CCNB1IP1
Cyclin B1 Interacting Protein 1
Gene Information Card
| Symbol | CCNB1IP1 |
|---|---|
| Full Name | Cyclin B1 Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 57820 ncbi.nlm.nih.gov/gene/57820 |
| Ensembl ID | ENSG00000100814 |
| UniProt ID | Q9BWT7 |
| OMIM ID | 608249 |
| HGNC ID | 20419 |
| Aliases | HEI10, C14orf18, FLJ10156 |
Description
CCNB1IP1 (Cyclin B1 Interacting Protein 1) is a protein-coding gene located on chromosome 14q11.2. It encodes a RING finger protein that acts as an E3 ubiquitin ligase, involved in cell cycle regulation, meiotic recombination, and DNA repair. The protein interacts with cyclin B1 and is implicated in cancer and reproductive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of cell cycle via ubiquitination of cyclin B1 | COSMIC, ClinVar |
| Infertility | Defects in meiotic recombination | OMIM, literature |
| Endometrial cancer | Overexpression and mutation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 6.8 | Low |
| Breast | 4.2 | Low |
| Lung | 3.1 | Low |
| Colon | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| A549 | 5.4 | Lung cancer cell line |
| HEK293 | 4.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01 | Unknown |
| c.205G>A (p.Glu69Lys) | Missense | <0.01 | Unknown |
| c.340_341insA | Frameshift | <0.01 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the RING domain, impairing E3 ligase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase stability or activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Cell cycle (KEGG: hsa04110)
• Meiosis (Reactome: R-HSA-1500620)
Protein Summary
CCNB1IP1 encodes a 316-amino acid protein with a RING finger domain at the N-terminus, characteristic of E3 ubiquitin ligases. It localizes to the nucleus and is involved in ubiquitination and degradation of cyclin B1, thereby regulating mitotic exit. During meiosis, it promotes crossover formation by facilitating the disassembly of the synaptonemal complex. The protein is highly expressed in testis and overexpressed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCNB1IP1 Knockout HEK293 Cell Line | EDJ-KQ12820 | Human | 57820 | Details Get a Quote |
| CCNB1IP1 Knockout HCT 116 Cell Line | EDJ-KQ41955 | Human | 57820 | Details Get a Quote |
| CCNB1IP1 Knockout HeLa Cell Line | EDJ-KQ41956 | Human | 57820 | Details Get a Quote |
| CCNB1IP1 Knockout A-549 Cell Line | EDJ-KQ40706 | Human | 57820 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
