Type | Description |
---|---|
Definition | adaptor related protein complex 1 subunit sigma 1 |
Date | Results | Publications |
---|---|---|
2020-09-26 13:06:00 | AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. | 32306098 |
2013-04-27 10:38:00 | We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins | 23423674 |
2010-01-21 00:00:00 | A splice mutation in AP1S1 was found in four families with a neurocutaneous syndrome. | 19057675 |
2008-05-07 12:00:00 | Isolation and description of the rat and mouse genes. | 2040623 |
Type | IDs |
---|---|
Synonymous | AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A |
Gene |
UniProtKB-ID:
AP1S1_HUMAN,
A0A024QYT6_HUMAN
UniprotKB:
P61966,
A0A024QYT6
UniParc:
UPI0000027F3C,
UPI000002A2E6
EMBL:
AB015319,
AC004876,
CH471197,
AK312151,
BT006779,
BC003561
Ensembl:
ENSG00000106367
KO:
hsa:1174
|
Nucleutide sequences |
EMBL-CDS:
AAH03561.1,
AAD45829.1,
AAP35425.1,
BAG35085.1,
BAA33391.1,
EAW50199.1,
EAW50200.1
Gene_ORFName:
hCG_17348
Ensembl_TRS:
ENST00000337619,
ENST00000443943
|
Protein sequencees |
Ensembl_PRO:
ENSP00000410780,
ENSP00000336666
RefSeq:
NP_001274.1
|
Others |
UniRef100:
UniRef100_P61966
UniRef90:
UniRef90_P61966
UniRef50:
UniRef50_P61966
UniGene:
Hs.489365
CCDS:
CCDS47669.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
暂无数据
Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
---|---|---|---|
32306098 |
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. Hum Genet Katharina M C Klee , Andreas R Janecke , Hasret A Civan , Štefan Rosipal , Peter Heinz-Erian , Lukas A Huber , Thomas Müller , Georg F Vogel |
2020-10-01 | - |
32416067 |
Mol Cell Shaokun Shu , Hua-Jun Wu , Jennifer Y Ge , Rhamy Zeid , Isaac S Harris , Bojana JovanoviÄ , Katherine Murphy , Binbin Wang , Xintao Qiu , Jennifer E Endress , Jaime Reyes , Klothilda Lim , Alba Font-Tello , Sudeepa Syamala , Tengfei Xiao , Chandra Sekhar Reddy Chilamakuri , Evangelia K Papachristou , Clive D'Santos , Jayati Anand , Kunihiko Hinohara , Wei Li , Thomas O McDonald , Adrienne Luoma , Rebecca J Modiste , Quang-De Nguyen , Brittany Michel , Paloma Cejas , Cigall Kadoch , Jacob D Jaffe , Kai W Wucherpfennig , Jun Qi , X Shirley Liu , Henry Long , Myles Brown , Jason S Carroll , Joan S Brugge , James Bradner , Franziska Michor , Kornelia Polyak |
2020-06-18 | - |
32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
31536960 |
iScience Mohamed Taha Moutaoufik , Ramy Malty , Shahreen Amin , Qingzhou Zhang , Sadhna Phanse , Alla Gagarinova , Mara Zilocchi , Larissa Hoell , Zoran Minic , Maria Gagarinova , Hiroyuki Aoki , Jocelyn Stockwell , Matthew Jessulat , Florian Goebels , Kirsten Broderick , Nichollas E Scott , James Vlasblom , Gabriel Musso , Bhanu Prasad , Eleonora Lamantea , Barbara Garavaglia , Alex Rajput , Kei Murayama , Yasushi Okazaki , Leonard J Foster , Gary D Bader , Francisco S Cayabyab , Mohan Babu |
