POF1B
entrez
79983
canonical
uniprot
Q8WVV4
canonical
ensembl
ENSG00000124429
resolver
ensp
ENSP00000262753
resolver
ensp
ENSP00000362238
resolver
ensp
ENSP00000541733
resolver
genesymbol
POF1B
resolver
hgnc
HGNC:13711
resolver
uniprot
A8K2U5
resolver
uniprot
Q5H9E9
resolver
uniprot
Q5H9F0
resolver
uniprot
Q8NG12
resolver
uniprot
Q9H5Y2
resolver
uniprot
Q9H738
resolver
uniprot
Q9H744
resolver
uniprot_entry
POF1B_HUMAN
resolver
uniprot_sec
A8K2U5
resolver
uniprot_sec
Q5H9E9
resolver
uniprot_sec
Q5H9F0
resolver
uniprot_sec
Q8NG12
resolver
uniprot_sec
Q9H5Y2
resolver
uniprot_sec
Q9H738
resolver
uniprot_sec
Q9H744
resolver
amino_acid_sequence
MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKLTTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHIIQQPQVIHSAHWQQPDSSQQIQAITGNNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRYFGELLADLSRKNTDLYHCLLEHLQRIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLSTFSNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEELLASVRANNHQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPMLQAKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTSLLEEKDSLIKRQSEELSKLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQTIVIEKTEDKYTCP
uniprot
proteins
disease_involvement
DISEASE: Premature ovarian failure 2B (POF2B) [MIM:300604]: 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:16773570, ECO:0000269|PubMed:21940798, ECO:0000269|PubMed:34707299}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development. {ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798}.
uniprot
proteins
mass_dalton
68065
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15459172
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16773570
uniprot
proteins
pubmed
21940798
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
34707299
uniprot
proteins
sequence_length
589
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:21940798}.
uniprot
proteins