AMER1 (APC membrane recruitment protein 1)

基因基本信息

基因基本信息

symbol:
AMER1
locus group:
protein-coding gene
location:
Xq11.2
gene_family:
alias symbol:
RP11-403E24.2|FLJ39827|WTX
alias name:
Wilms Tumor on the X|adenomatous...
entrez id:
139285
ensembl gene id:
ENSG00000184675
ucsc gene id:
uc004dvo.3
refseq accession:
NM_152424
hgnc_id:
HGNC:26837
approved reserved:
2006-07-11

基因染色体位置

基因染色体位置

Xq11.2

基因简述

基因简述

AMER1（也称为WTX或 FAM123B）是一个位于X染色体上的基因，属于FAM123基因家族。它编码的蛋白质在Wnt信号通路中发挥重要作用，主要作为β-catenin的负调控因子，通过促进β-catenin的降解来抑制Wnt信号通路的过度激活。AMER1蛋白在胚胎发育、细胞增殖和分化过程中起关键作用，尤其在肾脏发育中表现突出。该基因的突变与多种疾病相关，最著名的是Wilms瘤（一种儿童肾脏肿瘤），其中AMER1的功能缺失突变会导致Wnt信号通路异常激活，促进肿瘤发生。此外，AMER1突变还与骨硬化症（osteopathia striata with cranial sclerosis, OSCS）有关，这是一种以骨骼异常和颅骨硬化为特征的遗传病。AMER1的过表达通常会导致Wnt信号通路过度抑制，可能影响细胞增殖和组织再生，而表达降低则可能导致Wnt信号通路过度激活，促进肿瘤发生或发育异常。FAM123基因家族的成员通常参与信号转导和细胞周期调控，具有相似的蛋白质结构域，如多个核定位信号和与β-catenin相互作用的区域。AMER1在多种组织中表达，包括肾脏、骨骼和神经系统，其功能异常可能影响这些组织的正常发育和稳态维持。研究还表明，AMER1可能与其他癌症如结直肠癌和肝癌的发生有关，突显其在细胞增殖和肿瘤抑制中的广泛作用。

中文English

由该基因编码的蛋白质由肾母??细胞瘤蛋白上调trancriptional激活，并与其它许多蛋白质??，包括CTNNB1，APC，AXIN1和AXIN2相互作用。在该基因缺陷与颅硬化（OSCS）骨病芨的一个原因。 [由RefSeq的，2010年5月提供]

OMIM数据库中对AMER1基因的介绍     Wikipedia数据库中对AMER1基因的介绍

基因序列

基因序列

AMER1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
1METQKDEAAQ AKGAAASGST REQTAEKGAK NKAAEATEGP
41TSEPSSSGPG RLKKTAMKLF GGKKGICTLP SFFGGGRSKG
81 SGKGSSKKG LSKSKTHDGL SEAAHGPEDV VSEGTGFSLP
121LPELPCQFPS SQSAHGALET GSRCKTSVAG ATEKAVAEKF
161P SMPKPKKG LKGFFSSIRR HRKSKVTGAE QSEPGAKGPE
201RVRARPHEHV SSAPQVPCFE ETFQAPRKEN ANPQDAPGPK
241VS PTPEPSP PATEKMACKD PEKPMEACAS AHVQPKPAPE
281ASSLEEPHSP ETGEKVVAGE VNPPNGPVGD PLSLLFGDVT
321SLK SFDSLT GCGDIIAEQD MDSMTDSMAS GGQRANRDGT
361KRSSCLVTYQ GGGEEMALPD DDDEEEEEEE EVELEEEEEE
401VKEE EEDDD LEYLWETAQM YPRPNMNLGY HPTTSPGHHG
441YMLLDPVRSY PGLAPGELLT PQSDQQESAP NSDEGYYDST
481TPGFE DDSG EALGLVRRDC LPRDSYSGDA LYEFYEPDDS
521LENSPPGDDC LYDLHGRSSE MFDPFLNFEP FLSSRPPGAM
561ETEEER LVT IQKQLLYWEL RREQLEAQEA RAREAHAREA
601HAREAYTREA YGREAYAREA HTWEAHGREA RTREAQAREV
641RCRETQV RE TQARQEKPVL EYQMRPLGPS VMGLAAGVSG
681TSQISHRGIT SAFPTTASSE PDWRDFRPLE KRYEGTCSKK
721DQSTCLMQ L FQSDAMFEPD MQEANFGGSP RRAYPTYSPP
761EDPEEEEVEK EGNATVSFSQ ALVEFTSNGN LFSSMSCSSD
801SDSSFTQNL PELPPMVTFD IADVERDGEG KCEENPEFHN
841DEDLAASLEA FELGYYHKHA FNNYHSRFYQ GLPWGVSSLP
881RYLGLPGLHP RPPPAAMAL NRRSRSLDTA ETLEMELSNS
921HLVQGYLESD ELQAQQEDSD EEDEEEEEGE WSRDSPLSLY
961TEPPGAYDWP A WAPCPLPV GPGPAWISPN QLDRPSSQSP
1001YRQATCCIPP MTMSISLSVP ESRAPGESGP QLARPSHLHL
1041PMGPCYNLQP QA SQSMRAR PRDVLLPVDE PSCSSSSGGF
1081SPSPLPQAKP VGITHGIPQL PRVRPEHPQP QPTHYGPSSL
1121DLSKERAEQG ASL ATSYSS TAMNGNLAK
结构预测来自 AlphaFold DB（UniProt: Q5JTC6），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

