1. Gene
  2. ACSS2 - acyl-CoA synthetase short chain family member 2 Gene

ACSS2 - acyl-CoA synthetase short chain family member 2 Gene

中文名称:酰基辅酶 A 合成酶短链家族成员 2

种属: Homo sapiens

同用名: ACS; ACSA; ACAS2; ACECS; AceCS1; dJ1161H23.1

基因 ID: 55902 | 基因类型: protein coding

关于 ACSS2

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,874,989-34,927,959 (from NCBI)

This gene has 24 transcripts (splice variants), 219 orthologues and 13 paralogues. Broad expression in fat (RPKM 49.2), duodenum (RPKM 47.1) and 24 other tissues.

功能概要

该基因编码一种胞质酶,该酶催化乙酸盐的活化,用于脂质合成和能量产生。该蛋白质充当单体并在需要 ATP 的反应中从乙酸中产生乙酰辅酶 A。该基因的表达受甾醇调节元件结合蛋白的调节,甾醇调节元件结合蛋白是激活胆固醇和不饱和脂肪酸合成所需基因的转录因子。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 7 月]

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of Cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

ACSS2 基因产物(3)

mRNA Protein Name
NM_001076552.3 NP_001070020.2 acetyl-coenzyme A synthetase, cytoplasmic isoform 2
NM_001242393.2 NP_001229322.1 acetyl-coenzyme A synthetase, cytoplasmic isoform 3
NM_018677.4 NP_061147.1 acetyl-coenzyme A synthetase, cytoplasmic 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 acetate-CoA ligase activity IDA
IDA: 通过直接分析推断
10843999 GOA
enables acetate-CoA ligase activity IMP
IMP: 通过突变表型推断
28552616 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28552616 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid biosynthetic process IMP
IMP: 通过突变表型推断
10843999 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
28003429 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28552616 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

ACSS2 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (115 - 574)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (583 - 661)

  • 0
  • 200
  • 400
  • 600
  • 701 a.a.
蛋白主名 其他名称

acetyl-coenzyme A synthetase, cytoplasmic

acetate thiokinase

ACSS2 抗体

目录号 产品名 应用 反应物种
HY-P80483 ACSS2 Antibody (YA645) WB, ICC/IF Human, Mouse, Rat
HY-P82238 ACSS2 Antibody (YA1983) WB Human

关联疾病

疾病名称 别名
Orofacial Cleft 1

OFC1

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 1

Orofacial Cleft, Nonsyndromic

Ofc

Cleft Lip/Palate, Nonsyndromic

Orofacial Cleft-1

Nonsyndromic Cleft Lip With Or Without Cleft Palate 1

Nonsyndromic Cleft Lip Palate

Otofaciocervical Syndrome 1

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy

Foamy Myocardial Transformation Of Infancy

Infantile Histiocytoid Cardiomyopathy

Infantile Xanthomatous Cardiomyopathy

Oncocytic Cardiomyopathy

Cardiomyopathy, Infantile Xanthomatous

Cardiomyopathy, Focal Lipid

Cardiomyopathy, Oncocytic

Focal Lipid Cardiomyopathy

Infantile Cardiomyopathy With Histiocytoid Change

CMIH

Cardiomyopathy Focal Lipid

Cardiomyopathy Infantile Xanthomatous

Cardiomyopathy Oncocytic

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

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
Rattus norvegicus ACSS2 RGD RGD:1305489
Felis catus ACSS2 VGNC VGNC:79978
Bos taurus ACSS2 VGNC VGNC:25571
Mus musculus ACSS2 MGD MGI:1890410
Macaca mulatta ACSS2 VGNC VGNC:69410
Canis familiaris ACSS2 VGNC VGNC:37537
Others ACSS2 NCBI