)
RefSeq Summary (NM_015162): 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].
Gencode Transcript: ENST00000258873.9
Gencode Gene: ENSG00000103740.10
Transcript (Including UTRs)
   Position: hg38 chr15:78,167,468-78,234,565 Size: 67,098 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr15:78,171,444-78,234,501 Size: 63,058 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,167,468-78,234,565)mRNA (may differ from genome)Protein (724 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACBG1_HUMAN
DESCRIPTION: RecName: Full=Long-chain-fatty-acid--CoA ligase ACSBG1; EC=6.2.1.3; AltName: Full=Acyl-CoA synthetase bubblegum family member 1; Short=hBG1; Short=hsBG; Short=hsBGM; AltName: Full=Lipidosin;
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.
CATALYTIC ACTIVITY: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle (By similarity). Microsome (By similarity). Endoplasmic reticulum (By similarity).
TISSUE SPECIFICITY: Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary.
SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily.
SEQUENCE CAUTION: Sequence=BAA31606.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACSBG1
Diseases sorted by gene-association score: ovary adenocarcinoma (2), malignant ovarian surface epithelial-stromal neoplasm (1), ovary epithelial cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.60 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 186.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.2064-0.316 Picture PostScript Text
3' UTR -1075.023976-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020845 - AMP-binding_CS
IPR000873 - AMP-dep_Synth/Lig

Pfam Domains:
PF00501 - AMP-binding enzyme

ModBase Predicted Comparative 3D Structure on Q96GR2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004467 long-chain fatty acid-CoA ligase activity
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0031957 very long-chain fatty acid-CoA ligase activity
GO:0102391 decanoate--CoA ligase activity

Biological Process:
GO:0000038 very long-chain fatty acid metabolic process
GO:0001676 long-chain fatty acid metabolic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0008152 metabolic process
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0042552 myelination
GO:0051384 response to glucocorticoid

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0031410 cytoplasmic vesicle
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  CU692431 - Synthetic construct Homo sapiens gateway clone IMAGE:100023348 3' read IDH3A mRNA.
AB014531 - Homo sapiens KIAA0631 mRNA for KIAA0631 protein.
BC040252 - Homo sapiens acyl-CoA synthetase bubblegum family member 1, mRNA (cDNA clone IMAGE:4775985).
BC009289 - Homo sapiens acyl-CoA synthetase bubblegum family member 1, mRNA (cDNA clone MGC:14352 IMAGE:4298937), complete cds.
AF070624 - Homo sapiens clone 24482 mRNA sequence.
AK294202 - Homo sapiens cDNA FLJ50128 complete cds, highly similar to Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), mRNA.
AK054882 - Homo sapiens cDNA FLJ30320 fis, clone BRACE2006167, highly similar to Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), mRNA.
JD433921 - Sequence 414945 from Patent EP1572962.
JD200004 - Sequence 181028 from Patent EP1572962.
JD565561 - Sequence 546585 from Patent EP1572962.
JD562908 - Sequence 543932 from Patent EP1572962.
AK295269 - Homo sapiens cDNA FLJ59520 complete cds, highly similar to Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), mRNA.
JD526992 - Sequence 508016 from Patent EP1572962.
JD134137 - Sequence 115161 from Patent EP1572962.
JD254851 - Sequence 235875 from Patent EP1572962.
JD254850 - Sequence 235874 from Patent EP1572962.
AF179481 - Homo sapiens very long-chain acyl-CoA synthetase (BG1) mRNA, complete cds.
AK314508 - Homo sapiens cDNA, FLJ95326, highly similar to Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), mRNA.
EU176436 - Synthetic construct Homo sapiens clone IMAGE:100006512; FLH194234.01X; RZPDo839G1179D acyl-CoA synthetase bubblegum family member 1 (ACSBG1) gene, encodes complete protein.
AB383926 - Synthetic construct DNA, clone: pF1KSDA0631, Homo sapiens ACSBG1 gene for acyl-CoA synthetase bubblegum family member 1, complete cds, without stop codon, in Flexi system.
DQ896428 - Synthetic construct Homo sapiens clone IMAGE:100010888; FLH194230.01L; RZPDo839G1169D acyl-CoA synthetase bubblegum family member 1 (ACSBG1) gene, encodes complete protein.
KJ898460 - Synthetic construct Homo sapiens clone ccsbBroadEn_07854 ACSBG1 gene, encodes complete protein.
AK299597 - Homo sapiens cDNA FLJ50846 complete cds, highly similar to Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), mRNA.
CU679287 - Synthetic construct Homo sapiens gateway clone IMAGE:100020442 5' read ACSBG1 mRNA.
JD319712 - Sequence 300736 from Patent EP1572962.
JD133726 - Sequence 114750 from Patent EP1572962.
JD093007 - Sequence 74031 from Patent EP1572962.
JD123187 - Sequence 104211 from Patent EP1572962.
JD059362 - Sequence 40386 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
FAO-PWY - fatty acid β-oxidation
PWY-5143 - long-chain fatty acid activation
PWY-5972 - stearate biosynthesis
PWY-6000 - γ-linolenate biosynthesis
PWY-7592 - arachidonate biosynthesis III (6-desaturase, mammals)
PWY-8181 - 2-methyl-branched fatty acid β-oxidation
PWY66-387 - fatty acid α-oxidation
PWY66-388 - fatty acid α-oxidation III
PWY66-391 - fatty acid β-oxidation (peroxisome)

BioCarta from NCI Cancer Genome Anatomy Project
h_chrebpPathway - ChREBP regulation by carbohydrates and cAMP

Reactome (by CSHL, EBI, and GO)

Protein Q96GR2 (Reactome details) participates in the following event(s):

R-HSA-5695957 ACSBG1,2 ligates CoA-SH to VLCFA, forming VLCFA-CoA
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
R-HSA-75105 Fatty acyl-CoA biosynthesis
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACBG1_HUMAN, B2RB61, BGM, ENST00000258873.1, ENST00000258873.2, ENST00000258873.3, ENST00000258873.4, ENST00000258873.5, ENST00000258873.6, ENST00000258873.7, ENST00000258873.8, KIAA0631, LPD, NM_015162, O75126, Q76N27, Q96GR2, Q9HC26, uc002bdh.1, uc002bdh.2, uc002bdh.3, uc002bdh.4, uc002bdh.5
UCSC ID: ENST00000258873.9
RefSeq Accession: NM_015162
Protein: Q96GR2 (aka ACBG1_HUMAN)
CCDS: CCDS10298.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.