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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DZIP1L
DAZ interacting zinc finger protein 1 like
Chromosome 3 Β· 3q22.3
NCBI Gene: 199221Ensembl: ENSG00000158163.16HGNC: HGNC:26551UniProt: Q8IYY4
25PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium assemblyprotein bindingregulation of protein localizationcentriolepolycystic kidney disease 5kidney diseaseautosomal recessive polycystic kidney diseasepreeclampsia
✦AI Summary

DZIP1L (DAZ interacting zinc finger protein 1 like) is a basal body and transition zone protein essential for primary cilium formation and function 1. DZIP1L localizes to ciliary transition fibers, striking structures at the ciliary base that serve as a selective gatekeeping mechanism 1. The protein regulates ciliary protein entry by modulating transition fiber architecture and function, working synergistically with ANKRD26 to control the passage of both soluble and membrane proteins into the cilium 1. This function is critical for proper localization of polycystin-1 (PKD1/PC1) and polycystin-2 (PKD2/PC2) to the ciliary membrane 2. DZIP1L mutations cause autosomal recessive polycystic kidney disease (ARPKD), a rare form of cystic kidney disease 3. DZIP1L accounts for a minor subset of ARPKD cases, with mutations generally associated with moderate disease severity 4. The N-terminal domain is critical for proper protein localization and function, as mutations in this region lead to protein mislocalization and disease 5. Unlike PKHD1-associated ARPKD, patients with DZIP1L mutations typically lack significant liver involvement 5. Genetic testing of DZIP1L should be included in multigene panels for cystic kidney disease evaluation 5.

Sources cited
1
DZIP1L localizes to transition fibers and regulates their architecture to control ciliary protein entry
PMID: 38634253
2
DZIP1L is a transition zone/basal body protein required for PC1/2 ciliary localization
PMID: 32475690
3
DZIP1L is a minor gene causing autosomal recessive polycystic kidney disease
PMID: 38097330
4
DZIP1L mutations are associated with moderate ARPKD
PMID: 35032595
5
DZIP1L N-terminal domain is critical for protein function; DZIP1L-related ARPKD typically lacks significant liver involvement
PMID: 35211789
Disease Associationsβ“˜21
polycystic kidney disease 5Open Targets
0.66Moderate
kidney diseaseOpen Targets
0.60Moderate
autosomal recessive polycystic kidney diseaseOpen Targets
0.46Moderate
preeclampsiaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
nephronophthisisOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
Senior-Boichis syndromeOpen Targets
0.06Suggestive
renal cysts and diabetes syndromeOpen Targets
0.05Suggestive
Syndactyly type 2Open Targets
0.05Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
Autosomal dominant polycystic kidney diseaseOpen Targets
0.05Suggestive
deafnessOpen Targets
0.05Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.05Suggestive
polydactyly, postaxial, type A1Open Targets
0.05Suggestive
syndactyly type 4Open Targets
0.05Suggestive
Infundibulopelvic stenosis - multicystic kidneyOpen Targets
0.05Suggestive
infundibulopelvic stenosis-multicystic kidney syndromeOpen Targets
0.05Suggestive
NPHP3-related Meckel-like syndromeOpen Targets
0.05Suggestive
Polycystic kidney disease 5UniProt
Pathogenic Variants17
NM_173543.3(DZIP1L):c.1235-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_173543.3(DZIP1L):c.1072G>T (p.Glu358Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 358
NM_173543.3(DZIP1L):c.1118del (p.Ala373fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 373
NM_173543.3(DZIP1L):c.925C>T (p.Arg309Ter)Pathogenic
DZIP1L-related disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 309
NM_173543.3(DZIP1L):c.857_858del (p.Ser286fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 286
NM_173543.3(DZIP1L):c.288C>A (p.Tyr96Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 96
NM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter)Likely pathogenic
Polycystic kidney disease 5
β˜…β˜†β˜†β˜†2025β†’ Residue 524
NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter)Likely pathogenic
Polycystic kidney disease 5
β˜…β˜†β˜†β˜†2024β†’ Residue 672
NM_173543.3(DZIP1L):c.2002G>T (p.Gly668Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 668
NM_173543.3(DZIP1L):c.870+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)Pathogenic
Polycystic kidney disease 5
β˜…β˜†β˜†β˜†2022β†’ Residue 155
NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)Likely pathogenic
Polycystic kidney disease 5|DZIP1L-related disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 243
NM_173543.3(DZIP1L):c.802_805del (p.Asp268fs)Pathogenic
DZIP1L-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 268
NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2022β†’ Residue 423
NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs)Pathogenic
Polycystic kidney disease 5
β˜†β˜†β˜†β˜†2017β†’ Residue 354
NM_173543.3(DZIP1L):c.273G>C (p.Gln91His)Pathogenic
Polycystic kidney disease 5
β˜†β˜†β˜†β˜†2017β†’ Residue 91
NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val)Pathogenic
Polycystic kidney disease 5
β˜†β˜†β˜†β˜†2017β†’ Residue 90
View on ClinVar β†—
Related Genes
CBY1Protein interaction77%TMEM231Shared pathway50%TRIM67Shared pathway50%CIBAR2Shared pathway50%CFAP184Shared pathway50%HYLS1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
39%
Lung
23%
Heart
15%
Liver
5%
Brain
2%
Gene Interaction Network
Click a node to explore
DZIP1LCBY1TMEM231TRIM67CIBAR2CFAP184HYLS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IYY4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.26LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.05 [0.88–1.26]
RankingsWhere DZIP1L stands among ~20K protein-coding genes
  • #12,970of 20,598
    Most Researched25
  • #2,367of 5,498
    Most Pathogenic Variants17
  • #13,260of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedDZIP1L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
PMID: 38097330
Adv Kidney Dis Health Β· 2023
1.00
2
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
PMID: 36938073
Kidney Int Rep Β· 2023
0.90
3
The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers.
PMID: 38634253
Adv Sci (Weinh) Β· 2024
0.80
4
Cilia and polycystic kidney disease.
PMID: 32475690
Semin Cell Dev Biol Β· 2021
0.70
5
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.
PMID: 38671465
Orphanet J Rare Dis Β· 2024
0.60