Entity Details

Primary name DZI1L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IYY4
EntryNameDZI1L_HUMAN
FullNameZinc finger protein DZIP1L
TaxID9606
Evidenceevidence at protein level
Length767
SequenceStatuscomplete
DateCreated2008-04-29
DateModified2021-06-02

Ontological Relatives

GenesDZIP1L

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005814 centriole
GO:0005930 axoneme
GO:0007224 smoothened signaling pathway
GO:0021532 neural tube patterning
GO:0032880 regulation of protein localization
GO:0033504 floor plate development
GO:0036064 ciliary basal body
GO:0046872 metal ion binding
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium
GO:1905349 ciliary transition zone assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR032714 Zinc finger protein DZIP1, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
617610 OMIMPolycystic kidney disease 5 (PKD5)A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.