SRP72
entrez
6731
canonical
uniprot
O76094
canonical
ensembl
ENSG00000174780
resolver
ensp
ENSP00000424576
resolver
ensp
ENSP00000495128
resolver
ensp
ENSP00000683172
resolver
genesymbol
HEL103
resolver
genesymbol
SRP72
resolver
genesymbol_syn
SRP72
resolver
hgnc
HGNC:11303
resolver
uniprot
A0A024RD94
resolver
uniprot
G5E9Z8
resolver
uniprot
Q7Z3C0
resolver
uniprot
V9HWK0
resolver
uniprot_entry
SRP72_HUMAN
resolver
uniprot_entry
V9HWK0_HUMAN
resolver
uniprot_sec
A0A024RD94
resolver
uniprot_sec
G5E9Z8
resolver
uniprot_sec
Q7Z3C0
resolver
amino_acid_sequence
MASGGSGGVSVPALWSEVNRYGQNGDFTRALKTVNKILQINKDDVTALHCKVVCLIQNGSFKEALNVINTHTKVLANNSLSFEKAYCEYRLNRIENALKTIESANQQTDKLKELYGQVLYRLERYDECLAVYRDLVRNSQDDYDEERKTNLSAVVAAQSNWEKVVPENLGLQEGTHELCYNTACALIGQGQLNQAMKILQKAEDLCRRSLSEDTDGTEEDPQAELAIIHGQMAYILQLQGRTEEALQLYNQIIKLKPTDVGLLAVIANNIITINKDQNVFDSKKKVKLTNAEGVEFKLSKKQLQAIEFNKALLAMYTNQAEQCRKISASLQSQSPEHLLPVLIQAAQLCREKQHTKAIELLQEFSDQHPENAAEIKLTMAQLKISQGNISKACLILRSIEELKHKPGMVSALVTMYSHEEDIDSAIEVFTQAIQWYQNHQPKSPAHLSLIREAANFKLKYGRKKEAISDLQQLWKQNPKDIHTLAQLISAYSLVDPEKAKALSKHLPSSDSMSLKVDVEALENSAGATYIRKKGGKVTGDSQPKEQGQGDLKKKKKKKKGKLPKNYDPKVTPDPERWLPMRERSYYRGRKKGKKKDQIGKGTQGATAGASSELDASKTVSSPPTSPRPGSAATVSASTSNIIPPRHQKPAGAPATKKKQQQKKKKGGKGGW
uniprot
proteins
disease_involvement
DISEASE: Bone marrow failure syndrome 1 (BMFS1) [MIM:614675]: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. {ECO:0000269|PubMed:22541560}. Note=The disease is 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) in presence of SRP68 (PubMed:21073748, PubMed:27899666). Can bind 7SL RNA with low affinity (PubMed:21073748, PubMed:27899666). The SRP complex possibly participates in the elongation arrest function (By similarity). {ECO:0000250|UniProtKB:P38688, ECO:0000269|PubMed:21073748, ECO:0000269|PubMed:27899666, ECO:0000269|PubMed:34020957}.
uniprot
proteins
mass_dalton
74606
uniprot
proteins
mutagenesis
MUTAGEN 11..44; /note="Missing: Loss of interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 44; /note="D->E: Reduced interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 45; /note="V->I: Reduced interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 53; /note="V->I: Reduced interaction with SRP68. Diminished localization to endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 56; /note="I->A: Loss of interaction with SRP72; when associated with A-598 in SRP68."; /evidence="ECO:0000269|PubMed:27899666"; MUTAGEN 86; /note="Y->C: Loss of interaction with SRP68. Diminished localization to endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 113..131; /note="Missing: Loss of interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 132..165; /note="Missing: Loss of interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 136..137; /note="VR->AA: Stronger interaction with SRP68."; /evidence="ECO:0000269|PubMed:28369529"; MUTAGEN 553..558; /note="KKKKKK->AAAAAA: Loss of RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 555..556; /note="KK->AA: Diminished RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 577..578; /note="WL->AA: Loss of RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 579..580; /note="PM->AA: Diminished RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 579; /note="P->A: Strongly reduced RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 580; /note="M->A: Does not affect RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 581..582; /note="RE->AA: Diminished RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 583..584; /note="RS->AA: Loss of RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 585..586; /note="YY->AA: Diminished RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 587..588; /note="RG->AA: No impact on RNA binding."; /evidence="ECO:0000269|PubMed:21073748"; MUTAGEN 589..590; /note="RK->AA: No impact on RNA binding."; /evidence="ECO:0000269|PubMed:21073748
uniprot
proteins
protein_family
SRP72 family
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16672232
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21073748
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22541560
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27899666
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28369529
uniprot
proteins
pubmed
34020957
uniprot
proteins
sequence_length
671
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22541560}. Endoplasmic reticulum {ECO:0000269|PubMed:22541560, ECO:0000269|PubMed:28369529}.
uniprot
proteins