DZIP1
DAZ Interacting Zinc Finger Protein 1
Gene Information Card
| Symbol | DZIP1 |
|---|---|
| Full Name | DAZ interacting zinc finger protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 22873 ncbi.nlm.nih.gov/gene/22873 |
| Ensembl ID | ENSG00000134871 |
| UniProt ID | Q86YF9 |
| OMIM ID | 608671 |
| HGNC ID | 20919 |
| Aliases | DAZIP, DZIP1a, FLJ23588 |
Description
DZIP1 encodes a zinc finger protein that interacts with DAZ (Deleted in Azoospermia) family proteins and is essential for primary cilia formation and hedgehog signaling. It localizes to the basal body and centrioles, regulating ciliogenesis and spermatogenesis. Mutations in DZIP1 are associated with ciliopathies and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 15 | Disrupted DZIP1 function impairs spermatogenesis, leading to non-obstructive azoospermia | ClinVar; OMIM #616253 |
| Joubert syndrome 21 | Defective ciliogenesis due to DZIP1 loss disrupts hedgehog signaling, causing cerebellar and retinal anomalies | OMIM #617790 |
| Ciliopathy-related phenotypes | Impaired primary cilia assembly leads to multisystem disorders including renal, retinal, and skeletal defects | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 4.8 | Medium |
| Kidney | 3.1 | Medium |
| Lung | 2.5 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | High expression |
| HeLa | 5.3 | Moderate expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1114C>T (p.Arg372*) | Nonsense | Rare | Loss of function; truncation of zinc finger domains |
| c.1630G>A (p.Glu544Lys) | Missense | Rare | Impaired cilia assembly |
| c.2029C>T (p.Arg677Trp) | Missense | Rare | Reduced hedgehog signaling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of ciliogenesis function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cilium assembly (Reactome: R-HSA-5617833)
• Intraflagellar transport (Reactome: R-HSA-5620920)
Protein Summary
DZIP1 is a 888-amino-acid zinc finger protein that localizes to the basal body and centrioles. It interacts with DAZ family proteins and is critical for primary cilia formation and hedgehog signaling. The protein contains multiple C2H2-type zinc finger domains and a coiled-coil region, mediating protein-protein interactions essential for ciliogenesis and spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DZIP1 Knockout HEK293 Cell Line | EDJ-KQ7709 | Human | 22873 | Details Get a Quote |
| DZIP1L Knockout HEK293 Cell Line | EDJ-KQ11676 | Human | 199221 | Details Get a Quote |
| DZIP1 Knockout A-549 Cell Line | EDJ-KQ33102 | Human | 22873 | Details Get a Quote |
| DZIP1 Knockout HeLa Cell Line | EDJ-KQ33103 | Human | 22873 | Details Get a Quote |
| DZIP1L Knockout A-549 Cell Line | EDJ-KQ40018 | Human | 199221 | Details Get a Quote |
| DZIP1L Knockout HCT 116 Cell Line | EDJ-KQ40019 | Human | 199221 | Details Get a Quote |
| DZIP1L Knockout HeLa Cell Line | EDJ-KQ40020 | Human | 199221 | Details Get a Quote |
| DZIP1 Knockout HCT 116 Cell Line | EDJ-KQ72595 | Human | 22873 | Details Get a Quote |
