Type | Description |
---|---|
Definition | CXXC repeat containing interactor of PDZ3 domain |
Date | Results | Publications |
---|---|---|
2020-04-04 12:55:00 | The PSD-95 GK domain binds to Gnb5, and this interaction is triggered by CRIPT-derived PDZ3 ligands binding to the third PDZ domain of PSD-95, unraveling a hierarchical binding mechanism of PSD-95 complex formation. | 30864948 |
2017-10-28 10:53:00 | we describe a third patient with defects in the CRIPT gene responsible for short stature, microcephaly, and distinctive facies [MIM:615789]. The clinical presentation of our patient expands the phenotype of CRIPT mutations to include postnatal growth delay, distinct from primordial dwarfism. | 27250922 |
2010-06-30 22:07:00 | Observational study of gene-disease association. (HuGE Navigator) | 20398908 |
2009-01-11 21:30:00 | Observational study of gene-disease association. (HuGE Navigator) | 19086053 |
Type | IDs |
---|---|
Synonymous | HSPC139, SSMDF |
Gene |
UniProtKB-ID:
CRIPT_HUMAN
UniprotKB:
Q9P021
UniParc:
UPI000006F4D2
EMBL:
BC018653,
CH471053,
AF161488,
BC006980,
AC018682,
AK291298
Ensembl:
ENSG00000119878
KO:
hsa:9419
|
Nucleutide sequences |
EMBL-CDS:
BAF83987.1,
EAX00239.1,
AAH06980.1,
AAY14836.1,
AAH18653.1,
AAF29103.1
Gene_ORFName:
HSPC139
Ensembl_TRS:
ENST00000238892
|
Protein sequencees |
Ensembl_PRO:
ENSP00000238892
RefSeq:
NP_054890.1
|
Others |
UniRef100:
UniRef100_Q9P021
UniRef90:
UniRef90_Q9P021
UniRef50:
UniRef50_Q9P021
UniGene:
Hs.133998
CCDS:
CCDS1829.1
|
{{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 |
---|---|---|---|
32814053 |
Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker |
2020-08-18 | - |
30864948 |
Intramolecular domain dynamics regulate synaptic MAGUK protein interactions. Elife Nils Rademacher , Benno Kuropka , Stella-Amrei Kunde , Markus C Wahl , Christian Freund , Sarah A Shoichet |
2019-03-13 | - |
30196744 |
ATG5 is required for B cell polarization and presentation of particulate antigens. Autophagy Florent Arbogast , Johan Arnold , Philippe Hammann , Lauriane Kuhn , Johana Chicher , Diane Murera , Justine Weishaar , Sylviane Muller , Jean-Daniel Fauny , Frédéric Gros |
2019-02-01 | - |
28986522 |
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Nat Commun Giulia Antoniali , Fabrizio Serra , Lisa Lirussi , Mikiei Tanaka , Chiara D'Ambrosio , Shiheng Zhang , Slobodanka Radovic , Emiliano Dalla , Yari Ciani , Andrea Scaloni , Mengxia Li , Silvano Piazza , Gianluca Tell |
2017-10-06 | - |
27250922 |
Am J Med Genet A Magalie S Leduc , Zhiyv Niu , Weimin Bi , Wenmiao Zhu , Irene Miloslavskaya , Theodore Chiang , Haley Streff , John R Seavitt , Stephen A Murray , Christine Eng , Audrey Chan , Yaping Yang , Seema R Lalani |
2016-08-01 | - |
