Type | Description |
---|---|
Definition | DAZ interacting zinc finger protein 1 like |
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 |
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
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
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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}} - |
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