DZIP1

Chr 13

DAZ interacting zinc finger protein 1

Also known as: DZIP, DZIPt1, MMVP3, MVP3, SPGF47

NCBI Gene: 22873 ENSG00000134874 UniProt: Q86YF9

DZIP1 encodes a molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body, and activates vesicle-mediated transport of proteins to the cilium. Mutations cause mitral valve prolapse and spermatogenic failure in males, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene is not constrained against loss-of-function variants, and the associated phenotypes reflect the protein's essential roles in cardiac development and sperm flagellum assembly through ciliogenesis.

ResearchSummary from RefSeq, OMIM, UniProt

Enables BBSome binding activity and molecular adaptor activity. Involved in cilium organization; heart development; and protein-containing complex localization to centriolar satellite. Located in cytosol; microtubule organizing center; and nucleoplasm. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitral valve prolapse 3

UniProtSpermatogenic failure 47

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.03LOEUF

pLI 0.000

Z-score 1.39

OE 0.78 (0.60–1.03)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.95Z-score

OE missense 0.88 (0.81–0.95)

421 obs / 479.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.78 (0.60–1.03)

0≤0.351.4

Missense OE?0.88 (0.81–0.95)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 36 / 46.2Missense obs/exp: 421 / 479.8Syn Z: 0.53

Background carrier burden — how many people carry a rare variant somewhere in DZIP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 70

1,116 rare PASS variants

Rare truncating (LoF)

1 in 830

200 rare PASS variants

Rare synonymous (reference)

1 in 130

417 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DZIP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 77	1 in 820
South Asian	~43k	1 in 66	1 in 710
Remaining (unassigned)	~30k	1 in 73	1 in 830
European (Finnish)	~27k	1 in 240	1 in 1,100
Admixed American	~22k	1 in 41	1 in 720
African / African American	~21k	1 in 45	1 in 1,000
East Asian	~20k	1 in 84	1 in 430
Ashkenazi Jewish	~13k	1 in 310	1 in 1,600
Middle Eastern	~2,884	1 in 61	1 in 480

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 18 of 20 coding exons well covered in gnomAD exomes; exons 13, 19 marginal. Genomes: all 20.? see exons ↓