PPP1R13L (protein phosphatase 1 regulatory subunit 13 like)

基因基本信息

基因基本信息

symbol:
PPP1R13L
locus group:
protein-coding gene
location:
19q13.32
gene_family:
Ankyrin repeat domain containing
alias symbol:
RAI|IASPP
alias name:
RelA-associated Inhibitor
entrez id:
10848
ensembl gene id:
ENSG00000104881
ucsc gene id:
uc002pbo.4
refseq accession:
NM_006663
hgnc_id:
HGNC:18838
approved reserved:
2004-11-26

基因染色体位置

基因染色体位置

19q13.32

基因简述

基因简述

PPP1R13L（Protein Phosphatase 1 Regulatory Subunit 13 Like）是一种重要的调节蛋白，属于蛋白磷酸酶1（PP1）的调节亚基家族。该基因编码的蛋白质通过与PP1相互作用，调控其磷酸酶活性，从而参与多种细胞过程，包括细胞凋亡、DNA损伤修复和信号转导。PPP1R13L在细胞应激反应中发挥关键作用，特别是在p53介导的凋亡途径中，它通过抑制p53的活性来调节细胞命运。PPP1R13L的主要作用位点包括细胞核和细胞质，它在DNA损伤后会被招募到损伤位点，参与修复过程。突变或异常表达可能影响其功能，导致细胞凋亡失调或DNA修复缺陷，与癌症（如肺癌、乳腺癌）和神经退行性疾病的发生有关。PPP1R13L过表达可能抑制p53的促凋亡功能，促进细胞存活和肿瘤发展；而降低表达则可能增强p53活性，导致过度凋亡或细胞周期停滞。该基因属于PPP1R调节亚基家族，该家族成员均通过结合PP1来调控其底物特异性和亚细胞定位，共同参与细胞代谢、增殖和应激反应的精细调控。

中文English

None

OMIM数据库中对PPP1R13L基因的介绍     Wikipedia数据库中对PPP1R13L基因的介绍

基因序列

基因序列

PPP1R13L基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MDSEAFQSAR DFLDMNFQSL AMKHMDLKQM ELDTAAAKVD
41ELTKQLESLW SDSPAPPGPQ AGPPSRPPRY SSSSIPEPFG
81 SRGSPRKAA TDGADTPFGR SESAPTLHPY SPLSPKGRPS
121SPRTPLYLQP DAYGSLDRAT SPRPRAFDGA GSSLGRAPSP
161R PGPGPLRQ QGPPTPFDFL GRAGSPRGSP LAEGPQAFFP
201ERGPSPRPPA TAYDAPASAF GSSLLGSGGS AFAPPLRAQD
241DL TLRRRPP KAWNESDLDV AYEKKPSQTA SYERLDVFAR
281PASPSLQLLP WRESSLDGLG GTGKDNLTSA TLPRNYKVSP
321LAS DRRSDA GSYRRSLGSA GPSGTLPRSW QPVSRIPMPP
361SSPQPRGAPR QRPIPLSMIF KLQNAFWEHG ASRAMLPGSP
401LFTR APPPK LQPQPQPQPQ PQSQPQPQLP PQPQTQPQTP
441TPAPQHPQQT WPPVNEGPPK PPTELEPEPE IEGLLTPVLE
481AGDVD EGPV ARPLSPTRLQ PALPPEAQSV PELEEVARVL
521AEIPRPLKRR GSMEQAPAVA LPPTHKKQYQ QIISRLFHRH
561GGPGPG GPE PELSPITEGS EARAGPPAPA PPAPIPPPAP
601SQSSPPEQPQ SMEMRSVLRK AGSPRKARRA RLNPLVLLLD
641AALTGEL EV VQQAVKEMND PSQPNEEGIT ALHNAICGAN
681YSIVDFLITA GANVNSPDSH GWTPLHCAAS CNDTVICMAL
721VQHGAAIF A TTLSDGATAF EKCDPYREGY ADCATYLADV
761EQSMGLMNSG AVYALWDYSA EFGDELSFRE GESVTVLRRD
801GPEETDWWW AALHGQEGYV PRNYFGLFPR VKPQRSKV
结构预测来自 AlphaFold DB（UniProt: Q8WUF5），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

