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  2. DZIP1 - DAZ interacting zinc finger protein 1 Gene

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

DZIP1 Protein Structure

Dzip-like_N

Dzip-like_N: Iguana/Dzip1-like DAZ-interacting protein N-terminal (58 - 178)

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  • 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

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