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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DAZAP1
DAZ associated protein 1
Chromosome 19 · 19p13.3
NCBI Gene: 26528Ensembl: ENSG00000071626.17HGNC: HGNC:2683UniProt: A0A0S2Z569
117PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein-containing complexribonucleoprotein complexprotein bindingneurodegenerative diseasemonoclonal B-cell lymphocytosisgastric canceresophageal squamous cell carcinoma
✦AI Summary

DAZAP1 (DAZ-associated protein 1) is an RNA-binding protein containing two RNA-binding domains that functions as a splicing regulator with diverse roles in cellular metabolism and cancer progression 1. Originally identified through its interaction with infertility factors DAZ and DAZL, DAZAP1 is highly expressed in testis and shows evolutionarily conserved expression patterns across mammalian species 12. Beyond reproductive tissues, DAZAP1 plays critical roles in multiple cancer types through distinct mechanisms. In oral squamous cell carcinoma, DAZAP1 undergoes liquid-liquid phase separation to enhance COX16 expression via alternative splicing, promoting mitochondrial respiration and tumor metastasis 3. In gastric cancer, DAZAP1 maintains cancer stem cell properties by promoting mitophagy through ULK1 splicing regulation, enhancing oxidative phosphorylation 4, while also stabilizing PIN1 protein to activate MAPK signaling and chemotherapy resistance 5. DAZAP1 also serves as a fusion partner in acute lymphoblastic leukemia with MEF2D, conferring poor prognosis 6, and is identified as a recurrent driver mutation in mantle cell lymphoma 7. Additionally, DAZAP1 localizes to paraspeckles where it negatively regulates drug metabolism by suppressing PXR-mediated CYP3A4 induction 8. These findings establish DAZAP1 as a multifunctional regulator with significant therapeutic potential across hematologic and solid malignancies.

Sources cited
1
DAZAP1 contains two RNA-binding domains, interacts with DAZ and DAZL proteins, is highly expressed in testis, and is evolutionarily conserved
PMID: 11604102
2
DAZAP1 is expressed in ovarian tissues and interacts with DAZL protein, suggesting diverse reproductive functions
PMID: 16209998
3
DAZAP1 undergoes phase separation to regulate COX16 expression via splicing, promoting mitochondrial respiration and OSCC metastasis
PMID: 39120588
4
DAZAP1 promotes gastric cancer stemness by regulating ULK1 splicing to activate mitophagy and enhance OXPHOS
PMID: 40401521
5
DAZAP1 stabilizes USP34 mRNA, leading to PIN1 stabilization and MAPK pathway activation, promoting GC progression and chemoresistance
PMID: 41331184
6
DAZAP1 is a fusion partner with MEF2D in acute lymphoblastic leukemia, associated with poor patient outcomes
PMID: 27824051
7
DAZAP1 is identified as a novel recurrent driver mutation in mantle cell lymphoma
PMID: 32584970
8
DAZAP1 is a paraspeckle component that interacts with PXR to negatively regulate CYP3A4 induction
PMID: 37349114
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
monoclonal B-cell lymphocytosisOpen Targets
0.11Weak
gastric cancerOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.07Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
ring chromosome YOpen Targets
0.06Suggestive
primary ovarian insufficiencyOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
46,XX gonadal dysgenesisOpen Targets
0.05Suggestive
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DAZ1Protein interaction95%DAZAP2Protein interaction94%MSI1Protein interaction91%MSI2Protein interaction91%KHSRPProtein interaction84%DAZLProtein interaction84%
Tissue Expression6 tissues
Ovary
100%
Liver
95%
Lung
93%
Bone Marrow
88%
Brain
50%
Heart
43%
Gene Interaction Network
Click a node to explore
DAZAP1DAZ1DAZAP2MSI1MSI2KHSRPDAZL
PROTEIN STRUCTURE
Preparing viewer…
PDB2DGS · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.24]
RankingsWhere DAZAP1 stands among ~20K protein-coding genes
  • #4,035of 20,598
    Most Researched117 · top quartile
  • #677of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedDAZAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DAZAP1 Phase Separation Regulates Mitochondrial Metabolism to Facilitate Invasion and Metastasis of Oral Squamous Cell Carcinoma.
PMID: 39120588
Cancer Res · 2024
1.00
2
Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.
PMID: 27824051
Nat Commun · 2016
0.90
3
Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes.
PMID: 32584970
Blood · 2020
0.80
4
DAZAP1 maintains gastric cancer stemness by inducing mitophagy.
PMID: 40401521
JCI Insight · 2025
0.70
5
Characterization of the mouse Dazap1 gene encoding an RNA-binding protein that interacts with infertility factors DAZ and DAZL.
PMID: 11604102
BMC Genomics · 2001
0.60