ACSBG1 (acyl-CoA synthetase bubblegum family member 1) - Rat Genome Database

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Gene: ACSBG1 (acyl-CoA synthetase bubblegum family member 1) Homo sapiens
Analyze
Symbol: ACSBG1
Name: acyl-CoA synthetase bubblegum family member 1
RGD ID: 733957
HGNC Page HGNC:29567
Description: Enables long-chain fatty acid-CoA ligase activity and very long-chain fatty acid-CoA ligase activity. Involved in long-chain fatty acid metabolic process and very long-chain fatty acid metabolic process. Located in endoplasmic reticulum and plasma membrane. Biomarker of adrenoleukodystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BG; BG1; BGM; bubblegum; FLJ30320; GR-LACS; hBG1; hsBG; hsBGM; KIAA0631; lipidosin; lipodisin; long-chain-fatty-acid--CoA ligase ACSBG1; LPD; MGC14352; ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase; very long-chain acyl-CoA synthetase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,167,468 - 78,234,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,167,468 - 78,245,688 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,459,810 - 78,526,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,250,242 - 76,313,954 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,250,243 - 76,313,954NCBI
Celera1555,399,717 - 55,463,412 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,220,752 - 55,284,725 (-)NCBIHuRef
CHM1_11578,581,093 - 78,645,049 (-)NCBICHM1_1
T2T-CHM13v2.01576,030,054 - 76,108,241 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Asheuer M, etal., Hum Mol Genet. 2005 May 15;14(10):1293-303. Epub 2005 Mar 30.
2. DNA methylation analysis in malignant pheochromocytoma and paraganglioma. Oishi T, etal., J Clin Transl Endocrinol. 2016 Dec 23;7:12-20. doi: 10.1016/j.jcte.2016.12.004. eCollection 2017 Mar.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Expression of an acyl-CoA synthetase, lipidosin, in astrocytes of the murine brain and its up-regulation during remyelination following cuprizone-induced demyelination. Song SY, etal., J Neurosci Res. 2007 Dec;85(16):3586-97. doi: 10.1002/jnr.21456.
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9734811   PMID:10954726   PMID:11112418   PMID:12477932   PMID:12975357   PMID:14516277   PMID:14702039   PMID:15464426   PMID:16371355   PMID:19240061  
PMID:20379614   PMID:20691247   PMID:21832049   PMID:21873635   PMID:21900206   PMID:24269233   PMID:31586073   PMID:33961781   PMID:36414910  


Genomics

Comparative Map Data
ACSBG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,167,468 - 78,234,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,167,468 - 78,245,688 (-)EnsemblGRCh38hg38GRCh38
GRCh371578,459,810 - 78,526,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,250,242 - 76,313,954 (-)NCBINCBI36Build 36hg18NCBI36
Build 341576,250,243 - 76,313,954NCBI
Celera1555,399,717 - 55,463,412 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,220,752 - 55,284,725 (-)NCBIHuRef
CHM1_11578,581,093 - 78,645,049 (-)NCBICHM1_1
T2T-CHM13v2.01576,030,054 - 76,108,241 (-)NCBIT2T-CHM13v2.0
Acsbg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,512,163 - 54,569,169 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl954,512,161 - 54,569,154 (-)EnsemblGRCm39 Ensembl
GRCm38954,604,886 - 54,661,885 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl954,604,877 - 54,661,870 (-)EnsemblGRCm38mm10GRCm38
MGSCv37954,452,804 - 54,509,692 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36954,403,134 - 54,460,022 (-)NCBIMGSCv36mm8
Celera951,848,294 - 51,906,177 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.7NCBI
Acsbg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8863,887,433 - 63,943,486 (-)NCBIGRCr8
mRatBN7.2854,991,294 - 55,047,276 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl854,991,296 - 55,047,391 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx860,524,901 - 60,580,652 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0858,803,885 - 58,859,634 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0856,668,123 - 56,723,882 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0859,184,111 - 59,240,133 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl859,184,113 - 59,239,954 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0857,764,973 - 57,820,859 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4858,156,231 - 58,212,485 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1858,175,286 - 58,231,539 (-)NCBI
