Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
199221
Gene name Gene Name - the full gene name approved by the HGNC.
DAZ interacting zinc finger protein 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DZIP1L
Synonyms (NCBI Gene) Gene synonyms aliases
DZIP2, PKD5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PKD5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs555349004 G>A Pathogenic Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1135402754 C>G Pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1135402755 G>A Pathogenic Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1135402756 CT>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023219 hsa-miR-122-5p Microarray 19296470
MIRT620080 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT620078 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT620077 hsa-miR-627-3p HITS-CLIP 23824327
MIRT647466 hsa-miR-6819-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 27107012, 28530676, 29892012, 31515488, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005814 Component Centriole IDA 28530676
GO:0005814 Component Centriole IDA 19852954
GO:0005930 Component Axoneme IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617570 26551 ENSG00000158163
Protein
UniProt ID Q8IYY4
Protein name Cilium assembly protein DZIP1L (DAZ-interacting zinc finger protein 1-like)
Protein function Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676). {ECO:0000269|PubMed:19852954, ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13815 Dzip-like_N 24 144 Iguana/Dzip1-like DAZ-interacting protein N-terminal Family
Sequence
MQSPAATAEGLSGPLFGAYTFPTFKFQPRHDSMDWRRISTLDVDRVARELDVATLQENIA
GITFCNLDREVCSRCGQPVDPALLKVLRLAQLIIEYLLHCQDCLSASVAQLEARLQTSLG
QQQRGQQELGRQADELKGVREESR
RRRKMISTLQQLLMQTGTHSYHTCHLCDKTFMNATF
LRGHIQRRHAGVAEGGKQKKQEQPVEEVLEELRAKLKWTQGELEAQREAERQRQLQEAEL
IHQREIEAKKEFDKWKEQEWTKLYGEIDKLKKLFWDEFKNVAKQNSTLEEKLRALQSHSV
MESKLGSLRDEESEEWLRQARELQALREKTEIQKTEWKRKVKELHEEHMAEKKELQEENQ
RLQASLSQDQKKAAAQSQCQISTLRAQLQEQARIIASQEEMIQSLSLRKVEGIHKVPKAV
DTEEDSPEEEMEDSQDEQHKVLAALRRNPTLLKHFRPILEDTLEEKLESMGIRKDAKGIS
IQTLRHLESLLRVQREQKARKFSEFLSLRGKLVKEVTSRAKERQENGAVVSQPDGQPSVK
SQQSTLVTREAQPKTRTLQVALPSTPAEPPPPTRQSHGSHGSSLTQVSAPAPRPGLHGPS
STPPSSGPGMSTPPFSSEEDSEGDRVQRVSLQPPKVPSRMVPRPKDDWDWSDTETSEENA
QPPGQGSGTLVQSMVKNLEKQLEAPAKKPAGGVSLFFMPNAGPQRAATPGRKPQLSEDES
DLEISSLEDLPLDLDQREKPKPLSRSKLPEKFGTGPQSSGQPRVPAW
Sequence length 767
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Kidney disease Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Polycystic kidney disease Polycystic Kidney Diseases, Autosomal Recessive Polycystic Kidney Disease, POLYCYSTIC KIDNEY DISEASE 5, Autosomal recessive polycystic kidney disease rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096
View all (740 more)
28530676
Renal insufficiency Renal Insufficiency rs1596536873
Associations from Text Mining
Disease Name Relationship Type References
Glioma Associate 34482648
Polycystic Kidney Autosomal Recessive Associate 35211789
Polycystic Kidney Diseases Associate 35211789