DZIP1L - DAZ interacting zinc finger protein 1 like Gene

Also Known as PKD5; DZIP2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 199221

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	19852954	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	28530676	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
colocalizes with centriole	IDA IDA: Inferred from direct assay	19852954	GOA
located in centriole	IDA IDA: Inferred from direct assay	28530676	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	19852954	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DZIP1L Protein Structure

Dzip-like_N

0
200
400
600
767 a.a.

Protein Preferred Names	Protein Names
cilium assembly protein DZIP1L	DAZ interacting protein 1-like

DZIP1L Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	DZIP1L	Q8IYY4	PNMA5	Homo sapiens	Q96PV4	Y2H Array	32296183
Intra	DZIP1L	Q8IYY4	PNMA5	Homo sapiens	Q96PV4	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	PNMA5	Homo sapiens	Q96PV4	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	TEPSIN	Homo sapiens	Q96N21	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	TEPSIN	Homo sapiens	Q96N21	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	TEPSIN	Homo sapiens	Q96N21	Y2H Array	32296183
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61-2	Validated Y2H	27107012
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61-2	BFG-2H	27107012
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61-2	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61-2	Y2H Array	32296183
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61-2	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	TRIM37	Homo sapiens	O94972	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	TRIM37	Homo sapiens	O94972	Y2H Array	32296183
Intra	DZIP1L	Q8IYY4	CBY2	Homo sapiens	Q8NA61	Y2H Array	25416956
Intra	DZIP1L	Q8IYY4	CEP76	Homo sapiens	Q8TAP6	Y2H Array	25416956
Intra	DZIP1L	Q8IYY4	LRRN4	Homo sapiens	Q8WUT4	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	AMOTL2	Homo sapiens	Q9Y2J4	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	AMOTL2	Homo sapiens	Q9Y2J4	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	AMOTL2	Homo sapiens	Q9Y2J4	Y2H Array	32296183
Intra	DZIP1L	Q8IYY4	CBY1	Homo sapiens	Q9Y3M2	Y2H Prey Pooling	32296183
Intra	DZIP1L	Q8IYY4	CBY1	Homo sapiens	Q9Y3M2	Validated Y2H	32296183
Intra	DZIP1L	Q8IYY4	CBY1	Homo sapiens	Q9Y3M2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04108	DZIP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	DZIP1L	NCBI