Celera854,479,867 - 54,535,554 (-)NCBICelera
Cytogenetic Map8q24NCBI
Acsbg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955450701,517 - 745,126 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955450703,874 - 744,782 (-)NCBIChiLan1.0ChiLan1.0
ACSBG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21667,383,181 - 67,450,157 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11571,550,363 - 71,615,512 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01557,098,752 - 57,164,119 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11576,064,937 - 76,128,835 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1576,064,937 - 76,128,835 (-)Ensemblpanpan1.1panPan2
ACSBG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1358,319,222 - 58,367,087 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl358,319,376 - 58,366,854 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha361,010,594 - 61,058,477 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0358,787,092 - 58,834,985 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl358,787,098 - 58,835,240 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1358,283,566 - 58,331,437 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0358,491,354 - 58,539,229 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,840,625 - 58,888,510 (-)NCBIUU_Cfam_GSD_1.0
Acsbg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640118,919,410 - 118,974,658 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647136,767,652 - 36,822,722 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647136,767,656 - 36,822,677 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSBG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl747,705,121 - 47,762,538 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1747,705,091 - 47,760,797 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2753,259,397 - 53,311,982 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACSBG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1265,117,740 - 5,183,164 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl265,117,818 - 5,185,418 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048136,620,613 - 136,686,848 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acsbg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248942,617,711 - 2,661,174 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248942,618,000 - 2,661,174 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACSBG1
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 copy number gain See cases [RCV000050915] Chr15:77640317..78459174 [GRCh38]
Chr15:77932659..78751516 [GRCh37]
Chr15:75719714..76538571 [NCBI36]
Chr15:15q24.3-25.1
uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
NM_001199377.1(ACSBG1):c.619G>A (p.Asp207Asn) single nucleotide variant Malignant melanoma [RCV000070902] Chr15:78193538 [GRCh38]
Chr15:78485880 [GRCh37]
Chr15:76272935 [NCBI36]
Chr15:15q25.1
not provided
NM_001199377.1(ACSBG1):c.131+9338C>A single nucleotide variant Lung cancer [RCV000099672] Chr15:78225033 [GRCh38]
Chr15:78517375 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1
pathogenic|uncertain significance
GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3 copy number gain See cases [RCV000139779] Chr15:78198708..78912913 [GRCh38]
Chr15:78491050..79205255 [GRCh37]
Chr15:76278105..76992310 [NCBI36]
Chr15:15q25.1
likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_015162.5(ACSBG1):c.635C>T (p.Thr212Met) single nucleotide variant Inborn genetic diseases [RCV003271942] Chr15:78193534 [GRCh38]
Chr15:78485876 [GRCh37]
Chr15:15q25.1
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3 copy number gain not provided [RCV000683711] Chr15:78193071..78767884 [GRCh37]
Chr15:15q24.3-25.1
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_015162.5(ACSBG1):c.2024G>A (p.Arg675Gln) single nucleotide variant Inborn genetic diseases [RCV003244626] Chr15:78173658 [GRCh38]
Chr15:78466000 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1624G>A (p.Glu542Lys) single nucleotide variant not provided [RCV000880665] Chr15:78178692 [GRCh38]
Chr15:78471034 [GRCh37]
Chr15:15q25.1
benign
NM_015162.5(ACSBG1):c.2013C>T (p.Asn671=) single nucleotide variant not provided [RCV000967374] Chr15:78173669 [GRCh38]
