DZIP1 - DAZ interacting zinc finger protein 1 Gene

Also Known as DZIP; MVP3; DZIPt1; SPGF47

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22873

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 References 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 References 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 References 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

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 867 a.a.
Protein Preferred Names Protein Names

cilium assembly protein DZIP1

  • DAZ interacting protein 1

DZIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DZIP1 Q86YF9 LUC7L2 Homo sapiens Q9Y383
Validated Y2H
32296183
Intra
DZIP1 Q86YF9 PPP2R5E Homo sapiens Q16537
Y2H
21878643
Intra
DZIP1 Q86YF9 PPP2R5E Homo sapiens Q16537
Pull Down
21878643
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / Unkown
HY-RS04108 DZIP1L Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DZIP1 NCBI