PYCARD (PYD and CARD domain containing)

基因基本信息

基因基本信息

symbol:
PYCARD
locus group:
protein-coding gene
location:
16p11.2
gene_family:
alias symbol:
TMS-1|CARD5|ASC
alias name:
apoptosis-associated speck-like|ap…
entrez id:
29108
ensembl gene id:
ENSG00000103490
ucsc gene id:
uc010cak.4
refseq accession:
NM_013258
hgnc_id:
HGNC:16608
approved reserved:
2004-06-25

基因染色体位置

基因染色体位置

16p11.2
基因染色体位置图

基因简述

基因简述

PYCARD（也称为ASC，Apoptosis-associated speck-like protein containing a CARD）是一个重要的基因，编码一种含有CARD（caspase recruitment domain，半胱天冬酶募集结构域）的蛋白质，主要参与炎症反应和细胞凋亡（程序性细胞死亡）的调控。PYCARD蛋白通过其CARD结构域与其他含有CARD的蛋白质相互作用，如NLRP3（NOD-like receptor family pyrin domain containing 3）和caspase-1（半胱天冬酶-1），形成炎症小体（inflammasome），进而激活caspase-1，促进炎症细胞因子IL-1β和IL-18的成熟与释放。PYCARD的主要作用位点包括细胞质和炎症小体复合物，其功能异常可能导致炎症反应失调。PYCARD基因突变或表达异常与多种自身炎症性疾病和自身免疫性疾病相关，如家族性地中海热（FMF）、冷吡啉相关周期性综合征（CAPS）和类风湿性关节炎（RA）。PYCARD过表达可能导致炎症反应过度激活，引发慢性炎症或自身免疫疾病；而降低表达则可能削弱机体对病原体的免疫应答，增加感染风险。PYCARD属于CARD蛋白家族，该家族成员通常含有CARD结构域，参与细胞凋亡、炎症和免疫反应的调控。基因家族的共性是通过CARD结构域介导蛋白质-蛋白质相互作用，调控下游信号通路。PYCARD的功能研究为理解炎症性疾病的发病机制和开发靶向治疗策略提供了重要线索。

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

此基因编码由两个蛋白质 - 蛋白质相互作用结构域的接头蛋白：N-末端PYRIN-PAAD-大坪域（PYD）和一个C-末端的caspase-募集结构域（CARD）。的PYD和CARD域是通过激活caspase介导的在炎症和凋亡信号传导途径大信号复合组件的六螺旋束死亡域倍超家族的成员。在正常细胞中，该蛋白质定位于细胞质;然而，在经历凋亡的细胞中，它形成靠近核周球状聚集体。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2008年7月提供]

OMIM数据库中对PYCARD基因的介绍     Wikipedia数据库中对PYCARD基因的介绍

基因序列

基因序列

PYCARD基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

PYCARD基因的碱基突变：           仅显示部分snp
rs8056505       rs11648861       rs11867108       rs61086377       rs73532217       rs75471387       rs79351176       rs79464842       rs113157066       rs113789888       rs115908198       rs116026792       rs116320534       rs117603813       rs139397394       rs140177857       rs141037758      

基因表达

基因表达

PYCARD基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TTCTACCTGGAGACCTACG
58
CTATAAAGTGCAGGCCCTG
58
CTTCTACCTGGAGACCTACG
59
CTATAAAGTGCAGGCCTGG
58
TTCTACCTGGAGACCTACG
58
ATATGGGCCAAGTGATCCC
59
CATATCCTTCCAGGCTCTG
57
CTATAAAGTGCAGGCCTGG
58
TATCCTTCCAGGCTCTGGA
59
TCTATAAAGTGCAGGCCTGG
60
CTTCTACCTGGAGACCTACG
59
TATAAAGTGCAGGCCCTGG
60
TCTACCTGGAGACCTACGG
60
TCTATAAAGTGCAGGCCTGG
60
TCTACCTGGAGACCTACGG
60
GATATGGGCCAAGTGATCC
58
TCTACCTGGAGACCTACGG
60
TATAAAGTGCAGGCCCTGG
60
TTCTACCTGGAGACCTACG
58
CTATAAAGTGCAGGCCTGG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

