Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	199221
Gene name	DAZ interacting zinc finger protein 1 like
Gene symbol	DZIP1L
Synonyms (NCBI Gene)	DZIP2PKD5
Chromosome	3
Chromosome location	3q22.3

Show/Hide all (4)

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

101

Show/Hide all (101)

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
MIRT647465	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT647463	hsa-miR-4530	HITS-CLIP	23824327
MIRT647464	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT647462	hsa-miR-1267	HITS-CLIP	23824327
MIRT647461	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT647459	hsa-miR-3182	HITS-CLIP	23824327
MIRT647460	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT647458	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT647457	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT647456	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620079	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620079	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
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
MIRT647465	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT647463	hsa-miR-4530	HITS-CLIP	23824327
MIRT647464	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT647462	hsa-miR-1267	HITS-CLIP	23824327
MIRT647461	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT647459	hsa-miR-3182	HITS-CLIP	23824327
MIRT647460	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT647458	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT647457	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT647456	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620079	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620080	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT620079	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT620078	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT620077	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT949997	hsa-miR-101	CLIP-seq
MIRT949998	hsa-miR-144	CLIP-seq
MIRT949999	hsa-miR-4760-3p	CLIP-seq
MIRT950000	hsa-miR-582-5p	CLIP-seq
MIRT950001	hsa-miR-600	CLIP-seq
MIRT950002	hsa-miR-1224-3p	CLIP-seq
MIRT950003	hsa-miR-1245b-5p	CLIP-seq
MIRT950004	hsa-miR-1260	CLIP-seq
MIRT950005	hsa-miR-1260b	CLIP-seq
MIRT950006	hsa-miR-1280	CLIP-seq
MIRT950007	hsa-miR-1827	CLIP-seq
MIRT950008	hsa-miR-188-3p	CLIP-seq
MIRT950009	hsa-miR-3136-5p	CLIP-seq
MIRT950010	hsa-miR-3142	CLIP-seq
MIRT950011	hsa-miR-3156-3p	CLIP-seq
MIRT950012	hsa-miR-3187-3p	CLIP-seq
MIRT950013	hsa-miR-34b	CLIP-seq
MIRT950014	hsa-miR-3978	CLIP-seq
MIRT950015	hsa-miR-4287	CLIP-seq
MIRT950016	hsa-miR-4420	CLIP-seq
MIRT950017	hsa-miR-4439	CLIP-seq
MIRT950018	hsa-miR-4513	CLIP-seq
MIRT950019	hsa-miR-4529-5p	CLIP-seq
MIRT950020	hsa-miR-4649-3p	CLIP-seq
MIRT950021	hsa-miR-4685-3p	CLIP-seq
MIRT950022	hsa-miR-4705	CLIP-seq
MIRT950023	hsa-miR-889	CLIP-seq
MIRT950009	hsa-miR-3136-5p	CLIP-seq
MIRT950013	hsa-miR-34b	CLIP-seq
MIRT950016	hsa-miR-4420	CLIP-seq
MIRT950017	hsa-miR-4439	CLIP-seq
MIRT950018	hsa-miR-4513	CLIP-seq
MIRT2387188	hsa-miR-196a	CLIP-seq
MIRT2387189	hsa-miR-196b	CLIP-seq
MIRT2387190	hsa-miR-3622a-5p	CLIP-seq
MIRT2387191	hsa-miR-3927	CLIP-seq
MIRT2387192	hsa-miR-4423-3p	CLIP-seq
MIRT2387193	hsa-miR-4797-3p	CLIP-seq
MIRT2448624	hsa-miR-3120-3p	CLIP-seq
MIRT2448625	hsa-miR-335	CLIP-seq
MIRT2448626	hsa-miR-451b	CLIP-seq
MIRT2448627	hsa-miR-4667-3p	CLIP-seq
MIRT2448624	hsa-miR-3120-3p	CLIP-seq
MIRT2448625	hsa-miR-335	CLIP-seq
MIRT2448626	hsa-miR-451b	CLIP-seq
MIRT2448627	hsa-miR-4667-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 27107012, 28530676, 29892012, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IDA	19852954
GO:0005814	Component	Centriole	IDA	28530676
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0021532	Process	Neural tube patterning	IEA
GO:0032880	Process	Regulation of protein localization	IMP	28530676
GO:0033365	Process	Protein localization to organelle	IEA
GO:0033504	Process	Floor plate development	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	19852954, 28530676
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	19852954, 28530676
GO:0061512	Process	Protein localization to cilium	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:1905349	Process	Ciliary transition zone assembly	IEA

MIM	HGNC	e!Ensembl
617570	26551	ENSG00000158163

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
QQQRGQQELGRQADELKGVREESRRRRKMISTLQQLLMQTGTHSYHTCHLCDKTFMNATF
LRGHIQRRHAGVAEGGKQKKQEQPVEEVLEELRAKLKWTQGELEAQREAERQRQLQEAEL
IHQREIEAKKEFDKWKEQEWTKLYGEIDKLKKLFWDEFKNVAKQNSTLEEKLRALQSHSV
MESKLGSLRDEESEEWLRQARELQALREKTEIQKTEWKRKVKELHEEHMAEKKELQEENQ
RLQASLSQDQKKAAAQSQCQISTLRAQLQEQARIIASQEEMIQSLSLRKVEGIHKVPKAV
DTEEDSPEEEMEDSQDEQHKVLAALRRNPTLLKHFRPILEDTLEEKLESMGIRKDAKGIS
IQTLRHLESLLRVQREQKARKFSEFLSLRGKLVKEVTSRAKERQENGAVVSQPDGQPSVK
SQQSTLVTREAQPKTRTLQVALPSTPAEPPPPTRQSHGSHGSSLTQVSAPAPRPGLHGPS
STPPSSGPGMSTPPFSSEEDSEGDRVQRVSLQPPKVPSRMVPRPKDDWDWSDTETSEENA
QPPGQGSGTLVQSMVKNLEKQLEAPAKKPAGGVSLFFMPNAGPQRAATPGRKPQLSEDES
DLEISSLEDLPLDLDQREKPKPLSRSKLPEKFGTGPQSSGQPRVPAW

Sequence length

767

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DZIP1L-related disorder	Likely pathogenic	rs747165958	RCV004754732	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 5	Likely pathogenic; Pathogenic	rs747165958, rs970655990, rs929750748, rs555349004, rs1135402754, rs1135402755, rs1135402756	RCV001331851 RCV003990674 RCV004594754 RCV000496993 RCV000496986 RCV000496990 RCV000496995 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	28530676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	GENOMICS_ENGLAND_DG	28530676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	CTD_human_DG	28530676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	ORPHANET_DG	28530676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive polycystic kidney disease	Polycystic kidney disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34482648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	35211789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 5	Polycystic kidney disease	GENOMICS_ENGLAND_DG	28530676		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 5	Polycystic kidney disease	UNIPROT_DG	28530676		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 5	Polycystic kidney disease	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	35211789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DZIP1L (DAZ interacting zinc finger protein 1 like)