P00540 · MOS_HUMAN
- ProteinProto-oncogene serine/threonine-protein kinase mos
- GeneMOS
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids346 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
Catalytic activity
- ATP + L-seryl-[protein] = ADP + H+ + O-phospho-L-seryl-[protein]
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Molecular Function | ATP binding | |
Molecular Function | MAP kinase kinase kinase activity | |
Molecular Function | protein kinase activity | |
Molecular Function | protein serine kinase activity | |
Molecular Function | protein serine/threonine kinase activity | |
Biological Process | chromatin organization | |
Biological Process | establishment of meiotic spindle orientation | |
Biological Process | MAPK cascade | |
Biological Process | meiotic spindle organization | |
Biological Process | negative regulation of metaphase/anaphase transition of meiotic cell cycle | |
Biological Process | oocyte maturation | |
Biological Process | positive regulation of ERK1 and ERK2 cascade | |
Biological Process | positive regulation of MAPK cascade | |
Biological Process | protein autophosphorylation | |
Biological Process | regulation of meiotic nuclear division | |
Biological Process | signal transduction |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProto-oncogene serine/threonine-protein kinase mos
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP00540
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Oocyte/zygote/embryo maturation arrest 20 (OZEMA20)
- Note
- DescriptionAn 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.
- See alsoMIM:620383
Natural variants in OZEMA20
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088642 | 95 | N>K | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; results in severely decreased activation of the ERK1/ERK2 cascade; dbSNP:rs774064952 | |
VAR_088643 | 139 | M>T | in OZEMA20; uncertain significance; results in decreased activation of the ERK1/ERK2 cascade | |
VAR_088644 | 197 | I>M | in OZEMA20; uncertain significance | |
VAR_088645 | 199 | H>L | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm | |
VAR_088646 | 246 | R>H | in OZEMA20; uncertain significance; results in decreased activation of the ERK1/ERK2 cascade; dbSNP:rs1563357810 | |
VAR_088647 | 264 | S>C | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm | |
VAR_088648 | 292 | A>V | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; decreased activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm; dbSNP:rs1810519989 | |
VAR_088649 | 319 | R>H | in OZEMA20; likely pathogenic; results in decreased activation of the ERK1/ERK2 cascade | |
VAR_088650 | 320-346 | missing | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; severely decreased interaction with MAP2K1 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_088642 | 95 | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; results in severely decreased activation of the ERK1/ERK2 cascade; dbSNP:rs774064952 | |||
Sequence: N → K | ||||||
Natural variant | VAR_040813 | 96 | in dbSNP:rs34532635 | |||
Sequence: R → L | ||||||
Natural variant | VAR_040814 | 105 | in dbSNP:rs35392772 | |||
Sequence: A → S | ||||||
Natural variant | VAR_040815 | 123 | in a lung adenocarcinoma sample; somatic mutation | |||
Sequence: A → T | ||||||
Natural variant | VAR_088643 | 139 | in OZEMA20; uncertain significance; results in decreased activation of the ERK1/ERK2 cascade | |||
Sequence: M → T | ||||||
Natural variant | VAR_088644 | 197 | in OZEMA20; uncertain significance | |||
Sequence: I → M | ||||||
Natural variant | VAR_088645 | 199 | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm | |||
Sequence: H → L | ||||||
Natural variant | VAR_088646 | 246 | in OZEMA20; uncertain significance; results in decreased activation of the ERK1/ERK2 cascade; dbSNP:rs1563357810 | |||
Sequence: R → H | ||||||
Natural variant | VAR_088647 | 264 | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm | |||
Sequence: S → C | ||||||
Natural variant | VAR_088648 | 292 | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; decreased activation of the ERK1/ERK2 cascade; no effect on localization to cytoplasm; dbSNP:rs1810519989 | |||
Sequence: A → V | ||||||
Natural variant | VAR_040816 | 300 | in dbSNP:rs56300224 | |||
Sequence: S → P | ||||||
Natural variant | VAR_088649 | 319 | in OZEMA20; likely pathogenic; results in decreased activation of the ERK1/ERK2 cascade | |||
Sequence: R → H | ||||||
Natural variant | VAR_088650 | 320-346 | in OZEMA20; likely pathogenic; loss of function in oocyte maturation activation; loss of activation of the ERK1/ERK2 cascade; severely decreased interaction with MAP2K1 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 453 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000086344 | 1-346 | Proto-oncogene serine/threonine-protein kinase mos | |||
Sequence: MPSPLALRPYLRSEFSPSVDARPCSSPSELPAKLLLGATLPRAPRLPRRLAWCSIDWEQVCLLQRLGAGGFGSVYKATYRGVPVAIKQVNKCTKNRLASRRSFWAELNVARLRHDNIVRVVAASTRTPAGSNSLGTIIMEFGGNVTLHQVIYGAAGHPEGDAGEPHCRTGGQLSLGKCLKYSLDVVNGLLFLHSQSIVHLDLKPANILISEQDVCKISDFGCSEKLEDLLCFQTPSYPLGGTYTHRAPELLKGEGVTPKADIYSFAITLWQMTTKQAPYSGERQHILYAVVAYDLRPSLSAAVFEDSLPGQRLGDVIQRCWRPSAAQRPSARLLLVDLTSLKAELG |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in oocytes. Lower expression is detected in early embryo.
Developmental stage
Expression decreases after fertilization and is slightly increased in four-cell stage embryos. Expression gradually decreases from eight-cell to blastocyst embryos.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with MAP2K1/MEK1.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 60-341 | