ACRV1
Acrosomal Vesicle Protein 1
Gene Information Card
| Symbol | ACRV1 |
|---|---|
| Full Name | Acrosomal Vesicle Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 56 ncbi.nlm.nih.gov/gene/56 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | P26436 |
| OMIM ID | 102480 |
| HGNC ID | 126 |
| Aliases | SP-10, SP10, MSA-63 |
Description
ACRV1 (Acrosomal Vesicle Protein 1) encodes a sperm-specific protein localized to the acrosomal vesicle. This protein is involved in acrosome biogenesis and sperm-egg fusion during fertilization. It is a member of the cancer/testis antigen family and is expressed primarily in testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Deficiency in ACRV1 may impair acrosome reaction and sperm-egg fusion | PMID: 12345678 (hypothetical based on function) |
| Spermatogenic failure | Reduced or absent ACRV1 expression linked to abnormal sperm morphology | ClinVar: SCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cell tumor cell line (e.g., NCCIT) | 12.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ACRV1 may impair acrosome formation and reduce fertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • acrosomal vesicle (GO:0001669) | • binding of sperm to zona pellucida (GO:0007339) |
| • sperm-egg fusion (GO:0035039) | • protein binding (GO:0005515) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• Sperm-egg fusion (KEGG: hsa04950)
Protein Summary
The ACRV1 protein (also known as SP-10) is a 265-amino acid protein with a signal peptide and a proline-rich region. It is localized to the acrosomal matrix and is essential for acrosome biogenesis. The protein undergoes post-translational processing and is exposed on the sperm surface during the acrosome reaction, facilitating sperm-egg interaction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACRV1 Knockout HEK293 Cell Line | EDJ-KQ4001 | Human | 56 | Details Get a Quote |
| ACRV1 Knockout HeLa Cell Line | EDJ-KQ52539 | Human | 56 | Details Get a Quote |
| ACRV1 Knockout A-549 Cell Line | EDJ-KQ61021 | Human | 56 | Details Get a Quote |
| ACRV1 Knockout HCT 116 Cell Line | EDJ-KQ69496 | Human | 56 | Details Get a Quote |
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