1. Gene
  2. NLRP9 - NLR family pyrin domain containing 9 Gene

NLRP9 - NLR family pyrin domain containing 9 Gene

中文名称:含 NLR 家族 pyrin 结构域 9

种属: Homo sapiens

同用名: NOD6; NALP9; PAN12; CLR19.1

基因 ID: 338321 | 基因类型: protein coding

关于 NLRP9

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,708,438-55,738,402 (from NCBI)

This gene has 2 transcripts (splice variants), 77 orthologues and 20 paralogues. Biased expression in prostate (RPKM 1.0), testis (RPKM 0.4) and 9 other tissues.

功能概要

该基因编码的蛋白质属于 NALP 蛋白家族。 NALP 蛋白家族的成员通常包含一个 NACHT 结构域、一个 NACHT 相关结构域 (NAD) 、一个 C 末端富含亮氨酸重复序列 (LRR) 区域和一个 N 末端热蛋白结构域 (PYD) 。这种蛋白质可能在先天免疫系统中发挥调节作用,因为类似的家族成员属于信号诱导的多蛋白复合物,炎性体,可激活促炎半胱天冬酶、caspase-1 和 caspase-5。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, Caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

NLRP9 基因产物(1)

mRNA Protein Name
NM_176820.4 NP_789790.2 NACHT, LRR and PYD domains-containing protein 9
基因本体论
  • 分子功能
  • 细胞组分
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
28636595 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of canonical inflammasome complex IDA
IDA: 通过直接分析推断
28636595 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

NLRP9 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (8 - 90)

NACHT

NACHT: NACHT domain (146 - 311)

LRR_6

LRR_6: Leucine Rich repeat (799 - 820)

LRR_6

LRR_6: Leucine Rich repeat (857 - 877)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 991 a.a.
蛋白主名 其他名称

NACHT, LRR and PYD domains-containing protein 9

NACHT, LRR and PYD containing protein 9

关联疾病

疾病名称 别名
Night Blindness, Congenital Stationary, Type 1d

Congenital Stationary Night Blindness 1d

CSNB1D

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1d, Autosomal Recessive

Congenital Stationary Night Blindness 1d Autosomal Recessive

Night Blindness, Congenital Stationary, 1d

Complete Autosomal Recessive Csnb

Blindness, Night, Stationary, Congenital, Type 1d

Petrositis

Acute Petrositis

Chronic Petrositis

Inflammation Of Petrous Bone

Osteitis Of Petrous Bone

Osteomyelitis Of Petrous Bone

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
Canis familiaris NLRP9 VGNC VGNC:43852
Rattus norvegicus NLRP9 RGD RGD:1308981
Felis catus NLRP9 VGNC VGNC:63833
Bos taurus NLRP9 VGNC VGNC:32121
Others NLRP9 NCBI