Chr15:78466011 [GRCh37]
Chr15:15q25.1
benign
NM_015162.5(ACSBG1):c.1258C>T (p.Leu420=) single nucleotide variant not provided [RCV000921612] Chr15:78179776 [GRCh38]
Chr15:78472118 [GRCh37]
Chr15:15q25.1
likely benign
NM_015162.5(ACSBG1):c.2076G>A (p.Ser692=) single nucleotide variant not provided [RCV000890918] Chr15:78173606 [GRCh38]
Chr15:78465948 [GRCh37]
Chr15:15q25.1
benign
NM_005530.3(IDH3A):c.*110A>G single nucleotide variant not provided [RCV001614895] Chr15:78169115 [GRCh38]
Chr15:78461457 [GRCh37]
Chr15:15q25.1
benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_005530.3(IDH3A):c.1079G>A (p.Arg360His) single nucleotide variant not provided [RCV001344775] Chr15:78168983 [GRCh38]
Chr15:78461325 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1078C>T (p.Arg360Cys) single nucleotide variant not provided [RCV001486138] Chr15:78168982 [GRCh38]
Chr15:78461324 [GRCh37]
Chr15:15q25.1
likely benign
NM_005530.3(IDH3A):c.1032T>C (p.Asp344=) single nucleotide variant not provided [RCV001515975] Chr15:78168936 [GRCh38]
Chr15:78461278 [GRCh37]
Chr15:15q25.1
benign
NM_005530.3(IDH3A):c.1047A>G (p.Ala349=) single nucleotide variant not provided [RCV001491235] Chr15:78168951 [GRCh38]
Chr15:78461293 [GRCh37]
Chr15:15q25.1
likely benign
NM_005530.3(IDH3A):c.1026A>G (p.Thr342=) single nucleotide variant not provided [RCV001515120] Chr15:78168930 [GRCh38]
Chr15:78461272 [GRCh37]
Chr15:15q25.1
benign
NM_005530.3(IDH3A):c.1082G>A (p.Arg361Gln) single nucleotide variant not provided [RCV002005941] Chr15:78168986 [GRCh38]
Chr15:78461328 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1081C>T (p.Arg361Ter) single nucleotide variant not provided [RCV001944791] Chr15:78168985 [GRCh38]
Chr15:78461327 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1048A>G (p.Lys350Glu) single nucleotide variant not provided [RCV001980590] Chr15:78168952 [GRCh38]
Chr15:78461294 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q25.1(chr15:78488482-78757311)x3 copy number gain not provided [RCV002474985] Chr15:78488482..78757311 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.862A>G (p.Asn288Asp) single nucleotide variant Inborn genetic diseases [RCV002972732] Chr15:78182498 [GRCh38]
Chr15:78474840 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1209G>T (p.Trp403Cys) single nucleotide variant Inborn genetic diseases [RCV002818342] Chr15:78180799 [GRCh38]
Chr15:78473141 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1657C>T (p.Arg553Cys) single nucleotide variant Inborn genetic diseases [RCV002794066] Chr15:78178659 [GRCh38]
Chr15:78471001 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.7C>T (p.Arg3Cys) single nucleotide variant Inborn genetic diseases [RCV002689976] Chr15:78234495 [GRCh38]
Chr15:78526837 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1355C>T (p.Ala452Val) single nucleotide variant Inborn genetic diseases [RCV002817846] Chr15:78179679 [GRCh38]
Chr15:78472021 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_015162.5(ACSBG1):c.239C>T (p.Ala80Val) single nucleotide variant Inborn genetic diseases [RCV002707846] Chr15:78194720 [GRCh38]
Chr15:78487062 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.248C>A (p.Thr83Lys) single nucleotide variant Inborn genetic diseases [RCV002737433] Chr15:78194711 [GRCh38]
Chr15:78487053 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.853A>C (p.Thr285Pro) single nucleotide variant Inborn genetic diseases [RCV002924781] Chr15:78182507 [GRCh38]
Chr15:78474849 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1538A>C (p.Glu513Ala) single nucleotide variant Inborn genetic diseases [RCV002758366] Chr15:78178778 [GRCh38]
Chr15:78471120 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1094G>A (p.Arg365Gln) single nucleotide variant Inborn genetic diseases [RCV002888735] Chr15:78180914 [GRCh38]
Chr15:78473256 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.179C>G (p.Ala60Gly) single nucleotide variant Inborn genetic diseases [RCV002854671] Chr15:78208055 [GRCh38]
Chr15:78500397 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.377G>T (p.Arg126Leu) single nucleotide variant Inborn genetic diseases [RCV002802334] Chr15:78194582 [GRCh38]
Chr15:78486924 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.35C>T (p.Pro12Leu) single nucleotide variant Inborn genetic diseases [RCV002665661] Chr15:78234467 [GRCh38]
