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.

Signal Recognition Particle 54

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 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

Nucleus speckle
Cytoplasm
Endoplasmic reticulum

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.