SRP68
entrez
6730
canonical
uniprot
Q9UHB9
canonical
ensembl
ENSG00000167881
resolver
ensp
ENSP00000312066
resolver
ensp
ENSP00000446136
resolver
ensp
ENSP00000473613
resolver
genesymbol
SRP68
resolver
hgnc
HGNC:11302
resolver
uniprot
B3KUU5
resolver
uniprot
B3KWY7
resolver
uniprot
G3V1U4
resolver
uniprot
Q8NCJ4
resolver
uniprot
Q8WUK2
resolver
uniprot_entry
SRP68_HUMAN
resolver
uniprot_sec
B3KUU5
resolver
uniprot_sec
B3KWY7
resolver
uniprot_sec
G3V1U4
resolver
uniprot_sec
Q8NCJ4
resolver
uniprot_sec
Q8WUK2
resolver
amino_acid_sequence
MAAEKQVPGGGGGGGSGGGGGSGGGGSGGGRGAGGEENKENERPSAGSKANKEFGDSLSLEILQIIKESQQQHGLRHGDFQRYRGYCSRRQRRLRKTLNFKMGNRHKFTGKKVTEELLTDNRYLLLVLMDAERAWSYAMQLKQEANTEPRKRFHLLSRLRKAVKHAEELERLCESNRVDAKTKLEAQAYTAYLSGMLRFEHQEWKAAIEAFNKCKTIYEKLASAFTEEQAVLYNQRVEEISPNIRYCAYNIGDQSAINELMQMRLRSGGTEGLLAEKLEALITQTRAKQAATMSEVEWRGRTVPVKIDKVRIFLLGLADNEAAIVQAESEETKERLFESMLSECRDAIQVVREELKPDQKQRDYILEGEPGKVSNLQYLHSYLTYIKLSTAIKRNENMAKGLQRALLQQQPEDDSKRSPRPQDLIRLYDIILQNLVELLQLPGLEEDKAFQKEIGLKTLVFKAYRCFFIAQSYVLVKKWSEALVLYDRVLKYANEVNSDAGAFKNSLKDLPDVQELITQVRSEKCSLQAAAILDANDAHQTETSSSQVKDNKPLVERFETFCLDPSLVTKQANLVHFPPGFQPIPCKPLFFDLALNHVAFPPLEDKLEQKTKSGLTGYIKGIFGFRS
uniprot
proteins
disease_involvement
DISEASE: Neutropenia, severe congenital, 10, autosomal recessive (SCN10) [MIM:620534]: 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. SCN10 is characterized by infantile onset of neutropenia. Anemia and thrombocytopenia may be transiently present. {ECO:0000269|PubMed:32273475}. Note=The disease may be caused by variants affecting the gene represented in this entry.
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). The SRP complex interacts with the signal sequence in nascent secretory and membrane proteins and directs them to the membrane of the ER (PubMed:34020957). The SRP complex targets the ribosome-nascent chain complex to the SRP receptor (SR), which is anchored in the ER, where SR compaction and GTPase rearrangement drive cotranslational protein translocation into the ER (PubMed:34020957). Binds the signal recognition particle RNA (7SL RNA), SRP72 binds to this complex subsequently (PubMed:16672232, PubMed:27899666). The SRP complex possibly participates in the elongation arrest function (By similarity). {ECO:0000250|UniProtKB:P38687, ECO:0000269|PubMed:16672232, ECO:0000269|PubMed:27899666, ECO:0000269|PubMed:34020957}.
uniprot
proteins
mass_dalton
70730
uniprot
proteins
mutagenesis
MUTAGEN 86; /note="Y->A: Loss of interaction with SRP72."; /evidence="ECO:0000269|PubMed:27899666"; MUTAGEN 590; /note="F->L: Loss of interaction with SRP72. Diminished localization to endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 592; /note="D->A: Loss of interaction with SRP72."; /evidence="ECO:0000269|PubMed:27899666"; MUTAGEN 598; /note="V->A: Loss of interaction with SRP72; when associated with A-56 in SRP72."; /evidence="ECO:0000269|PubMed:27899666"; MUTAGEN 600; /note="F->A: Loss of interaction with SRP72."; /evidence="ECO:0000269|PubMed:27899666"; MUTAGEN 609; /note="Q->H: Reduced interaction with SRP72."; /evidence="ECO:0000269|PubMed:28369529
uniprot
proteins
protein_family
SRP68 family
uniprot
proteins
pubmed
10618370
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16672232
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24700861
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27899666
uniprot
proteins
pubmed
28369529
uniprot
proteins
pubmed
32273475
uniprot
proteins
pubmed
34020957
uniprot
proteins
sequence_length
627
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10618370}. Nucleus, nucleolus {ECO:0000269|PubMed:10618370}. Endoplasmic reticulum {ECO:0000269|PubMed:28369529}.
uniprot
proteins