AMER1基因的碱基突变：           仅显示部分snp
rs781777369       rs781703972       rs781499703       rs781633353       rs781376367       rs781369600       rs781242326       rs781204966       rs781115849       rs781151020       rs781048276       rs780987660       rs781019812       rs780979357       rs780747344       rs780779666       rs780867419      

基因表达

基因表达

AMER1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
AATAACCGGGCTAGGAACC
59
TGTTTGTTCACGGGTACTC
58
GAATGCCACTGTGAGTTTCTC
60
ACCTGGGCATCTTATGCTG
60
GCCACTGTGAGTTTCTCAC
59
AGTACCTGGGCATCTTATGC
60
AATAACCGGGCTAGGAACC
59
GTTTGTTCACGGGTACTCC
59
ATGCCACTGTGAGTTTCTC
58
TACCTGGGCATCTTATGCT
58
AATAACCGGGCTAGGAACC
59
TTTGTTCACGGGTACTCCC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

AMER1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

AMER1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005515
Q5JTC6 (UniProtKB)
IPI
GO:0005546
Q5JTC6 (UniProtKB)
IMP
GO:0005546
Q5JTC6 (UniProtKB)
IDA
GO:0005634
Q5JTC6 (UniProtKB)
IDA
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005829
Q5JTC6 (UniProtKB)
TAS
GO:0005886
Q5JTC6 (UniProtKB)
IDA
GO:0005886
Q5JTC6 (UniProtKB)
IDA
GO:0005886
Q5JTC6 (UniProtKB)
IDA
GO:0005886
Q5JTC6 (UniProtKB)
IDA
GO:0008013
Q5JTC6 (UniProtKB)
IPI
GO:0008013
Q5JTC6 (UniProtKB)
IDA
GO:0016055
Q5JTC6 (UniProtKB)
TAS
GO:0031398
Q5JTC6 (UniProtKB)
IDA
GO:0043161
Q5JTC6 (UniProtKB)
TAS
GO:0043231
Q5JTC6 (UniProtKB)
IDA
GO:0048856
Q5JTC6 (UniProtKB)
IBA
GO:0060348
Q5JTC6 (UniProtKB)
IEA
GO:0060612
Q5JTC6 (UniProtKB)
IEA
GO:0060828
Q5JTC6 (UniProtKB)
IMP
GO:0072161
Q5JTC6 (UniProtKB)
IEA
GO:0090090
Q5JTC6 (UniProtKB)
IGI
GO:0090090
Q5JTC6 (UniProtKB)
IMP
GO:0090263
Q5JTC6 (UniProtKB)
IMP
GO:1903364
Q5JTC6 (UniProtKB)
IDA
GO:1904713
Q5JTC6 (UniProtKB)
IPI
GO:1904885
Q5JTC6 (UniProtKB)
TAS
GO:1904886
Q5JTC6 (UniProtKB)
TAS