PPP1R13L基因的碱基突变：           仅显示部分snp
rs928911       rs959457       rs967591       rs1005165       rs1005166       rs1046282       rs2013521       rs2336218       rs4803817       rs8103749       rs8113779       rs10412761       rs11314106       rs11882644       rs12104246       rs34014819       rs34113023      

基因表达

基因表达

PPP1R13L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
CAACGACACAGTCATCTGC
59
ATACTCTGCTCGACGTCTG
59
TCAAAGGAGTAAAGTCTAGCAG
58
AATGCTTGTTTCTGTCAGCC
60
GAACTACTTCGGGATCCCG
60
AATATCCAGTGGTGTGGTGG
60
ACATGAACTTCCAGTCGCT
59
TTGGTCAGTTCATCCACCT
59
AACGACACAGTCATCTGCA
60
ATACTCTGCTCGACGTCTG
59
CATGAACTTCCAGTCGCTG
59
TTGGTCAGTTCATCCACCT
59
GGAACTACTTCGGGATCCC
59
ATATCCAGTGGTGTGGTGG
59
CTCAAAGGAGTAAAGTCTAGCAG
59
ATGCTTGTTTCTGTCAGCC
59
CATGAACTTCCAGTCGCTG
59
GTCAGTTCATCCACCTTGG
58
GACACAGTCATCTGCATGG
59
ATACTCTGCTCGACGTCTG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

PPP1R13L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

PPP1R13L基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0006351
A0A087WUG2 (UniProtKB)
IEA
GO:0006915
A0A087WUG2 (UniProtKB)
IEA
GO:0008134
A0A087WUG2 (UniProtKB)
IEA
GO:0005737
K7EN03 (UniProtKB)
IDA
GO:0006351
K7EN03 (UniProtKB)
IEA
GO:0006915
K7EN03 (UniProtKB)
IEA
GO:0008134
K7EN03 (UniProtKB)
IEA
GO:0030054
K7EN03 (UniProtKB)
IDA
GO:0045171
K7EN03 (UniProtKB)
IDA
GO:0006351
K7EPP1 (UniProtKB)
IEA
GO:0006915
K7EPP1 (UniProtKB)
IEA
GO:0008134
K7EPP1 (UniProtKB)
IEA
GO:0000122
Q8WUF5 (UniProtKB)
IEA
GO:0003215
Q8WUF5 (UniProtKB)
IEA
GO:0003229
Q8WUF5 (UniProtKB)
IEA
GO:0003714
Q8WUF5 (UniProtKB)
TAS
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005515
Q8WUF5 (UniProtKB)
IPI
GO:0005634
Q8WUF5 (UniProtKB)
TAS
GO:0005654
Q8WUF5 (UniProtKB)
TAS
GO:0005737
Q8WUF5 (UniProtKB)
IDA
GO:0006351
Q8WUF5 (UniProtKB)
IEA
GO:0006915
Q8WUF5 (UniProtKB)
IEA
GO:0008134
Q8WUF5 (UniProtKB)
IEA
GO:0009791
Q8WUF5 (UniProtKB)
IEA
GO:0030054
Q8WUF5 (UniProtKB)
IDA
GO:0031076
Q8WUF5 (UniProtKB)
IEA
GO:0035264
Q8WUF5 (UniProtKB)
IEA
GO:0042633
Q8WUF5 (UniProtKB)
IEA
GO:0042802
Q8WUF5 (UniProtKB)
IPI
GO:0045171
Q8WUF5 (UniProtKB)
IDA
GO:0045597
Q8WUF5 (UniProtKB)
IEA
GO:0048871
Q8WUF5 (UniProtKB)
IEA
GO:0060048
Q8WUF5 (UniProtKB)
IEA
GO:1901796
Q8WUF5 (UniProtKB)
TAS

基因相关microRNA

基因相关microRNA

可能调控 PPP1R13L基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
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关联基因 作用方式 资源库来源/分值

