2. Gene
  3. NLRP6 - NLR family pyrin domain containing 6 Gene

NLRP6 - NLR family pyrin domain containing 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 NLR 家族 pyrin 结构域 6

种属: Homo sapiens

同用名: AVR; NAVR; PAN3; NALP6; PYPAF5; CLR11.4; NAVR/AVR

基因 ID: 171389 | 基因类型: protein coding

关于 NLRP6

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:278,407-285,388 (from NCBI)

This gene has 3 transcripts (splice variants), 67 orthologues and 20 paralogues. Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 17.7) and 3 other tissues.

功能概要

该基因编码的蛋白质结合精氨酸-加压素，可能参与精氨酸-加压素介导的肾盐水平衡调节。编码的蛋白质还介导结肠中的炎症反应，以允许从肠上皮损伤中恢复并防止肿瘤发生和结肠炎的发展。最后，这种蛋白质可以增加 NF-kappa-B 的激活，通过与 ASC 的相互作用激活 CASP1，以及 cAMP 积累。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2013 年 2 月]

The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

NLRP6 基因产物(2)

mRNA Protein Name
NM_001276700.2 NP_001263629.1 NACHT, LRR and PYD domains-containing protein 6 isoform 2
NM_138329.2 NP_612202.2 NACHT, LRR and PYD domains-containing protein 6 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 double-stranded RNA binding IDA
IDA: 通过直接分析推断
34678144 GOA
enables lipopolysaccharide binding IDA
IDA: 通过直接分析推断
31932628 GOA
enables lipoteichoic acid binding IDA
IDA: 通过直接分析推断
30392956 GOA
enables molecular condensate scaffold activity IDA
IDA: 通过直接分析推断
34678144 GOA
enables pattern recognition receptor activity IDA
IDA: 通过直接分析推断
31932628 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
34678144 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in NLRP6 inflammasome complex assembly IDA
IDA: 通过直接分析推断
30674671 GOA
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
34161762 GOA
involved in defense response to Gram-positive bacterium IDA
IDA: 通过直接分析推断
33377178 GOA
involved in defense response to virus IDA
IDA: 通过直接分析推断
34161762 GOA
involved in positive regulation of inflammatory response IDA
IDA: 通过直接分析推断
33377178 GOA
involved in positive regulation of interleukin-18-mediated signaling pathway IDA
IDA: 通过直接分析推断
33377178 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
30674671 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of NLRP6 inflammasome complex IDA
IDA: 通过直接分析推断
30674671 GOA
is active in cytosol IDA
IDA: 通过直接分析推断
31932628 GOA
is active in non-membrane-bounded organelle IDA
IDA: 通过直接分析推断
34678144 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

NLRP6 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (19 - 99)

NACHT

NACHT: NACHT domain (197 - 365)

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

NACHT, LRR and PYD domains-containing protein 6

NACHT, leucine rich repeat and PYD containing 6

关联疾病

疾病名称 别名
Chemical Colitis
Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity
Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes
Salmonellosis

Salmonella Infections

Salmonella Infection
Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09362 NLRP6 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17708 Nlrp6 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24173 Nlrp6 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NLRP6 VGNC VGNC:75234
Mus musculus NLRP6 MGD MGI:2141990
Rattus norvegicus NLRP6 RGD RGD:708549
Bos taurus NLRP6 VGNC VGNC:32119
Canis familiaris NLRP6 VGNC VGNC:43850
Felis catus NLRP6 VGNC VGNC:81969
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