2019-09-27 | - |
30463901 |
BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression. Genes Dev. Lei Yu , Natee Jearawiriyapaisarn , Mary P Lee , Tomonori Hosoya , Qingqing Wu , Greggory Myers , Kim-Chew Lim , Ryo Kurita , Yukio Nakamura , Anne B Vojtek , Jean-François Rual , James Douglas Engel |
2018-12-01 | - |
29117863 |
BMC Biol Nila Roy Choudhury , Gregory Heikel , Maryia Trubitsyna , Peter Kubik , Jakub Stanislaw Nowak , Shaun Webb , Sander Granneman , Christos Spanos , Juri Rappsilber , Alfredo Castello , Gracjan Michlewski |
2017-11-08 | - |
28611215 |
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown |
2017-06-27 | - |
28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
26598620 |
PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. J. Cell Biol. Anna E Dart , Gary M Box , William Court , Madeline E Gale , John P Brown , Sarah E Pinder , Suzanne A Eccles , Claire M Wells |
2015-11-23 |
PAK4,
NPM3,
SIVA1,
ATP5L,
DMRT2,
CTCF,
SLC26A1,
ME3,
RALBP1,
RASSF1,
NXPH4,
IL17F,
TMEM106A,
CHRNA4,
FCHO2,
ARHGEF25,
AP1S1,
ZFAND2B,
HINT3,
SSC4D,
RAB40A,
LAYN,
ZNF569,
BNIPL,
DACT2,
GALNTL5,
RHOV,
DNM2,
EIF4B,
ERF,
MRAS,
SEPT6,
FKBP15,
ESYT1,
LARS2,
ELP5,
IFFO1,
POT1,
ACAD8,
HCAR1,
TEKT2,
PDLIM3,
GLI3,
SEC14L4,
TRIM59,
MRPL15,
BRF1,
NRBF2,
ERO1A,
HIST1H1A,
ANXA4,
ANXA6,
BRINP3,
ID2,
CDKL4,
HSD17B13,
TMEM255B,
CFAP100,
KAAG1,
KLRC3,
LMO7,
VWA5A,
C8orf59,
RPS17P16,
ARNTL,
LYL1,
MARCKS,
MOS,
SNU13,
PAK1,
ZNF117,
ANGPT4,
PGK1,
PLEK,
ATP6AP1,
P4HTM,
C14orf119,
PRB1,
DOK4,
ZFP64,
ZKSCAN7,
LANCL2,
PCDHGA4,
PSMA4,
SEMA3G,
UTP3,
KIAA1191,
AS3MT,
USP37,
PXN,
RHOU,
RAD51D,
RPS15A,
BDNF,
S100A4,
OXCT2,
CLEC7A,
SKIV2L,
ZNF747
|
26496610 |
A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , Jürgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , Jörg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann |
2015-10-22 |
Cep85l,
Rcc1,
Zbtb48,
Bsdc1,
Kifc1,
Ccp110,
Ints4,
Slc6a8,
Cenpi,
Nup107,
Xpo1,
Fbxw11,
Tubg1,
Csnk1d,
Bap1,
Ptpn23,
Tecpr2,
Slain1,
Ankrd28,
Prkaa1,
Espl1,
Gbf1,
Cdc20,
Cenpf,
Trip11,
Mbd5,
Kif22,
Dut,
Srsf1,
Actb,
Spred2,
Akt2,
Mta1,
Tgs1,
Pip4k2c,
Ankfy1,
Apc,
Ar,
Rhoa,
Atp2a2,
Atp5a1,
Atp7a,
Cep131,
Bach1,
Bcl7c,
Bmpr1a,
Brca1,
Bub1,
Bub1b,
C1qbp,
Anxa2,
Calu,
Cbx1,
Cbx4,
Cct2,
Cct3,
Cct4,
Cct7,
Cct8,
Cd2ap,
Cdk1,
Cdc37,
Cdh1,
Chek1,
Cit,
Copa,
Crebbp,
Cry1,
Csk,
Smc3,
Dctn1,
Ddb1,
Cdk2ap1,
Mapre1,
Ect2,
Eef1a1,
Eif3a,
Mark2,
Evpl,
Ewsr1,
Wdr5,
Dclre1b,
Fbl,
Fgfr1,
Flot1,
Flot2,
B4galt1,
Gnb1,
Gspt1,
Hdac6,
Herc2,
Hsf1,
Hsph1,
Elavl1,
Id2,
Cyr61,
Cep250,
Insr,
Eif3e
|
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