SRP54
entrez
6729
canonical
uniprot
P61011
canonical
ensembl
ENSG00000100883
resolver
ensp
ENSP00000216774
resolver
ensp
ENSP00000451647
resolver
ensp
ENSP00000451775
resolver
ensp
ENSP00000504673
resolver
ensp
ENSP00000598783
resolver
enst
ENST00000555746
resolver
enst
ENST00000928724
resolver
genesymbol
SRP54
resolver
hgnc
HGNC:11301
resolver
uniprot
B2R759
resolver
uniprot
B4DUW6
resolver
uniprot
G3V480
resolver
uniprot
P13624
resolver
uniprot_entry
G3V480_HUMAN
resolver
uniprot_entry
SRP54_HUMAN
resolver
uniprot_sec
B2R759
resolver
uniprot_sec
B4DUW6
resolver
uniprot_sec
P13624
resolver
amino_acid_sequence
MVLADLGRKITSALRSLSNATIINEEVLNAMLKEVCTALLEADVNIKLVKQLRENVKSAIDLEEMASGLNKRKMIQHAVFKELVKLVDPGVKAWTPTKGKQNVIMFVGLQGSGKTTTCSKLAYYYQRKGWKTCLICADTFRAGAFDQLKQNATKARIPFYGSYTEMDPVIIASEGVEKFKNENFEIIIVDTSGRHKQEDSLFEEMLQVANAIQPDNIVYVMDASIGQACEAQAKAFKDKVDVASVIVTKLDGHAKGGGALSAVAATKSPIIFIGTGEHIDDFEPFKTQPFISKLLGMGDIEGLIDKVNELKLDDNEALIEKLKHGQFTLRDMYEQFQNIMKMGPFSQILGMIPGFGTDFMSKGNEQESMARLKKLMTIMDSMNDQELDSTDGAKVFSKQPGRIQRVARGSGVSTRDVQELLTQYTKFAQMVKKMGGIKGLFKGGDMSKNVSQSQMAKLNQQMAKMMDPRVLHHMGGMAGLQSMMRQFQQGAAGNMKGMMGFNNM
uniprot
proteins
disease_involvement
DISEASE: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]: 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. {ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.4
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P61010, ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}.
uniprot
proteins
mass_dalton
55705
uniprot
proteins
protein_family
GTP-binding SRP family
uniprot
proteins
protein_family
SRP54 subfamily
uniprot
proteins
pubmed
10497032
uniprot
proteins
pubmed
12244299
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14729963
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28972538
uniprot
proteins
pubmed
29914977
uniprot
proteins
pubmed
34020957
uniprot
proteins
pubmed
8722571
uniprot
proteins
pubmed
9511762
uniprot
proteins
sequence_length
504
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:14729963}. Cytoplasm {ECO:0000269|PubMed:14729963, ECO:0000269|PubMed:29914977}. Endoplasmic reticulum {ECO:0000269|PubMed:29914977}.
uniprot
proteins