例如:"NBL1", "4681", "drought"
收藏
9419 CRIPT

9419

CRIPT

CXXC repeat containing interactor of PDZ3 domain

protein-coding

Homo sapiens

基因描述

Type Description
Definition CXXC repeat containing interactor of PDZ3 domain

研究结论

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

名称对应

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

全选

{{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.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员