Aliases for SRP72 Gene
External Ids for SRP72 Gene
Previous GeneCards Identifiers for SRP72 Gene
This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
GeneCards Summary for SRP72 Gene
SRP72 (Signal Recognition Particle 72kDa) is a Protein Coding gene. Diseases associated with SRP72 include bone marrow failure syndrome 1 and bone marrow failure, familial. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Gene Expression. GO annotations related to this gene include 7S RNA binding and signal recognition particle binding.
UniProtKB/Swiss-Prot for SRP72 Gene
Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function