1. Gene
  2. DZIP1L - DAZ interacting zinc finger protein 1 like Gene

DZIP1L - DAZ interacting zinc finger protein 1 like Gene

Homo sapiens

Also known as PKD5; DZIP2

Gene ID: 199221 | Gene type: protein coding

About DZIP1L

Cytogenetic location: 3q22.3 Genomic coordinates (GRCh38): 3:138,061,990-138,115,608 (from NCBI)

This gene has 9 transcripts (splice variants), 142 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in stomach (RPKM 1.1), skin (RPKM 1.0) and 24 other tissues.

Summary

Predicted to enable metal ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in ciliary basal body. Colocalizes with centriole. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Apr 2022]

DZIP1L Products(2)

mRNA Protein Name
NM_001170538.1 NP_001164009.1 cilium assembly protein DZIP1L isoform 2
NM_173543.3 NP_775814.2 cilium assembly protein DZIP1L isoform 1

DZIP1L Protein Structure

Dzip-like_N

Dzip-like_N: Iguana/Dzip1-like DAZ-interacting protein N-terminal (24 - 144)

  • 0
  • 200
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  • 767 a.a.
Protein Preferred Names Protein Names

cilium assembly protein DZIP1L

DAZ interacting protein 1-like

Related Diseases

Diseases Alias
Polycystic Kidney Disease 5

PKD5

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Congenital Anomalies Of Kidney And Urinary Tract 1

CAKUT1

Renal Hypodysplasia, Nonsyndromic, 1

Rhdns1

Congenital Anomalies Of The Kidney And Urinary Tract 1

Non-Syndromic Renal Hypodysplasia 1

Kidney And Urinary Tract, Anomalies, Congenital, Susceptibility To, Type 1

Diabetes Insipidus, Nephrogenic, 2, Autosomal

Diabetes Insipidus, Nephrogenic, Autosomal

NDI2

Diabetes Insipidus, Nephrogenic, Type Ii

Diabetes Insipidus, Nephrogenic, 2

Nephrogenic Diabetes Insipidus Type 2

Autosomal Nephrogenic Diabetes Insipidus-2

Diabetes Insipidus, Nephrogenic Type 2

ANDI

Diabetes Insipidus Nephrogenic Type 2

Doid:0081061

Nephrogenic Diabetes Insipidus

Congenital Nephrogenic Diabetes Insipidus

Adh-Resistant Diabetes Insipidus

Renal Dysplasia, Cystic

CYSRD

Renal Dysplasia, Cystic, Susceptibility To

Diffuse Cystic Renal Dysplasia

Renal Dysplasia Diffuse Cystic

Cystic Renal Dysplasia

Susceptibility To Cystic Renal Dysplasia

Dysplasia, Renal, Cystic, Susceptibility To

Multicystic Dysplastic Kidney

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DZIP1L MGD MGI:1919757
Rattus norvegicus DZIP1L RGD RGD:1311430
Felis catus DZIP1L VGNC VGNC:61692
Canis familiaris DZIP1L VGNC VGNC:40162
Macaca mulatta DZIP1L VGNC VGNC:71910
Bos taurus DZIP1L VGNC VGNC:53540