SPACA1

Chr 6

sperm acrosome associated 1

Also known as: SAMP32, SPGF85

The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 85
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
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?
0.77LOEUF
pLI 0.023
Z-score 2.16
OE 0.37 (0.190.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.68Z-score
OE missense 0.86 (0.750.98)
149 obs / 174.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.190.77)
00.351.4
Missense OE?0.86 (0.750.98)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 5 / 13.6Missense obs/exp: 149 / 174.1Syn Z: 1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPACA1 · 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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