PYCARD基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

PYCARD基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001773
Q9ULZ3 (UniProtKB)
IMP
GO:0002020
Q9ULZ3 (UniProtKB)
IPI
GO:0002218
Q9ULZ3 (UniProtKB)
IDA
GO:0002277
Q9ULZ3 (UniProtKB)
ISS
GO:0002588
Q9ULZ3 (UniProtKB)
ISS
GO:0002821
Q9ULZ3 (UniProtKB)
IMP
GO:0005138
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005515
Q9ULZ3 (UniProtKB)
IPI
GO:0005523
Q9ULZ3 (UniProtKB)
IPI
GO:0005634
Q9ULZ3 (UniProtKB)
ISS
GO:0005634
Q9ULZ3 (UniProtKB)
IDA
GO:0005730
Q9ULZ3 (UniProtKB)
IDA
GO:0005737
Q9ULZ3 (UniProtKB)
IDA
GO:0005737
Q9ULZ3 (UniProtKB)
NAS
GO:0005737
Q9ULZ3 (UniProtKB)
IDA
GO:0005737
Q9ULZ3 (UniProtKB)
IDA
GO:0005737
Q9ULZ3 (UniProtKB)
IDA
GO:0005739
Q9ULZ3 (UniProtKB)
IDA
GO:0005783
Q9ULZ3 (UniProtKB)
IEA
GO:0005829
Q9ULZ3 (UniProtKB)
TAS
GO:0005829
Q9ULZ3 (UniProtKB)
TAS
GO:0005829
Q9ULZ3 (UniProtKB)
TAS
GO:0005829
Q9ULZ3 (UniProtKB)
TAS
GO:0005829
Q9ULZ3 (UniProtKB)
TAS
GO:0006915
Q9ULZ3 (UniProtKB)
TAS
GO:0006919
Q9ULZ3 (UniProtKB)
NAS
GO:0006954
Q9ULZ3 (UniProtKB)
IEA
GO:0007165
Q9ULZ3 (UniProtKB)
NAS
GO:0008385
Q9ULZ3 (UniProtKB)
TAS
GO:0008656
Q9ULZ3 (UniProtKB)
NAS
GO:0010803
Q9ULZ3 (UniProtKB)
IMP
GO:0017024
Q9ULZ3 (UniProtKB)
IPI
GO:0019899
Q9ULZ3 (UniProtKB)
IPI
GO:0030838
Q9ULZ3 (UniProtKB)
ISS
GO:0031647
Q9ULZ3 (UniProtKB)
ISS
GO:0032088
Q9ULZ3 (UniProtKB)
IMP
GO:0032090
Q9ULZ3 (UniProtKB)
IPI
GO:0032090
Q9ULZ3 (UniProtKB)
IPI
GO:0032688
Q9ULZ3 (UniProtKB)
IMP
GO:0032729
Q9ULZ3 (UniProtKB)
ISS
GO:0032755
Q9ULZ3 (UniProtKB)
ISS
GO:0032760
Q9ULZ3 (UniProtKB)
IMP
GO:0032760
Q9ULZ3 (UniProtKB)
IMP
GO:0033209
Q9ULZ3 (UniProtKB)
IDA
GO:0042104
Q9ULZ3 (UniProtKB)
ISS
GO:0042771
Q9ULZ3 (UniProtKB)
IMP
GO:0042802
Q9ULZ3 (UniProtKB)
IPI
GO:0042802
Q9ULZ3 (UniProtKB)
IPI
GO:0042803
Q9ULZ3 (UniProtKB)
IDA
GO:0043065
Q9ULZ3 (UniProtKB)
IDA
GO:0043124
Q9ULZ3 (UniProtKB)
IDA
GO:0043280
Q9ULZ3 (UniProtKB)
IDA
GO:0044351
Q9ULZ3 (UniProtKB)
ISS
GO:0045087
Q9ULZ3 (UniProtKB)
IEA
GO:0046330
Q9ULZ3 (UniProtKB)
IMP
GO:0050718
Q9ULZ3 (UniProtKB)
IDA
GO:0050766
Q9ULZ3 (UniProtKB)
ISS
GO:0050829
Q9ULZ3 (UniProtKB)
IMP
GO:0050829
Q9ULZ3 (UniProtKB)
IMP
GO:0050870
Q9ULZ3 (UniProtKB)
IMP
GO:0051091
Q9ULZ3 (UniProtKB)
IDA
GO:0051092
Q9ULZ3 (UniProtKB)
IDA
GO:0051092
Q9ULZ3 (UniProtKB)
IDA
GO:0051607
Q9ULZ3 (UniProtKB)
IDA
GO:0070374
Q9ULZ3 (UniProtKB)
IMP
GO:0070700
Q9ULZ3 (UniProtKB)
IPI
GO:0071222
Q9ULZ3 (UniProtKB)
IDA
GO:0071347
Q9ULZ3 (UniProtKB)
IDA
GO:0071356
Q9ULZ3 (UniProtKB)
IDA
GO:0071901
Q9ULZ3 (UniProtKB)
IDA
GO:0072332
Q9ULZ3 (UniProtKB)
IMP
GO:0072558
Q9ULZ3 (UniProtKB)
IDA
GO:0072559
Q9ULZ3 (UniProtKB)
IDA
GO:0090197
Q9ULZ3 (UniProtKB)
IMP
GO:0090200
Q9ULZ3 (UniProtKB)
IDA
GO:0097153
Q9ULZ3 (UniProtKB)
IBA
GO:0097169
Q9ULZ3 (UniProtKB)
IDA
GO:2000406
Q9ULZ3 (UniProtKB)
ISS
GO:2000484
Q9ULZ3 (UniProtKB)
IMP
GO:2000778
Q9ULZ3 (UniProtKB)
IMP
GO:2001056
Q9ULZ3 (UniProtKB)
IDA
GO:2001181
Q9ULZ3 (UniProtKB)
IMP
GO:2001238
Q9ULZ3 (UniProtKB)
IDA
GO:2001242
Q9ULZ3 (UniProtKB)
IDA
GO:0008385
Q9ULZ3 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 PYCARD基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Colorectal Neoplasms 0.125720142 2 0 BeFree_CTD_human_LHGDN
Stomach Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Non-Small Cell Lung Carcinoma 0.121357209 5 0 BeFree_CTD_human
Adenocarcinoma 0.121357209 5 0 BeFree_CTD_human
Liver carcinoma 0.120542884 2 0 BeFree_CTD_human
Carcinoma, Large Cell 0.120271442 1 0 BeFree_CTD_human
Squamous cell carcinoma 0.120271442 1 0 BeFree_CTD_human
Carcinoma, Small Cell 0.120271442 2 0 BeFree_CTD_human
Albuminuria 0.12 1 0 CTD_human
Kidney Diseases 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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