基因相关microRNA

基因相关microRNA

可能调控 AMER1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
Reactome
加载中…
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
Osteopathia striata cranial sclerosis 0.441628651 7 5 BeFree_CLINVAR_CTD_human_MGD_ORPHANET
Nephroblastoma 0.00842463 22 0 BeFree_LHGDN
Leukemia, Myelocytic, Acute 0.00272435 1 0 LHGDN
Pancreatic Neoplasm 0.002367032 1 0 GAD
Carcinogenesis 0.001357209 5 0 BeFree
Adenomatous Polyposis Coli 0.000814326 3 0 BeFree
Hepatoblastoma 0.000542884 2 0 BeFree
Bone Diseases, Developmental 0.000542884 2 0 BeFree
Malignant neoplasm of kidney 0.000542884 2 0 BeFree
Osteopathia striata 0.000542884 2 1 BeFree

基因相关文献

基因相关文献

Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature.
Yakovlev AA, Gaidar EV, Suspitsin EN, Korzun PR, Kostik MM World J Orthop IF: 2.3 2026-02-18
Systematic Review: Prognostic Molecular Biomarkers in Wilms Tumors.
Oller A, Kemmeren P, Perotti D, van Tinteren H, Verschuur A, Spreafico F, Brok J, Furtwängler RCJ, Chowdhury T, Al-Saadi R, Vujanic GM, Treece AL, Drost J, van Grotel M, Mullen EA, Evageliou NF, Graf N, Hong AL, Gessler M, Geller JI, van den Heuvel-Eibrink MM JCO Precis Oncol 2026-05-00
Tumoral AMER1 driven dopamine synthesis triggers cancer cell pyroptosis and licenses CD8+ T cell immunity in colorectal cancer.
Dang JL, Hu Q, Lu Y, Wang J, Li X, Chen Y, Zhao J, Liu Y, Wang J, Zang N, Zhou L, Zhong X, Li W, Zheng SG Cancer Lett IF: 11.8 2026-08-03
Artificial Intelligence-Enabled Analysis of WNT Pathway Dysregulation in Bevacizumab-Treated Early-Onset Colorectal Cancer.
Ruiz-Garcia E, Waldrup B, Carranza FG, Manjarrez S, Fernandez-Figueroa EA, Velazquez-Villarreal E Int J Mol Sci IF: 3.226 2026-07-11
[Analysis of clinical characteristics and genetic etiology of a child with Osteopathia striata with Cranial sclerosis due to variant of AMER1 gene].
Zhang H, Yin W, Wang Y, Chen B, Gao C, Liu L, Wang Y, Zhang X, Li L Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2025-09-10
Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.
Sanz-Pamplona Rebeca, Lopez-Doriga Adriana, Paré-Brunet Laia, Lázaro Kira, Bellido Fernando, Alonso M Henar, Aussó Susanna, Guinó Elisabet, Beltrán Sergi, Castro-Giner Francesc, Gut Marta, Sanjuan Xavier, Closa Adria, Cordero David, Morón-Duran Francisco D, Soriano Antonio, Salazar Ramón, Valle Laura, Moreno Victor Clin Cancer Res IF: 10.9 2016-08-01
Genetic and chromosomal alterations in Kenyan Wilms Tumor.
Lovvorn Harold N, Pierce Janene, Libes Jaime, Li Bingshan, Wei Qiang, Correa Hernan, Gouffon Julia, Clark Peter E, Axt Jason R, Hansen Erik, Newton Mark, O'Neill James A, Genes Chromosomes Cancer IF: 2.3 2016-06-13
Structures of the APC-ARM domain in complexes with discrete Amer1/WTX fragments reveal that it uses a consensus mode to recognize its binding partners.
Zhang Zhenyi, Akyildiz Senem, Xiao Yafei, Gai Zhongchao, An Ying, Behrens Jürgen, Wu Geng Cell Discov 2016-07-27
β-arrestin promotes Wnt-induced low density lipoprotein receptor-related protein 6 (Lrp6) phosphorylation via increased membrane recruitment of Amer1 protein.
Kríz Vítezslav, Pospíchalová Vendula, Masek Jan, Kilander Michaela Brita Christina, Slavík Josef, Tanneberger Kristina, Schulte Gunnar, Machala Miroslav, Kozubík Alois, Behrens Juergen, Bryja Vítezslav J Biol Chem IF: 4.1 2014-04-08

基因相关服务

基因相关服务

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基因相关评论

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