ACRBP: Acrosin Binding Protein
A testis-specific gene encoding a protein involved in sperm acrosome formation and fertilization
Gene Information Card
| Symbol | ACRBP |
|---|---|
| Full Name | Acrosin Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 84519 ncbi.nlm.nih.gov/gene/84519 |
| Ensembl ID | ENSG00000111642 |
| UniProt ID | Q8IUC1 |
| OMIM ID | 608354 |
| HGNC ID | 24012 |
| Aliases | CT23, OY-TES-1, SP32 |
Description
ACRBP (acrosin binding protein) is a testis-specific gene that encodes a protein localized to the sperm acrosome. It binds proacrosin and may play a role in acrosome formation, sperm maturation, and fertilization. The protein is also known as a cancer/testis antigen (CT23) and is expressed in some tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Altered ACRBP expression or function may impair acrosome formation and sperm-egg fusion | Limited evidence from expression studies; no definitive pathogenic variants in ClinVar |
| Cancer (testicular, ovarian, others) | ACRBP is a cancer/testis antigen; aberrant expression in tumors may trigger immune response | Expression data from COSMIC and literature; not a driver mutation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| Testicular germ cell tumor cell lines | Variable | Some lines show 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 benign (no functional data) |
| c.123C>T (p.Ser41=) | synonymous | <0.01% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0005737 - cytoplasm | • GO:0001669 - acrosomal vesicle |
| • GO:0007338 - single fertilization |
Pathways
• Sperm acrosome assembly (Reactome: R-HSA-1187000)
Protein Summary
The ACRBP protein (UniProt Q8IUC1) is a 421-amino acid acrosin-binding protein predominantly expressed in testis. It contains a proline-rich region and is localized to the acrosomal matrix. It binds proacrosin (ACR) and may regulate acrosin activation during sperm capacitation and acrosome reaction. The protein is also recognized as a cancer/testis antigen (OY-TES-1) with potential immunotherapeutic applications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACRBP Knockout HEK293 Cell Line | EDJ-KQ3779 | Human | 84519 | Details Get a Quote |
| ACRBP Knockout HeLa Cell Line | EDJ-KQ25878 | Human | 84519 | Details Get a Quote |
| ACRBP Knockout A-549 Cell Line | EDJ-KQ66104 | Human | 84519 | Details Get a Quote |
| ACRBP Knockout HCT 116 Cell Line | EDJ-KQ74524 | Human | 84519 | Details Get a Quote |
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