Chr15:78526809 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.911G>A (p.Arg304Gln) single nucleotide variant Inborn genetic diseases [RCV002665297] Chr15:78182129 [GRCh38]
Chr15:78474471 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1018-5C>T single nucleotide variant not provided [RCV002852930] Chr15:78168917 [GRCh38]
Chr15:78461259 [GRCh37]
Chr15:15q25.1
likely benign
NM_015162.5(ACSBG1):c.1898T>C (p.Met633Thr) single nucleotide variant Inborn genetic diseases [RCV002747423] Chr15:78173784 [GRCh38]
Chr15:78466126 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.2077G>A (p.Gly693Ser) single nucleotide variant Inborn genetic diseases [RCV002808156] Chr15:78173605 [GRCh38]
Chr15:78465947 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1044T>C (p.Asn348=) single nucleotide variant not provided [RCV003088105] Chr15:78168948 [GRCh38]
Chr15:78461290 [GRCh37]
Chr15:15q25.1
likely benign
NM_015162.5(ACSBG1):c.106A>G (p.Thr36Ala) single nucleotide variant Inborn genetic diseases [RCV002836082] Chr15:78234396 [GRCh38]
Chr15:78526738 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.73C>G (p.Pro25Ala) single nucleotide variant Inborn genetic diseases [RCV002897883] Chr15:78234429 [GRCh38]
Chr15:78526771 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_005530.3(IDH3A):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV002938773] Chr15:78168950 [GRCh38]
Chr15:78461292 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.472C>A (p.His158Asn) single nucleotide variant Inborn genetic diseases [RCV002680201] Chr15:78194002 [GRCh38]
Chr15:78486344 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1349A>G (p.Tyr450Cys) single nucleotide variant Inborn genetic diseases [RCV002724267] Chr15:78179685 [GRCh38]
Chr15:78472027 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
NM_015162.5(ACSBG1):c.1504G>A (p.Gly502Ser) single nucleotide variant Inborn genetic diseases [RCV003189363] Chr15:78178812 [GRCh38]
Chr15:78471154 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.1490G>A (p.Gly497Asp) single nucleotide variant Inborn genetic diseases [RCV003206073] Chr15:78178826 [GRCh38]
Chr15:78471168 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.788C>A (p.Ala263Asp) single nucleotide variant Inborn genetic diseases [RCV003286590] Chr15:78182572 [GRCh38]
Chr15:78474914 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3
pathogenic
NM_015162.5(ACSBG1):c.1709T>A (p.Ile570Asn) single nucleotide variant Inborn genetic diseases [RCV003357182] Chr15:78174518 [GRCh38]
Chr15:78466860 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.40G>A (p.Gly14Arg) single nucleotide variant Inborn genetic diseases [RCV003343035] Chr15:78234462 [GRCh38]
Chr15:78526804 [GRCh37]
Chr15:15q25.1
likely benign
NM_015162.5(ACSBG1):c.911G>C (p.Arg304Pro) single nucleotide variant Inborn genetic diseases [RCV003366962] Chr15:78182129 [GRCh38]
Chr15:78474471 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_015162.5(ACSBG1):c.751G>A (p.Glu251Lys) single nucleotide variant Inborn genetic diseases [RCV003383070] Chr15:78182609 [GRCh38]
Chr15:78474951 [GRCh37]
Chr15:15q25.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6465
Count of miRNA genes:1352
Interacting mature miRNAs:1797
Transcripts:ENST00000258873, ENST00000541759, ENST00000557935, ENST00000558130, ENST00000558301, ENST00000558728, ENST00000558793, ENST00000558828, ENST00000559114, ENST00000559241, ENST00000559707, ENST00000559713, ENST00000560124, ENST00000560183, ENST00000560817
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH102246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,464,072 - 78,464,201UniSTSGRCh37
Build 361576,251,127 - 76,251,256RGDNCBI36
Celera1555,400,602 - 55,400,731RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1555,221,637 - 55,221,766UniSTS
GeneMap99-GB4 RH Map15270.69UniSTS
SHGC-85050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,475,295 - 78,475,422UniSTSGRCh37
Build 361576,262,350 - 76,262,477RGDNCBI36
Celera1555,411,822 - 55,411,949RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1555,232,853 - 55,232,980UniSTS
TNG Radiation Hybrid Map1530044.0UniSTS
SHGC-9319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,489,496 - 78,489,614UniSTSGRCh37
Build 361576,276,551 - 76,276,669RGDNCBI36
Celera1555,426,023 - 55,426,141RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1555,247,202 - 55,247,320UniSTS
