SRP54

SRP54 (Signal Recognition Particle 54) is a Protein Coding gene. Diseases associated with SRP54 include Shwachman-Diamond Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTPase activity.

Full Name

Signal Recognition Particle 54

Function

Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957).
As part of the SRP complex, associates with the SRP receptor (SR) component SRPRA to target secretory proteins to the endoplasmic reticulum membrane (PubMed:34020957).
Binds to the signal sequence of presecretory proteins when they emerge from the ribosomes (PubMed:34020957).
Displays basal GTPase activity, and stimulates reciprocal GTPase activation of the SR subunit SRPRA (PubMed:28972538, PubMed:34020957).
Forms a guanosine 5'-triphosphate (GTP)-dependent complex with the SR subunit SRPRA (PubMed:34020957).
SR compaction and GTPase mediated rearrangement of SR drive SRP-mediated cotranslational protein translocation into the ER (PubMed:34020957).
Requires the presence of SRP9/SRP14 and/or SRP19 to stably interact with RNA (By similarity).
Plays a role in proliferation and differentiation of granulocytic cells, neutrophils migration capacity and exocrine pancreas development (PubMed:28972538, PubMed:29914977).

Biological Process

Biological Process exocrine pancreas developmentISS:UniProtKB
Biological Process granulocyte differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process neutrophil chemotaxisISS:UniProtKB
Biological Process protein targeting to ERManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process SRP-dependent cotranslational protein targeting to membrane1 PublicationIC:MGI
Biological Process SRP-dependent cotranslational protein targeting to membrane, signal sequence recognitionISS:UniProtKB
Biological Process SRP-dependent cotranslational protein targeting to membrane, translocationISS:UniProtKB

Cellular Location

Nucleus speckle
Cytoplasm
Endoplasmic reticulum

Involvement in disease

Neutropenia, severe congenital 8, autosomal dominant (SCN8):
A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.