DZIP1 - DAZ interacting zinc finger protein 1 Gene

Homo sapiens

Also known as DZIP; MVP3; DZIPt1; SPGF47

Gene ID: 22873 | Gene type: protein coding

About DZIP1

Cytogenetic location: 13q32.1 Genomic coordinates (GRCh38): 13:95,578,202-95,644,706 (from NCBI)

This gene has 8 transcripts (splice variants), 217 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues.

Summary

Predicted to enable metal ion binding activity. Involved in cilium assembly; germ cell development; and spermatogenesis. Located in cytosol; microtubule organizing center; and nucleoplasm. Colocalizes with centriole. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Apr 2022]

DZIP1 Products(2)

mRNA	Protein	Name
NM_014934.5	NP_055749.1	cilium assembly protein DZIP1 isoform 1
NM_198968.4	NP_945319.1	cilium assembly protein DZIP1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables BBSome binding	IDA IDA: Inferred from direct assay	27979967	GOA
enables molecular adaptor activity	IMP IMP: Inferred from mutant phenotype	27979967	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15081113	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ciliary basal body organization	IMP IMP: Inferred from mutant phenotype	32051257	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	19852954	GOA
involved in germ cell development	IEP IEP: Inferred from expression pattern	15081113	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	31118289	GOA
involved in protein-containing complex localization to centriolar satellite	IDA IDA: Inferred from direct assay	27979967	GOA
involved in sperm flagellum assembly	IMP IMP: Inferred from mutant phenotype	32051257	GOA
involved in spermatogenesis	IMP IMP: Inferred from mutant phenotype	32051257	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centriolar satellite	IDA IDA: Inferred from direct assay	27979967	GOA
colocalizes with centriole	IDA IDA: Inferred from direct assay	19852954	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	19852954	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15081113	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15081113	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

DZIP1 Protein Structure

Dzip-like_N

0
200
400
600
800
867 a.a.

Protein Preferred Names

Protein Names

cilium assembly protein DZIP1

DAZ interacting protein 1

Related Diseases

Diseases

Alias

Mitral Valve Prolapse 3

Mitral Valve Prolapse, Myxomatous 3	MVP3
Mmvp3	Myxomatous Mitral Valve Prolapse 3

Spermatogenic Failure 47

SPGF47

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04107	DZIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04108	DZIP1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DZIP1	MGD	MGI:1914311
Felis catus	DZIP1	VGNC	VGNC:61691
Rattus norvegicus	DZIP1	RGD	RGD:1307701
Macaca mulatta	DZIP1	VGNC	VGNC:71875
Bos taurus	DZIP1	VGNC	VGNC:28284
Canis familiaris	DZIP1	VGNC	VGNC:40161

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