Type | Description |
---|---|
Definition | clusterin associated protein 1 |
Date | Results | Publications |
---|---|---|
2017-11-18 12:25:00 | Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). he genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport. | 28679688 |
2017-09-16 13:07:00 | Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene | 26820066 |
2010-01-21 00:00:00 | inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer | 15480429 |
2010-01-21 00:00:00 | CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers | 17203229 |
Type | IDs |
---|---|
Synonymous | CFAP22, FAP22, IFT38 |
Gene |
UniProtKB-ID:
CLUA1_HUMAN,
J3KNW5_HUMAN
UniprotKB:
Q96AJ1,
J3KNW5
UniParc:
UPI00001FF865,
UPI0000071C3D,
UPI0000D4D4FD
EMBL:
BC017070,
AC004494,
AK023319,
AK023359,
AB089691,
AB014543,
AC004224
Ensembl:
ENSG00000103351
KO:
hsa:23059
|
Nucleutide sequences |
EMBL-CDS:
BAB14523.1,
AAH17070.3,
BAA31618.1,
BAD44779.1,
BAB14542.1
Ensembl_TRS:
ENST00000576634,
ENST00000572600,
ENST00000341633
|
Protein sequencees |
Ensembl_PRO:
ENSP00000460889,
ENSP00000460850,
ENSP00000344392
RefSeq:
NP_001317383.1,
XP_006720930.1,
NP_055856.1,
XP_016878562.1,
NP_079069.1
|
Others |
UniRef100:
UniRef100_J3KNW5,
UniRef100_Q96AJ1
UniRef90:
UniRef90_Q96AJ1
UniRef50:
UniRef50_Q96AJ1
UniGene:
Hs.155995
CCDS:
CCDS32381.1,
CCDS45398.1
|
{{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 |
---|---|---|---|
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 | - |
31515488 |
Nat Commun Robert Fragoza , Jishnu Das , Shayne D Wierbowski , Jin Liang , Tina N Tran , Siqi Liang , Juan F Beltran , Christen A Rivera-Erick , Kaixiong Ye , Ting-Yi Wang , Li Yao , Matthew Mort , Peter D Stenson , David N Cooper , Xiaomu Wei , Alon Keinan , John C Schimenti , Andrew G Clark , Haiyuan Yu |
2019-09-12 | - |
29615496 |
CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement. Mol Cell Proteomics Tina Beyer , Sylvia Bolz , Katrin Junger , Nicola Horn , Muhammad Moniruzzaman , Yasmin Wissinger , Marius Ueffing , Karsten Boldt |
2018-07-01 | - |
28927264 |
Mol Cells Namgyu Lee , Dae-Kyum Kim , Seung Hyun Han , Hye Guk Ryu , Sung Jin Park , Kyong-Tai Kim , Kwan Yong Choi |
2017-09-30 | - |
28679688 |
Cold Spring Harb Mol Case Stud Jennifer J Johnston , Chanjae Lee , Ingrid M Wentzensen , Melissa A Parisi , Molly M Crenshaw , Julie C Sapp , Jeffrey M Gross , John B Wallingford , Leslie G Biesecker |
2017-07-01 | - |
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 | - |
26820066 |
