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199221 DZIP1L

199221

DZIP1L

DAZ interacting zinc finger protein 1 like

protein-coding

Homo sapiens

基因描述

Type Description
Definition DAZ interacting zinc finger protein 1 like

研究结论

Date Results Publications
2019-07-27 10:53:00 DZIP1L plays a role in the pathogenesis of autosomal recessive polycystic kidney disease through impact on the ciliary transition zone. 28736432
2017-10-07 11:44:00 Mutations in DZIP1L were characterized in patients with The ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. This is the first conclusive evidence that is not a homogeneous disorder and further establishes DZIP1L as a second gene involved in duanyu37KD pathogenesis. 28530676

名称对应

Type IDs
Synonymous DZIP2, PKD5
Gene
UniProtKB-ID: DZI1L_HUMAN
UniprotKB: Q8IYY4
UniParc: UPI0000161A66, UPI000013DF5C
EMBL: AC023049, BC033308, AK057406
Ensembl: ENSG00000158163
KO: hsa:199221
Nucleutide sequences
EMBL-CDS: AAH33308.1, BAB71474.1
Ensembl_TRS: ENST00000327532, ENST00000469243
Protein sequencees
Ensembl_PRO: ENSP00000332148, ENSP00000419486
RefSeq: XP_011510830.1, XP_011510823.1, XP_005247257.1, XP_011510824.1, NP_001164009.1, NP_775814.2, XP_016861330.1, XP_006713590.1, XP_011510820.1, XP_011510822.1, XP_016861331.1, XP_006713589.1, XP_005247255.1, XP_011510826.1
Others
UniRef100: UniRef100_Q8IYY4
UniRef90: UniRef90_Q8IYY4
UniRef50: UniRef50_Q8IYY4
UniGene: Hs.351403
CCDS: CCDS54645.1, CCDS3096.1

全选

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研究热度

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