SHGC-58142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,521,497 - 78,521,837UniSTSGRCh37
Build 361576,308,552 - 76,308,892RGDNCBI36
Celera1555,458,010 - 55,458,350RGD
Cytogenetic Map15q23-q24UniSTS
HuRef1555,279,172 - 55,279,512UniSTS
TNG Radiation Hybrid Map1530060.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 8 5 629 1870 2 11 278
Low 1408 295 624 68 433 25 1210 579 1326 70 880 576 44 57 706
Below cutoff 1003 2679 1009 484 1472 369 2492 1600 531 308 526 997 126 1146 1788 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF179481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB881625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC939034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000258873   ⟹   ENSP00000258873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,167,468 - 78,234,565 (-)Ensembl
RefSeq Acc Id: ENST00000557935   ⟹   ENSP00000453585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,182,705 - 78,234,602 (-)Ensembl
RefSeq Acc Id: ENST00000558130   ⟹   ENSP00000453800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,193,612 - 78,234,525 (-)Ensembl
RefSeq Acc Id: ENST00000558301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,178,808 - 78,181,083 (-)Ensembl
RefSeq Acc Id: ENST00000558728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,179,738 - 78,182,886 (-)Ensembl
RefSeq Acc Id: ENST00000558793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,208,055 - 78,245,688 (-)Ensembl
RefSeq Acc Id: ENST00000558828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,194,648 - 78,245,688 (-)Ensembl
RefSeq Acc Id: ENST00000559114   ⟹   ENSP00000454188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,182,712 - 78,207,785 (-)Ensembl
RefSeq Acc Id: ENST00000559241   ⟹   ENSP00000453547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,182,742 - 78,213,499 (-)Ensembl
RefSeq Acc Id: ENST00000559707   ⟹   ENSP00000453447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,178,963 - 78,234,574 (-)Ensembl
RefSeq Acc Id: ENST00000559713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,213,523 - 78,234,625 (-)Ensembl
RefSeq Acc Id: ENST00000560124   ⟹   ENSP00000453605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,170,854 - 78,234,525 (-)Ensembl
RefSeq Acc Id: ENST00000560183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,173,593 - 78,174,812 (-)Ensembl
RefSeq Acc Id: ENST00000560817   ⟹   ENSP00000453451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,170,914 - 78,245,688 (-)Ensembl
RefSeq Acc Id: NM_001199377   ⟹   NP_001186306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,234,565 (-)NCBI
GRCh371578,463,187 - 78,527,049 (-)ENTREZGENE
HuRef1555,220,752 - 55,284,725 (-)ENTREZGENE
CHM1_11578,581,093 - 78,645,049 (-)NCBI
T2T-CHM13v2.01576,030,054 - 76,097,108 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015162   ⟹   NP_055977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,234,565 (-)NCBI
GRCh371578,463,187 - 78,527,049 (-)ENTREZGENE
Build 361576,250,242 - 76,313,954 (-)NCBI Archive
Celera1555,399,717 - 55,463,412 (-)RGD
HuRef1555,220,752 - 55,284,725 (-)ENTREZGENE
CHM1_11578,581,093 - 78,645,049 (-)NCBI
T2T-CHM13v2.01576,030,054 - 76,097,108 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521390   ⟹   XP_011519692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,226,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521391   ⟹   XP_011519693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,207,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022025   ⟹   XP_016877514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,234,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432273   ⟹   XP_047288229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,167,468 - 78,226,471 (-)NCBI
RefSeq Acc Id: XM_054377558   ⟹   XP_054233533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,030,054 - 76,108,241 (-)NCBI
RefSeq Acc Id: XM_054377559   ⟹   XP_054233534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,030,054 - 76,088,979 (-)NCBI
RefSeq Acc Id: XM_054377560   ⟹   XP_054233535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,030,054 - 76,108,241 (-)NCBI
RefSeq Acc Id: XM_054377561   ⟹   XP_054233536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,030,054 - 76,089,113 (-)NCBI
