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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DZIP1
DAZ interacting zinc finger protein 1
Chromosome 13 · 13q32.1
NCBI Gene: 22873Ensembl: ENSG00000134874.19HGNC: HGNC:20908UniProt: B3KSP1
38PubMed Papers
22Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolcentriolar satellitemolecular adaptor activityBBSome bindingspermatogenic failure 47mitral valve prolapseneurodegenerative diseasemitral valve prolapse, myxomatous 3
✦AI Summary

DZIP1 (DAZ interacting zinc finger protein 1) is a molecular adapter protein essential for cilium assembly and spermatogenesis. Structurally, DZIP1 contains a C2H2 zinc finger domain 1 and functions as a scaffolding protein at the ciliary base body. Its primary role involves recruiting protein complexes required for ciliogenesis, including the BBSome and intraflagellar transport machinery, by bridging these complexes to centriolar satellites 2. DZIP1 is also critical for spermatogenesis through basal body organization and sperm flagellum assembly 3. Beyond structural roles, DZIP1 participates in Hedgehog signaling regulation and forms a complex with CBY1 and β-catenin that suppresses β-catenin activity during cardiac valve development 4. Additionally, DZIP1 functions in ribonucleoprotein complexes and stress granule formation, with associated mRNAs involved in cell cycle regulation 5. Clinically, mutations in DZIP1 cause spermatogenic failure characterized by multiple morphological abnormalities of sperm flagella 3, while dysregulation contributes to mitral valve prolapse through aberrant β-catenin signaling and extracellular matrix degradation 46. DZIP1 upregulation in gastric cancer promotes epithelial-mesenchymal transition and immunosuppression 7, suggesting broader roles in disease pathogenesis.

Sources cited
1
DZIP1 contains a C2H2 zinc finger domain and structural characterization across species
PMID: 16368222
2
DZIP1 involvement in ribonucleoprotein complexes, stress granules, and Hedgehog signaling
PMID: 24993635
3
DZIP1-CBY-FAM92 complex role in transition zone assembly and ciliary bud formation
PMID: 32491167
4
DZIP1 regulates cardiac valve development through Cby1-β-catenin mechanism and mitral valve prolapse pathogenesis
PMID: 33811421
5
Homozygous DZIP1 mutations cause asthenoteratospermia with severe multiple morphological abnormalities of sperm flagella
PMID: 32051257
6
DZIP1 involvement in both familial and isolated forms of mitral valve prolapse
PMID: 35345263
7
DZIP1 upregulation in gastric cancer promotes epithelial-mesenchymal transition and immunosuppression
PMID: 36805200
Disease Associationsⓘ22
spermatogenic failure 47Open Targets
0.57Moderate
mitral valve prolapseOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
mitral valve prolapse, myxomatous 3Open Targets
0.34Weak
Left bundle branch blockOpen Targets
0.31Weak
male infertilityOpen Targets
0.30Weak
pericarditisOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.22Weak
intellectual developmental disorder 61Open Targets
0.12Weak
azoospermiaOpen Targets
0.11Weak
sialolithiasisOpen Targets
0.11Weak
gestational diabetesOpen Targets
0.10Weak
Abnormality of the integumentOpen Targets
0.10Weak
gastric cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Mitral valve prolapse 3UniProt
Spermatogenic failure 47UniProt
Pathogenic Variants2
NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)Pathogenic
Spermatogenic failure 47
☆☆☆☆2020→ Residue 230
NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)Pathogenic
Spermatogenic failure 47
☆☆☆☆2020→ Residue 63
View on ClinVar ↗
Related Genes
DAZ1Protein interaction94%DAZLProtein interaction81%HMMRProtein interaction77%CBY1Protein interaction75%CFAP54Shared pathway43%LRRC46Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Brain
39%
Heart
26%
Lung
13%
Liver
7%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
DZIP1DAZ1DAZLHMMRCBY1CFAP54LRRC46
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86YF9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.70–1.01]
RankingsWhere DZIP1 stands among ~20K protein-coding genes
  • #10,464of 20,598
    Most Researched38
  • #4,471of 5,498
    Most Pathogenic Variants2
  • #9,831of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedDZIP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules.
PMID: 24993635
BMC Mol Biol · 2014
1.00
2
Characterization of structure and expression of the Dzip1 gene in the rat and mouse.
PMID: 16368222
Genomics · 2006
0.90
3
DZIP1 expressed in fibroblasts and tumor cells may affect immunosuppression and metastatic potential in gastric cancer.
PMID: 36805200
Int Immunopharmacol · 2023
0.80
4
Genetic background of mitral valve prolapse.
PMID: 35345263
Rev Cardiovasc Med · 2022
0.70
5
Role of DZIP1-CBY-FAM92 transition zone complex in the basal body to membrane attachment and ciliary budding.
PMID: 32491167
Biochem Soc Trans · 2020
0.60