CCIN
Calicin, a basic protein of the sperm head cytoskeleton
Gene Information Card
| Symbol | CCIN |
|---|---|
| Full Name | Calicin |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 881 ncbi.nlm.nih.gov/gene/881 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q13939 |
| OMIM ID | 602756 |
| HGNC ID | 1742 |
| Aliases | CT90, MGC138211 |
Description
The CCIN gene encodes calicin, a basic protein that is a major component of the sperm head cytoskeleton. Calicin is localized to the calyx region of the sperm head and is essential for maintaining the structural integrity and shape of the sperm nucleus. It is expressed specifically in testis and plays a critical role in spermatogenesis and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Defects in CCIN may disrupt sperm head cytoskeleton, leading to abnormal sperm morphology and reduced fertility. | Limited evidence from case-control studies and animal models. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of function, associated with spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Likely; mutations affecting the start codon or disrupting the protein structure may impair sperm head cytoskeleton assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • structural constituent of cytoskeleton (GO:0005200) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • spermatogenesis (GO:0007283) |
| • sperm head (GO:0030317) | • calyx of sperm head (GO:0031594) |
Pathways
• Spermatogenesis (Reactome: R-HSA-72086)
Protein Summary
Calicin is a 588-amino acid basic protein with a molecular weight of approximately 66 kDa. It contains a coiled-coil domain and is a structural component of the sperm head cytoskeleton, specifically the calyx. It interacts with other cytoskeletal proteins to maintain nuclear shape and stability during spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCIN Knockout HEK293 Cell Line | EDJ-KQ4204 | Human | 881 | Details Get a Quote |
| CCIN Knockout HeLa Cell Line | EDJ-KQ52799 | Human | 881 | Details Get a Quote |
| CCIN Knockout A-549 Cell Line | EDJ-KQ61270 | Human | 881 | Details Get a Quote |
| CCIN Knockout HCT 116 Cell Line | EDJ-KQ69765 | Human | 881 | Details Get a Quote |