1. Gene
  2. ACSBG1 - acyl-CoA synthetase bubblegum family member 1 Gene

ACSBG1 - acyl-CoA synthetase bubblegum family member 1 Gene

中文名称:酰基辅酶 A 合成酶泡泡糖家族成员 1

种属: Homo sapiens

同用名: BG; BG1; BGM; LPD; GR-LACS

基因 ID: 23205 | 基因类型: protein coding

关于 ACSBG1

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,167,468-78,234,565 (from NCBI)

This gene has 14 transcripts (splice variants), 228 orthologues and 12 paralogues. Ubiquitous expression in brain (RPKM 8.4), adrenal (RPKM 6.3) and 25 other tissues.

功能概要

该基因编码的蛋白质具有长链酰基辅酶 A 合成酶活性。它被认为在大脑超长链脂肪酸代谢和髓鞘形成中起着核心作用。[RefSeq 提供,2008 年 7 月]

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]

ACSBG1 基因产物(2)

mRNA Protein Name
NM_001199377.2 NP_001186306.1 long-chain-fatty-acid--CoA ligase ACSBG1 isoform 2
NM_015162.5 NP_055977.3 long-chain-fatty-acid--CoA ligase ACSBG1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
10954726 GOA
enables very long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
10954726 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
10954726 GOA
involved in very long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
10954726 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10954726 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24269233 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24269233 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

long-chain-fatty-acid--CoA ligase ACSBG1

bubblegum

关联疾病

疾病名称 别名
Epilepsy, Idiopathic Generalized 13

Epilepsy, Childhood Absence 4

EIG13

Epilepsy, Idiopathic Generalized, Susceptibility To, 13

Epilepsy, Childhood Absence, Susceptibility To, 4

Idiopathic Generalized Epilepsy 13

Epilepsy, Juvenile Myoclonic, Susceptibility To, 5

Epilepsy, Juvenile Myoclonic 5

ECA4

Juvenile Myoclonic Epilepsy 5

EJM5

Susceptibility To Juvenile Myoclonic Epilepsy 5

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 13

Vulvar Leiomyosarcoma
Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

ALD

Siemerling-Creutzfeldt Disease

X-Ald

X-Linked Cerebral Adrenoleukodystrophy

Bronze Schilder Disease

Melanodermic Leukodystrophy

Addison Disease And Cerebral Sclerosis

Adrenomyeloneuropathy, Adult

Diffuse Sclerosis

X-Cald

Adrenomyeloneuropathy

Encephalitis Periaxialis Concentrica

Encephalitis Periaxialis, Schilder'S

Sudanophilic Cerebral Sclerosis

Ald Childhood Cerebral Form

Adrenoleukodystrophy X-Linked Cerebral Form

Adrenoleukodystrophy Childhood Cerebral Form

Childhood Cerebral Ald

Schilder Disease

X-Linked Ald

Adrenoleukodystrophy, X-Linked

Amn

Diffuse Cerebral Sclerosis Of Schilder

Systemic Scleroderma

Balo'S Concentric Sclerosis

Ald - [Adrenoleukodystrophy]

Addison-Schilder

Vulvar Sarcoma

Sarcoma Of Vulva

Vulva Sarcoma

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus ACSBG1 VGNC VGNC:25560
Felis catus ACSBG1 VGNC VGNC:59531
Macaca mulatta ACSBG1 VGNC VGNC:69547
Rattus norvegicus ACSBG1 RGD RGD:708557
Mus musculus ACSBG1 MGD MGI:2385656
Canis familiaris ACSBG1 VGNC VGNC:37529