1. Gene
  2. NLRP11 - NLR family pyrin domain containing 11 Gene

NLRP11 - NLR family pyrin domain containing 11 Gene

中文名称:含 NLR 家族 pyrin 结构域 11

种属: Homo sapiens

同用名: NOD17; PAN10; NALP11; PYPAF6; PYPAF7; CLR19.6

基因 ID: 204801 | 基因类型: protein coding

关于 NLRP11

Cytogenetic location: 19q13.42-q13.43 Genomic coordinates (GRCh38): 19:55,785,399-55,836,575 (from NCBI)

This gene has 6 transcripts (splice variants), 36 orthologues and 20 paralogues. Low expression observed in reference dataset.

功能概要

该基因是 NOD 样受体蛋白 (NLRP) 基因家族的成员,编码的蛋白质具有 N 末端焦蛋白死亡 (PYD) 结构域和三磷酸核苷水解酶 (NACHT) 结构域以及 C 末端富含亮氨酸的重复序列 (LRR) 区域。该基因已被证明可以调节促炎信号转导通路中的半胱天冬酶,并且根据对具有相似结构域结构的 NLRP 基因家族其他成员的研究,预计该基因将形成多蛋白炎性体复合物的一部分。选择性剪接产生多个转录本变体,编码不同的同种型。[RefSeq 提供,2017 年 5 月]

This gene is a member of the the NOD-like Receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of Other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]

NLRP11 基因产物(5)

mRNA Protein Name
NM_001297743.3 NP_001284672.1 NACHT, LRR and PYD domains-containing protein 11 isoform 2
NM_001385451.2 NP_001372380.1 NACHT, LRR and PYD domains-containing protein 11 isoform 3
NM_001385453.2 NP_001372382.1 NACHT, LRR and PYD domains-containing protein 11 isoform 4
NM_001394894.2 NP_001381823.1 NACHT, LRR and PYD domains-containing protein 11 isoform 1
NM_145007.5 NP_659444.2 NACHT, LRR and PYD domains-containing protein 11 isoform 1

NLRP11 蛋白结构

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (8 - 85)

NACHT

NACHT: NACHT domain (149 - 315)

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  • 1033 a.a.
蛋白主名 其他名称

NACHT, LRR and PYD domains-containing protein 11

NACHT, leucine rich repeat and PYD containing 11

关联疾病

疾病名称 别名
Petrositis

Acute Petrositis

Chronic Petrositis

Inflammation Of Petrous Bone

Osteitis Of Petrous Bone

Osteomyelitis Of Petrous Bone

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause 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