DZIP1L Gene
DAZ Interacting Zinc Finger Protein 1 Like
Gene Information Card
| Symbol | DZIP1L |
|---|---|
| Full Name | DAZ interacting zinc finger protein 1 like |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.3 |
| NCBI Gene ID | 199221 ncbi.nlm.nih.gov/gene/199221 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q8N5C8 |
| OMIM ID | 617570 |
| HGNC ID | 26522 |
| Aliases | DKFZp686B02106, FLJ23588, MGC138290 |
Description
DZIP1L (DAZ interacting zinc finger protein 1 like) encodes a protein involved in ciliary function and localizes to the distal end of centrioles and basal bodies. It is essential for proper ciliary signaling and maintenance. Mutations in DZIP1L cause autosomal recessive polycystic kidney disease (ARPKD) with or without hepatic fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic kidney disease, autosomal recessive (ARPKD) | Loss-of-function mutations disrupt ciliary function, leading to cyst formation in kidneys and bile ducts | OMIM #617570; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 5.2 | Medium |
| Liver | 3.8 | Low |
| Testis | 6.1 | Medium |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HepG2 | 3.2 | Low expression |
| RPTEC (renal proximal tubule epithelial) | 6.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1078C>T (p.Arg360*) | Nonsense | Rare | Loss of function; truncation |
| c.1243G>A (p.Gly415Arg) | Missense | Rare | Impaired ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary function, causing ARPKD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for DZIP1L.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • centrosome (GO:0005813) |
| • cilium (GO:0005929) | • cilium assembly (GO:0060271) |
| • cilium organization (GO:0042384) |
Pathways
• Cilium assembly and maintenance
• Hedgehog signaling pathway (via ciliary transport)
Protein Summary
DZIP1L is a 674-amino acid protein containing zinc finger domains and a coiled-coil region. It localizes to the distal appendages of centrioles and is required for docking of ciliary vesicles and proper ciliogenesis. Loss of DZIP1L disrupts ciliary signaling, leading to polycystic kidney disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DZIP1L Knockout HEK293 Cell Line | EDJ-KQ11676 | Human | 199221 | 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 |
