ACR Gene - Acrosin
Essential serine protease for sperm acrosome reaction and fertilization
Gene Information Card
| Symbol | ACR |
|---|---|
| Full Name | Acrosin |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 49 ncbi.nlm.nih.gov/gene/49 |
| Ensembl ID | ENSG00000100312 |
| UniProt ID | P10323 |
| OMIM ID | 102480 |
| HGNC ID | 124 |
| Aliases | ACROS, ACRS |
Description
ACR encodes acrosin, a serine protease stored in the sperm acrosome. It is activated during the acrosome reaction to digest the zona pellucida, enabling sperm penetration and fertilization. The gene is expressed exclusively in testis and is essential for male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Deficient acrosin activity impairs zona pellucida penetration | ClinVar, OMIM |
| Globozoospermia | Absent acrosome leads to lack of acrosin; associated with ACR mutations | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 102.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | Primary site of expression |
| Testis (Sertoli cells) | N/A | Supporting cells; acrosin not expressed |
| HEK293 | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; predicted loss of function |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Reduced enzymatic activity; associated with infertility |
| c.640C>T (p.Arg214*) | Nonsense | Very rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish acrosin proteolytic activity impair sperm penetration.
Gain of Function (GOF)
Not reported for ACR.
Dominant Negative (DN)
Not reported for ACR.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • sperm-egg recognition | • acrosome reaction |
| • extracellular matrix disassembly |
Pathways
• Fertilization (KEGG: hsa04950)
• Proteolysis (Reactome: R-HSA-3928662)
Protein Summary
Acrosin is a 421-amino acid serine protease synthesized as a zymogen (proacrosin) in the testis. It is stored in the sperm acrosome and activated upon capacitation. The active enzyme cleaves zona pellucida glycoproteins, facilitating sperm entry. Its activity is regulated by serine protease inhibitors (serpins).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACRBP Knockout HEK293 Cell Line | EDJ-KQ3779 | Human | 84519 | Details Get a Quote |
| ACR Knockout HEK293 Cell Line | EDJ-KQ3998 | Human | 49 | Details Get a Quote |
| ACRV1 Knockout HEK293 Cell Line | EDJ-KQ4001 | Human | 56 | Details Get a Quote |
| ACRBP Knockout HeLa Cell Line | EDJ-KQ25878 | Human | 84519 | Details Get a Quote |
| ACR Knockout HeLa Cell Line | EDJ-KQ52536 | Human | 49 | Details Get a Quote |
| ACRV1 Knockout HeLa Cell Line | EDJ-KQ52539 | Human | 56 | Details Get a Quote |
| ACR Knockout A-549 Cell Line | EDJ-KQ61018 | Human | 49 | Details Get a Quote |
| ACRV1 Knockout A-549 Cell Line | EDJ-KQ61021 | Human | 56 | Details Get a Quote |
| ACRBP Knockout A-549 Cell Line | EDJ-KQ66104 | Human | 84519 | Details Get a Quote |
| ACR Knockout HCT 116 Cell Line | EDJ-KQ69493 | Human | 49 | Details Get a Quote |
| ACRV1 Knockout HCT 116 Cell Line | EDJ-KQ69496 | Human | 56 | Details Get a Quote |
| ACRBP Knockout HCT 116 Cell Line | EDJ-KQ74524 | Human | 84519 | Details Get a Quote |
