MOS
entrez
4342
canonical
uniprot
P00540
canonical
ensembl
ENSG00000172680
resolver
ensp
ENSP00000310722
resolver
enst
ENST00000311923
resolver
genesymbol
MOS
resolver
hgnc
HGNC:7199
resolver
uniprot
Q3KPG9
resolver
uniprot
Q3KPH0
resolver
uniprot_entry
MOS_HUMAN
resolver
uniprot_sec
Q3KPG9
resolver
uniprot_sec
Q3KPH0
resolver
amino_acid_sequence
MPSPLALRPYLRSEFSPSVDARPCSSPSELPAKLLLGATLPRAPRLPRRLAWCSIDWEQVCLLQRLGAGGFGSVYKATYRGVPVAIKQVNKCTKNRLASRRSFWAELNVARLRHDNIVRVVAASTRTPAGSNSLGTIIMEFGGNVTLHQVIYGAAGHPEGDAGEPHCRTGGQLSLGKCLKYSLDVVNGLLFLHSQSIVHLDLKPANILISEQDVCKISDFGCSEKLEDLLCFQTPSYPLGGTYTHRAPELLKGEGVTPKADIYSFAITLWQMTTKQAPYSGERQHILYAVVAYDLRPSLSAAVFEDSLPGQRLGDVIQRCWRPSAAQRPSARLLLVDLTSLKAELG
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383]: An autosomal recessive, female infertility disorder characterized by early embryonic arrest and fragmentation. Early embryo fragmentation is defined by the presence of anucleate cell fragments derived from the blastomeres. Excessive embryo fragmentation is associated with deleterious outcomes, including decreased implantation rate. {ECO:0000269|PubMed:34779126, ECO:0000269|PubMed:34997960, ECO:0000269|PubMed:35670744, ECO:0000269|PubMed:36403623}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Serine/threonine kinase involved in the regulation of MAPK signaling. Is an activator of the ERK1/2 signaling cascade playing an essential role in the stimulation of oocyte maturation. {ECO:0000269|PubMed:34779126, ECO:0000269|PubMed:34997960, ECO:0000269|PubMed:35670744}.
uniprot
proteins
mass_dalton
37820
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
Ser/Thr protein kinase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
34779126
uniprot
proteins
pubmed
34997960
uniprot
proteins
pubmed
35670744
uniprot
proteins
pubmed
36403623
uniprot
proteins
pubmed
6287464
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:35670744}.
uniprot
proteins