CRISP1

Chr 6

cysteine rich secretory protein 1

Also known as: AEGL1, ARP, CRISP-1, HEL-S-57, HSCRISP1D, HSCRISP1G, HUMARP

Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.36
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.36LOEUF
pLI 0.000
Z-score 0.64
OE 0.80 (0.491.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.26Z-score
OE missense 1.30 (1.151.48)
177 obs / 135.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.491.36)
00.351.4
Missense OE?1.30 (1.151.48)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 10 / 12.4Missense obs/exp: 177 / 135.7Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRISP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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