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
leukemia 0.12 1 0 CTD_human
Malignant neoplasm of lung 0.007177041 10 10 BeFree_GAD
Multiple Myeloma 0.005276948 3 0 BeFree_GAD
Malignant neoplasm of breast 0.003452799 4 1 BeFree_GAD
Colorectal Cancer 0.002909916 2 0 BeFree_GAD
Adenoma 0.00272435 1 0 LHGDN
Carcinoma of lung 0.002442977 9 10 BeFree
Malignant neoplasm of urinary bladder 0.002367032 1 0 GAD
Breast Carcinoma 0.001085767 4 1 BeFree
Carcinogenesis 0.000814326 3 0 BeFree

基因相关文献

基因相关文献

Structural alterations in PPP1R13L, SAE1, ATP5A1 and PCK2 disrupt NF-κB signalling and mitochondrial metabolism in primary dermal fibroblasts in systemic sclerosis.
Li J, Abegg D, Malinovska L, Rudnik M, Distler O, Błyszczuk P, Picotti P, Kania G Rheumatology (Oxford) IF: 4.7 2026-04-06
Targeted Anti-IL-1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L-Related Arrhythmogenic Cardiomyopathy.
Renberg A, Coppersmith S, Merritt O, Heider A, Helms A, Michniacki T, Luxford J, Josephi-Taylor S, Roberts P, Meisner J Am J Med Genet A IF: 1.7 2026-08-00
Phosphorylations of serines 21/9 in glycogen synthase kinase 3α/β are dispensable for V600EBRAF-driven premalignant tumour development in the mouse intestine.
Farahmand P, Rzasa P, Green C, Hey F, Giblett S, Jin H, West K, Sylvius NB, Pritchard CA, Rufini A PLoS One IF: 2.6 None
Postmortem genetic testing in sudden death: clinical and medico-legal implications.
Sabater-Molina M, Nicolas Rocamora E, Munteanu S, Fuentes Bermejo MD, Osuna E, Pérez-Cárceles MD, Pastor Quirante F, Gimeno Blanes JR, Hernández Del Rincón JP Int J Legal Med IF: 2.6 2026-09-00
Comprehensive bioinformatics analysis and clinical validation of PPP1R13L in rectal adenocarcinoma.
Wang Q, Wang YK, Zhang P, Liu WK BMC Cancer IF: 3.288 2026-02-06
An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy.
Jordan E, Grover P, Parker P, Cowan J, Asatryan B, Ai T, Berthold A, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, James CA, Johnson R, Judge DP, Jurgens S, Lahrouchi N, Lumbers T, Mazzarotto F, Medeiros Domingo A, Murray B, Peters S, Pilichou K, Protonotarios A, van Spaendonck-Zwarts K, Syrris P, Wang J, Walsh R, Ware JS, Hershberger RE Circulation IF: 41.3 2026-09-08
Homozygous PPP1R13L Mutation Associated with Dilated Cardiomyopathy in a 1-Year-Old Child.
Sorescu AM, Ghiță CIV, Duică G, Nicolescu A, Cinteză EE, Adorisio R, Amodeo A, Francalanci P, Brancaccio G, Ingrasciotta G, Mencarelli E, Coman OA Life (Basel) 2026-07-24
Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature.
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A Int J Mol Sci IF: 3.226 2026-08-04
Association of chromosome 19 to lung cancer genotypes and phenotypes.
Wang Xiangdong, Zhang Yong, Nilsson Carol L, Berven Frode S, Andrén Per E, Carlsohn Elisabet, Horvatovich Peter, Malm Johan, Fuentes Manuel, Végvári Ákos, Welinder Charlotte, Fehniger Thomas E, Rezeli Melinda, Edula Goutham, Hober Sophia, Nishimura Toshihide, Marko-Varga György Cancer Metastasis Rev IF: 12.7 2016-10-31
Genetic Polymorphisms in XRCC1, CD3EAP, PPP1R13L, XPB, XPC, and XPF and the Risk of Chronic Benzene Poisoning in a Chinese Occupational Population.
Xue Ping, Gao Lin, Xiao Sha, Zhang Guopei, Xiao Mingyang, Zhang Qianye, Zheng Xiao, Cai Yuan, Jin Cuihong, Yang Jinghua, Wu Shengwen, Lu Xiaobo PLoS One IF: 2.6 2016-06-26

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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