1. Gene
  2. PAFAH1B2 - platelet activating factor acetylhydrolase 1b catalytic subunit 2 Gene

PAFAH1B2 - platelet activating factor acetylhydrolase 1b catalytic subunit 2 Gene

中文名称:血小板活化因子乙酰水解酶 1b 催化亚基 2

种属: Homo sapiens

同用名: HEL-S-303

基因 ID: 5049 | 基因类型: protein coding

关于 PAFAH1B2

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,144,287-117,178,173 (from NCBI)

This gene has 8 transcripts (splice variants), 132 orthologues, 2 paralogues and is associated with 46 phenotypes. Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues.

功能概要

血小板活化因子乙酰水解酶 (PAFAH) 将血小板活化因子 (PAF) 灭活为乙酸盐和 LYSO-PAF。该基因编码 PAFAH 的 beta 亚基,其他亚基是 alpha 和 gamma。已针对该基因描述了多个选择性剪接的转录物变体。[RefSeq 提供,2014 年 1 月]

Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the Other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]

PAFAH1B2 基因产物(5)

mRNA Protein Name
NM_001184746.2 NP_001171675.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b
NM_001184747.2 NP_001171676.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform c
NM_001184748.2 NP_001171677.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d
NM_001309431.2 NP_001296360.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform e
NM_002572.4 NP_002563.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15572112 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of macroautophagy IMP
IMP: 通过突变表型推断
22354037 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

PAFAH1B2 蛋白结构

Lipase_GDSL_2

Lipase_GDSL_2: GDSL-like Lipase/Acylhydrolase family (43 - 205)

  • 0
  • 100
  • 200
  • 229 a.a.
蛋白主名 其他名称

platelet-activating factor acetylhydrolase IB subunit alpha2

PAF acetylhydrolase 30 kDa subunit

PAFAH1B2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1 32296183
种属内
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1 32296183
种属内
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1 32296183
种属内
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102 32296183
种属内
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102 16189514
种属内
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102 32296183
种属内
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102 33961781
种属内
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102 32296183
种属内
PAFAH1B2 P68402 PAFAH1B1 Homo sapiens P43034 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PAFAH1B2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71185 PAFAHB Protein, Human (His) P68402 (S2-A229) ≥95%

关联疾病

疾病名称 别名
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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 PAFAH1B2 RGD RGD:620332
Macaca mulatta PAFAH1B2 VGNC VGNC:75748
Felis catus PAFAH1B2 VGNC VGNC:68685
Mus musculus PAFAH1B2 MGD MGI:108415
Bos taurus PAFAH1B2 VGNC VGNC:32550
Others PAFAH1B2 NCBI