BICC1 Gene - BicC Family RNA Binding Protein 1
Key regulator of RNA metabolism and ciliary function, implicated in renal development and cancer
Gene Information Card
| Symbol | BICC1 |
|---|---|
| Full Name | BicC Family RNA Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.1 |
| NCBI Gene ID | 80114 ncbi.nlm.nih.gov/gene/80114 |
| Ensembl ID | ENSG00000107819 |
| UniProt ID | Q9H694 |
| OMIM ID | 614295 |
| HGNC ID | 19351 |
| Aliases | BICC, FLJ20315, bicaudal C homolog 1 |
Description
BICC1 encodes a member of the bicaudal C family of RNA-binding proteins. The protein contains three KH domains and a sterile alpha motif (SAM) domain, and is involved in post-transcriptional regulation of gene expression, particularly in the context of ciliary function and renal development. Mutations in BICC1 are associated with cystic kidney disease and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cysts and diabetes syndrome (RCAD) | Loss-of-function mutations in BICC1 disrupt RNA binding and ciliary signaling, leading to renal cyst formation | OMIM #614295 |
| Nephronophthisis-like phenotype | Biallelic BICC1 variants impair renal tubular development via defective RNA metabolism | ClinVar |
| Colorectal cancer | Somatic BICC1 mutations and altered expression may contribute to tumorigenesis through dysregulated RNA processing | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Testis | 15.1 | Medium |
| Brain | 6.7 | Low |
| Lung | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney cells; high expression |
| HepG2 | 9.1 | Liver cancer cell line; moderate expression |
| A549 | 4.8 | Lung cancer cell line; low expression |
| MCF7 | 3.2 | Breast cancer cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2074C>T (p.Arg692*) | Nonsense | Rare | Loss of function; truncation of SAM domain |
| c.1235G>A (p.Arg412Gln) | Missense | Rare | Likely loss of function; affects KH domain RNA binding |
| c.2860_2861del (p.Leu954Valfs*3) | Frameshift | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Most reported BICC1 mutations are loss-of-function, leading to reduced RNA binding and disrupted ciliary signaling, associated with renal cystic disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in BICC1.
Dominant Negative (DN)
Not established; heterozygous mutations may act via haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • regulation of translation | • ciliary basal body |
| • cytoplasmic stress granule | • negative regulation of canonical Wnt signaling pathway |
Pathways
• Wnt signaling pathway
• Ciliopathy-associated pathways
• RNA metabolism
Protein Summary
BICC1 is an RNA-binding protein with three KH domains and a C-terminal SAM domain. It localizes to cytoplasmic stress granules and the ciliary basal body, where it regulates mRNA translation and stability. BICC1 negatively modulates canonical Wnt signaling, and its loss leads to ciliary dysfunction and renal cyst formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICC1 Knockout HEK293 Cell Line | EDJ-KQ1052 | Human | 80114 | Details Get a Quote |
| BICC1 Knockout A-549 Cell Line | EDJ-KQ20167 | Human | 80114 | Details Get a Quote |
| BICC1 Knockout HeLa Cell Line | EDJ-KQ20168 | Human | 80114 | Details Get a Quote |
| BICC1 Knockout HCT 116 Cell Line | EDJ-KQ74223 | Human | 80114 | Details Get a Quote |
