SRPRB Gene (Signal Recognition Particle Receptor Subunit B)
Key component of the signal recognition particle receptor complex involved in protein targeting to the endoplasmic reticulum
Gene Information Card
| Symbol | SRPRB |
|---|---|
| Full Name | Signal Recognition Particle Receptor Subunit B |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 6733 ncbi.nlm.nih.gov/gene/6733 |
| Ensembl ID | ENSG00000144827 |
| UniProt ID | Q9Y5M8 |
| OMIM ID | 607545 |
| HGNC ID | 11307 |
| Aliases | APMCF1, SR-beta, SRPRB2 |
Description
SRPRB encodes the beta subunit of the signal recognition particle (SRP) receptor, a heterodimeric transmembrane protein complex located on the endoplasmic reticulum (ER) membrane. The SRP receptor recognizes the SRP-ribosome-nascent polypeptide complex and facilitates the co-translational targeting of secretory and membrane proteins to the ER. The beta subunit is essential for the stability and function of the receptor complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Heart | 7.6 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HeLa | 11.0 | Cervical adenocarcinoma cell line |
| K562 | 8.5 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | No known functional effect |
| c.202C>T | synonymous | <0.01% | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease
Gain of Function (GOF)
No confirmed gain-of-function mutations reported
Dominant Negative (DN)
No confirmed dominant-negative mutations reported
View complete mutation data：
Gene Ontology (GO)
| • signal recognition particle receptor activity | • protein targeting to ER |
| • SRP-dependent cotranslational protein targeting to membrane | • endoplasmic reticulum membrane |
| • signal recognition particle binding |
Pathways
• SRP-dependent cotranslational protein targeting to membrane
• Protein processing in endoplasmic reticulum
Protein Summary
The SRPRB protein (UniProt Q9Y5M8) is a 271-amino acid transmembrane protein that forms the beta subunit of the SRP receptor. It contains a single transmembrane domain and a cytoplasmic domain that interacts with the alpha subunit (SRPRA). The beta subunit is required for the proper assembly and function of the SRP receptor complex, which mediates the docking of the SRP-ribosome complex to the ER membrane during protein translocation.
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