1. Gene
  2. OXSM - 3-oxoacyl-ACP synthase, mitochondrial Gene

OXSM - 3-oxoacyl-ACP synthase, mitochondrial Gene

中文名称:3-oxoacyl-ACP 合酶,线粒体

种属: Homo sapiens

同用名: KS; CEM1; KASI; FASN2D

基因 ID: 54995 | 基因类型: protein coding

关于 OXSM

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:25,790,090-25,794,531 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 3.3), thyroid (RPKM 1.6) and 25 other tissues.

功能概要

该基因编码一种β-酮脂酰合成酶。所编码的酶是线粒体中脂肪酸链延长所必需的。已经描述了可变剪接的转录变体。[RefSeq 提供,2009 年 2 月]

This gene encodes a beta-ketoacyl synthetase. The encoded Enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

OXSM 基因产物(2)

mRNA Protein Name
NM_001145391.2 NP_001138863.1 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 2 precursor
NM_017897.3 NP_060367.1 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 1 precursor
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 3-oxoacyl-[acyl-carrier-protein] synthase activity IDA
IDA: 通过直接分析推断
15668256 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acyl-CoA metabolic process IDA
IDA: 通过直接分析推断
15668256 GOA
involved in medium-chain fatty acid biosynthetic process IDA
IDA: 通过直接分析推断
15668256 GOA
involved in short-chain fatty acid biosynthetic process IDA
IDA: 通过直接分析推断
15668256 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IMP
IMP: 通过突变表型推断
15668256 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

OXSM 蛋白结构

ketoacyl-synt

ketoacyl-synt: Beta-ketoacyl synthase, N-terminal domain (42 - 290)

Ketoacyl-synt_C

Ketoacyl-synt_C: Beta-ketoacyl synthase, C-terminal domain (299 - 414)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
蛋白主名 其他名称

3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial

3-ketoacyl-acyl carrier protein synthase

关联疾病

疾病名称 别名
Animal Phobia

Zoophobia

Fear Of Animals

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type

Gd Iii

Gaucher Disease, Chronic Neuronopathic Type

Gaucher Disease, Juvenile And Adult, Cerebral

Gaucher Disease Type 3

GD3

Gaucher'S Disease Type Iii

Gaucher Disease Type Iii

Gd 3

Cerebral Juvenile And Adult Form Of Gaucher Disease

Chronic Neuronopathic Gaucher Disease

Gaucher Disease 3

Cerebral, Juvenile And Adult, Gaucher Disease

Gaucher Disease Chronic Neuronopathic Type

Gaucher Disease Type Ii

Subacute Neuronopathic Gaucher Disease

Type 3 Gaucher Disease

Gaucher Disease, Type 3

Gaucher Disease, Type 2

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 OXSM VGNC VGNC:32513
Canis familiaris OXSM VGNC VGNC:44204
Felis catus OXSM VGNC VGNC:102794
Rattus norvegicus OXSM RGD RGD:1311092
Mus musculus OXSM MGD MGI:1918397
Macaca mulatta OXSM VGNC VGNC:75681