RefSeq Acc Id: XM_054377562   ⟹   XP_054233537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,030,054 - 76,070,391 (-)NCBI
RefSeq Acc Id: NP_055977   ⟸   NM_015162
- Peptide Label: isoform 1
- UniProtKB: Q76N27 (UniProtKB/Swiss-Prot),   O75126 (UniProtKB/Swiss-Prot),   B2RB61 (UniProtKB/Swiss-Prot),   Q9HC26 (UniProtKB/Swiss-Prot),   Q96GR2 (UniProtKB/Swiss-Prot),   B3KNS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186306   ⟸   NM_001199377
- Peptide Label: isoform 2
- UniProtKB: B7Z2Y6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519692   ⟸   XM_011521390
- Peptide Label: isoform X3
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519693   ⟸   XM_011521391
- Peptide Label: isoform X4
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877514   ⟸   XM_017022025
- Peptide Label: isoform X1
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453585   ⟸   ENST00000557935
RefSeq Acc Id: ENSP00000453800   ⟸   ENST00000558130
RefSeq Acc Id: ENSP00000453547   ⟸   ENST00000559241
RefSeq Acc Id: ENSP00000453447   ⟸   ENST00000559707
RefSeq Acc Id: ENSP00000454188   ⟸   ENST00000559114
RefSeq Acc Id: ENSP00000258873   ⟸   ENST00000258873
RefSeq Acc Id: ENSP00000453451   ⟸   ENST00000560817
RefSeq Acc Id: ENSP00000453605   ⟸   ENST00000560124
RefSeq Acc Id: XP_047288229   ⟸   XM_047432273
- Peptide Label: isoform X2
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233533   ⟸   XM_054377558
- Peptide Label: isoform X1
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233535   ⟸   XM_054377560
- Peptide Label: isoform X5
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233536   ⟸   XM_054377561
- Peptide Label: isoform X3
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233534   ⟸   XM_054377559
- Peptide Label: isoform X2
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233537   ⟸   XM_054377562
- Peptide Label: isoform X4
- UniProtKB: B3KNS7 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96GR2-F1-model_v2 AlphaFold Q96GR2 1-724 view protein structure

Promoters
RGD ID:7230223
Promoter ID:EPDNEW_H20857
Type:initiation region
Name:ACSBG1_1
Description:acyl-CoA synthetase bubblegum family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20858  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,234,530 - 78,234,590EPDNEW
RGD ID:7230225
Promoter ID:EPDNEW_H20858
Type:initiation region
Name:ACSBG1_2
Description:acyl-CoA synthetase bubblegum family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20857  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,234,717 - 78,234,777EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29567 AgrOrtholog
COSMIC ACSBG1 COSMIC
Ensembl Genes ENSG00000103740 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258873 ENTREZGENE
  ENST00000258873.9 UniProtKB/Swiss-Prot
  ENST00000557935.1 UniProtKB/TrEMBL
  ENST00000558130.1 UniProtKB/TrEMBL
  ENST00000559114.5 UniProtKB/TrEMBL
  ENST00000559241.5 UniProtKB/TrEMBL
  ENST00000559707.5 UniProtKB/TrEMBL
  ENST00000560124.5 UniProtKB/TrEMBL
  ENST00000560817.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.980 UniProtKB/TrEMBL
GTEx ENSG00000103740 GTEx
HGNC ID HGNC:29567 ENTREZGENE
Human Proteome Map ACSBG1 Human Proteome Map
InterPro AMP-binding_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synth/Lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synthh-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23205 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23205 ENTREZGENE
OMIM 614362 OMIM
PANTHER ACYL-COA SYNTHETASE BUBBLEGUM FAMILY MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LONG-CHAIN-FATTY-ACID--COA LIGASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672648 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Acetyl-CoA synthetase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACBG1_HUMAN UniProtKB/Swiss-Prot
  B2RB61 ENTREZGENE
  B3KNS7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2Y6 ENTREZGENE, UniProtKB/TrEMBL
  F5H4U6_HUMAN UniProtKB/TrEMBL
  H0YM34_HUMAN UniProtKB/TrEMBL
  H0YMC3_HUMAN UniProtKB/TrEMBL
  H0YMF5_HUMAN UniProtKB/TrEMBL
  H0YMH2_HUMAN UniProtKB/TrEMBL
  H0YMZ0_HUMAN UniProtKB/TrEMBL
  H0YNX0_HUMAN UniProtKB/TrEMBL
  O75126 ENTREZGENE
  Q76N27 ENTREZGENE
  Q96GR2 ENTREZGENE
  Q9HC26 ENTREZGENE
UniProt Secondary B2RB61 UniProtKB/Swiss-Prot
  O75126 UniProtKB/Swiss-Prot
  Q76N27 UniProtKB/Swiss-Prot
  Q9HC26 UniProtKB/Swiss-Prot