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
|
26344197 |
Panorama of ancient metazoan macromolecular complexes. Nature Cuihong Wan , Blake Borgeson , Sadhna Phanse , Fan Tu , Kevin Drew , Greg Clark , Xuejian Xiong , Olga Kagan , Julian Kwan , Alexandr Bezginov , Kyle Chessman , Swati Pal , Graham Cromar , Ophelia Papoulas , Zuyao Ni , Daniel R Boutz , Snejana Stoilova , Pierre C Havugimana , Xinghua Guo , Ramy H Malty , Mihail Sarov , Jack Greenblatt , Mohan Babu , W Brent Derry , Elisabeth R Tillier , John B Wallingford , John Parkinson , Edward M Marcotte , Andrew Emili |
2015-09-17 |
AKT3,
MED6,
ABI1,
GNPDA1,
SRA1,
TDRD15,
HMGN1P30,
PDCD6IP,
PDCD6,
MED16,
ADA,
CHAF1A,
TOM1,
RANBP9,
SMC4,
ARPC4-TTLL3,
RBM14-RBM4,
RNF103-CHMP3,
CHURC1-FNTB,
AP1M2,
ISY1-RAB43,
UBA2,
SAE1,
FARSB,
DNM1L,
ABCF2,
COX17,
SCAMP2,
SCAMP3,
DPP3,
SNUPN,
HUWE1,
TSSC4,
ATP9A,
PQBP1,
COL4A3BP,
PTGES3L-AARSD1,
ARPC5,
ARPC4,
ARPC3,
ARPC1B,
ACTR3,
ACTR2,
NUBP2,
PPIF,
LOC101060521,
ARPC2,
RAD50,
ACTR1B,
ACTR1A,
ADAM8,
LRPPRC,
PDIA6,
TRAP1,
BCAP31,
NAMPT,
RBM12,
G3BP1,
ABI2,
CEBPZ,
TRIM28,
AASS,
ATP6AP2,
WASF2,
SLC25A13,
CDK2,
RBM7,
ALYREF,
TXNDC9,
LOC101929876,
PSME3,
MPHOSPH10,
MPHOSPH6,
CDK5,
NUTF2,
EIF1,
DDX39A,
PSMD14,
CDK7,
PLIN3,
HNRNPR,
MRPS31,
CDK8,
RABEPK,
RIDA,
SRRM1,
CDK9,
STAM2,
SF3B4,
ZMPSTE24,
AKAP8,
STUB1,
STAG1,
UBE4B,
PRSS16,
SIGMAR1,
BET1,
CWC27,
SAP18
|
25281560 |
J Proteomics Jean-Philippe Lambert , Monika Tucholska , Christopher Go , James D R Knight , Anne-Claude Gingras |
2015-04-06 |
MED6,
GNPDA1,
PDCD6,
MED16,
CHAF1A,
PARP2,
RANBP9,
HUWE1,
RAD50,
KIF20A,
ACTR1A,
PDIA6,
TXNDC9,
PSME3,
MPHOSPH9,
FLOT1,
PLIN3,
DCAF7,
CDK8,
SRRM1,
NPM3,
NDC80,
RBM14,
PIBF1,
HMGN4,
ATP5H,
EIF3M,
CAP2,
NCOA2,
KAT5,
NOP56,
RNASEH2A,
DCTN2,
CENPC,
PAICS,
PDLIM5,
SPAG5,
TAF6L,
RAD51AP1,
IGF2BP3,
RAI1,
SDCCAG3,
SRCAP,
PGRMC1,
RAB10,
BRD8,
SUGT1,
EHMT2,
RNPS1,
AFG3L2,
MSL3,
SEC61B,
TMED2,
ACOT2,
KIF2C,
TOPBP1,
FGFR1OP,
KIF3A,
KAT7,
NUDT5,
SUPT16H,
DCTN3,
SGF29,
MED8,
CDCA5,
ECD,
PHB2,
PDAP1,
EXOSC8,
ZNF257,
PWWP2A,
FLYWCH2,
HAUS1,
TBCB,
DNTTIP1,
CNTROB,
SSX2IP,
LSM12,
C17orf49,
TRAPPC5,
CNP,
CHMP4B,
CP,
CREBBP,
DYNLL2,
CSNK2A2,
CDAN1,
KIF18B,
EME1,
SPC24,
CTBP1,
CTBP2,
ZNF362,
SGO2,
SGO1,
SPICE1,
ZMAT2,
CYLD,
AMOT
|
24389050 |
Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. Ranad Shaheen , Eissa Faqeih , Shinu Ansari , Ghada Abdel-Salam , Zuhair N Al-Hassnan , Tarfa Al-Shidi , Rana Alomar , Sameera Sogaty , Fowzan S Alkuraya |
2014-02-01 |
Dna2,
XRCC4,
CRIPT
|
24376456 |
Front Genet Jeannette Simino , Yun Ju Sung , Rezart Kume , Karen Schwander , D C Rao |
2013-01-01 | - |
排名 | 科研单位 | 文献 |
---|---|---|
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---|---|---|
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