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med Zachry T Soens , Yuanyuan Li , Li Zhao , Aiden Eblimit , Rachayata Dharmat , Yumei Li , Yiyun Chen , Mohammed Naqeeb , Norma Fajardo , Irma Lopez , Zhaoxia Sun , Robert K Koenekoop , Rui Chen |
2016-10-01 | - |
27173435 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , François Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group |
2016-05-13 | - |
26638075 |
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell Gagan D Gupta , Ãtienne Coyaud , João Gonçalves , Bahareh A Mojarad , Yi Liu , Qianzhu Wu , Ladan Gheiratmand , David Comartin , Johnny M Tkach , Sally W T Cheung , Mikhail Bashkurov , Monica Hasegan , James D Knight , Zhen-Yuan Lin , Markus Schueler , Friedhelm Hildebrandt , Jason Moffat , Anne-Claude Gingras , Brian Raught , Laurence Pelletier |
2015-12-03 |
TANK,
SRA1,
LOC100129118,
TROAP,
PIGK,
WASH1,
DNAJB6,
LOC100506055,
TMEM35B,
OCLN,
LOC100507703,
ERVK3-1,
RBM14-RBM4,
COMMD3-BMI1,
UBA2,
SAE1,
ABCC5,
TIMM23B,
SCAMP2,
SCAMP3,
ARPC3,
ACTR3,
ACTR2,
NUBP2,
TSFM,
RAD50,
KIF20A,
PREB,
ACTR1B,
ACTR1A,
PDIA6,
BCAP31,
SUGP2,
CEBPZ,
ATP6AP2,
LPCAT3,
WASF2,
CDK2,
TENM1,
TXNDC9,
CDK4,
ALG3,
PRMT3,
PSME3,
MPHOSPH9,
CDK5,
TRIM13,
FLOT1,
PSMD14,
MFSD10,
STX6,
DCAF7,
STAM2,
ZMPSTE24,
STUB1,
SIGMAR1,
BET1,
DNAJA2,
PAK4,
KATNB1,
RTN3,
TNIP1,
EMC8,
CNPY2,
TFG,
TUBA1B,
TUBB4A,
TUBB4B,
NDRG1,
NDC80,
NSA2,
PGRMC2,
TUBGCP3,
SEC24B,
EMG1,
MCRS1,
TAB1,
BAIAP2,
PIBF1,
PPIH,
ZNHIT1,
PFDN6,
CLGN,
SLC25A17,
NXF1,
SEC23B,
SEC23A,
VAT1,
NCOA2,
HYOU1,
IPO8,
IPO7,
NEBL,
DCTN2,
PRDX4,
ARL6IP5,
AGPAT1,
RPP38,
CCT7
|
26389662 |
Nat. Cell Biol. Malavika Raman , Mikhail Sergeev , Maija Garnaas , John R Lydeard , Edward L Huttlin , Wolfram Goessling , Jagesh V Shah , J Wade Harper |
2015-10-01 |
myl7,
ubxn7,
ubxn10,
TIMM23,
ABCF2,
CDK4,
TOPORS,
TIMM17B,
STUB1,
UBE4B,
TUBB3,
UNC13B,
POLD3,
SEC24A,
PNPLA6,
TMED2,
ILVBL,
SLC27A4,
IFT27,
FAF1,
LACTB,
BTBD9,
KLHDC3,
UBXN10,
ADK,
UBXN2B,
CSNK1E,
CSNK1G3,
SLC25A10,
CSTF1,
TTC30B,
PPP4R2,
FAM91A1,
UBXN2A,
DSC1,
DSG1,
ELAVL2,
ERCC3,
ALDH1B1,
ABCB7,
ALDH9A1,
ALDH3A2,
KLHDC10,
UNC13A,
CLUAP1,
EMC1,
MYCBP2,
EPB41L3,
UBXN4,
FAF2,
VPS13A,
ABCF1,
UBR2,
GCAT,
TRAM1,
KLHDC2,
HSPBP1,
MTCH2,
YTHDF3,
KCTD13,
BRWD3,
UBXN7,
TRAF3IP1,
GCDH,
RANBP6,
ATP2C1,
HTRA2,
ACAD9,
IFT81,
SLC25A4,
GSK3B,
MSH6,
MYLPF,
PYCR2,
HLA-B,
HLA-C,
HMGB1,
MMAB,
HSPA2,
UBAC2,
IDE,
ACADM,
ACTBL2,
ACADSB,
ARAF,
STT3A,
JUN,
JUP,
KIFC1,
KPNA3,
MSH2,
MYO6,
NDUFS2,
ATP2B2,
ATP2B3,
NUP98,
ATP4A,
P4HB,
DERL2
|
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