ZCRB1
Zinc Finger CCHC-Type and RNA Binding Motif 1
Gene Information Card
| Symbol | ZCRB1 |
|---|---|
| Full Name | Zinc Finger CCHC-Type and RNA Binding Motif 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 85437 ncbi.nlm.nih.gov/gene/85437 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8TBF4 |
| OMIM ID | 613895 |
| HGNC ID | 28982 |
| Aliases | MADP, SNRNP31, U11/U12-31K |
Description
ZCRB1 encodes a zinc finger CCHC-type RNA-binding protein that is a component of the U11/U12 di-snRNP complex, involved in the splicing of U12-type introns. The protein contains a CCHC-type zinc finger motif and an RNA recognition motif (RRM), facilitating RNA binding and spliceosome assembly. ZCRB1 is ubiquitously expressed and plays a role in pre-mRNA splicing regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | ZCRB1 mutations may disrupt U12-dependent splicing in photoreceptor cells, leading to retinal degeneration. | ClinVar; PMID: 28193612 |
| Cancer (general) | Altered ZCRB1 expression may affect splicing of cancer-related genes; somatic mutations reported in various tumors. | COSMIC; PMID: 29056338 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | RNA-seq from GTEx |
| K562 | 9.8 | RNA-seq from ENCODE |
| HeLa | 8.5 | RNA-seq from ENCODE |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Reported in retinitis pigmentosa; potential loss of RNA binding |
| c.347G>A (p.Arg116Gln) | Missense | <0.01% | ClinVar uncertain significance |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants that impair RNA binding or protein stability are predicted loss-of-function.
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)
| • RNA binding | • zinc ion binding |
| • U12-type spliceosomal complex | • mRNA splicing |
| • via spliceosome | • nucleus |
Pathways
• U12-dependent splicing (mRNA splicing via spliceosome)
Protein Summary
ZCRB1 is a 31 kDa protein component of the U11/U12 di-snRNP complex. It contains a CCHC-type zinc finger domain and an RNA recognition motif (RRM), enabling specific binding to U12-type intron RNA. The protein localizes to the nucleus and is essential for the accurate splicing of a subset of pre-mRNAs. Mutations in ZCRB1 are associated with retinitis pigmentosa, and altered expression is observed in some cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZCRB1 Knockout HEK293 Cell Line | EDJ-KQ51880 | Human | 85437 | Details Get a Quote |
| ZCRB1 Knockout HeLa Cell Line | EDJ-KQ57712 | Human | 85437 | Details Get a Quote |
| ZCRB1 Knockout A-549 Cell Line | EDJ-KQ66213 | Human | 85437 | Details Get a Quote |
| ZCRB1 Knockout HCT 116 Cell Line | EDJ-KQ74637 | Human | 85437 | Details Get a Quote |
