Entity Details

Primary name DZIP1L
Entity type gene
Source Source Link

Details

PrimaryID199221
RefseqGene
SymbolDZIP1L
NameDAZ interacting zinc finger protein 1 like
Chromosome3
Location3q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-04-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDZI1L_HUMAN

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

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.