BNC1
entrez
646
canonical
uniprot
Q01954
canonical
ensembl
ENSG00000169594
resolver
ensp
ENSP00000307041
resolver
ensp
ENSP00000456727
resolver
enst
ENST00000345382
resolver
enst
ENST00000569704
resolver
genesymbol
BNC1
resolver
genesymbol_syn
BNC
resolver
hgnc
HGNC:1081
resolver
uniprot
B7Z885
resolver
uniprot
F5GY04
resolver
uniprot
Q15840
resolver
uniprot_entry
B7Z885_HUMAN
resolver
uniprot_entry
BNC1_HUMAN
resolver
uniprot_entry
F5GY04_HUMAN
resolver
uniprot_sec
Q15840
resolver
amino_acid_sequence
MRRRPPSRGGRGAARARETRRQPRHRSGRRMAEAISCTLNCSCQSFKPGKINHRQCDQCKHGWVAHALSKLRIPPMYPTSQVEIVQSNVVFDISSLMLYGTQAIPVRLKILLDRLFSVLKQDEVLQILHALDWTLQDYIRGYVLQDASGKVLDHWSIMTSEEEVATLQQFLRFGETKSIVELMAIQEKEEQSIIIPPSTANVDIRAFIESCSHRSSSLPTPVDKGNPSSIHPFENLISNMTFMLPFQFFNPLPPALIGSLPEQYMLEQGHDQSQDPKQEVHGPFPDSSFLTSSSTPFQVEKDQCLNCPDAITKKEDSTHLSDSSSYNIVTKFERTQLSPEAKVKPERNSLGTKKGRVFCTACEKTFYDKGTLKIHYNAVHLKIKHKCTIEGCNMVFSSLRSRNRHSANPNPRLHMPMNRNNRDKDLRNSLNLASSENYKCPGFTVTSPDCRPPPSYPGSGEDSKGQPAFPNIGQNGVLFPNLKTVQPVLPFYRSPATPAEVANTPGILPSLPLLSSSIPEQLISNEMPFDALPKKKSRKSSMPIKIEKEAVEIANEKRHNLSSDEDMPLQVVSEDEQEACSPQSHRVSEEQHVQSGGLGKPFPEGERPCHRESVIESSGAISQTPEQATHNSERETEQTPALIMVPREVEDGGHEHYFTPGMEPQVPFSDYMELQQRLLAGGLFSALSNRGMAFPCLEDSKELEHVGQHALARQIEENRFQCDICKKTFKNACSVKIHHKNMHVKEMHTCTVEGCNATFPSRRSRDRHSSNLNLHQKALSQEALESSEDHFRAAYLLKDVAKEAYQDVAFTQQASQTSVIFKGTSRMGSLVYPITQVHSASLESYNSGPLSEGTILDLSTTSSMKSESSSHSSWDSDGVSEEGTVLMEDSDGNCEGSSLVPGEDEYPICVLMEKADQSLASLPSGLPITCHLCQKTYSNKGTFRAHYKTVHLRQLHKCKVPGCNTMFSSVRSRNRHSQNPNLHKSLASSPSHLQ
uniprot
proteins
disease_involvement
DISEASE: Premature ovarian failure 16 (POF16) [MIM:618723]: An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:30010909}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator (By similarity). It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). It is involved in the positive regulation of oocyte maturation, probably acting through the control of BMP15 levels and regulation of AKT signaling cascade (PubMed:30010909). May also play a role in the early development of embryos (By similarity). {ECO:0000250|UniProtKB:O35914, ECO:0000269|PubMed:30010909, ECO:0000269|PubMed:8034748}.
uniprot
proteins
mass_dalton
110972
uniprot
proteins
mutagenesis
MUTAGEN 537; /note="S->A: No effect on phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated with A-541."; /evidence="ECO:0000269|PubMed:9223293"; MUTAGEN 537; /note="S->D: Reduces phosphorylation and induces partial relocation into the cytoplasm."; /evidence="ECO:0000269|PubMed:9223293"; MUTAGEN 540; /note="S->D: No effect on phosphorylation, no effect on subcellular location."; /evidence="ECO:0000269|PubMed:9223293"; MUTAGEN 541; /note="S->A: Strongly reduces phosphorylation. Abolishes phosphorylation and induces nuclear restriction; when associated with A-537."; /evidence="ECO:0000269|PubMed:9223293"; MUTAGEN 541; /note="S->D: Strongly reduces phosphorylation and induces partial relocation into the cytoplasm."; /evidence="ECO:0000269|PubMed:9223293
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization. {ECO:0000269|PubMed:9223293}.
uniprot
proteins
pubmed
1332044
uniprot
proteins
pubmed
16891417
uniprot
proteins
pubmed
30010909
uniprot
proteins
pubmed
8034748
uniprot
proteins
pubmed
9099851
uniprot
proteins
pubmed
9223293
uniprot
proteins
pubmed
9687312
uniprot
proteins
sequence_length
994
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16891417, ECO:0000269|PubMed:30010909, ECO:0000269|PubMed:8034748, ECO:0000269|PubMed:9223293}. Cytoplasm {ECO:0000269|PubMed:9223293}. Nucleus, nucleoplasm {ECO:0000269|PubMed:16891417}. Note=Relocates to the midpiece of the flagellum during late spermiogenesis in spermatids. {ECO:0000250|UniProtKB:O35914}.
uniprot
proteins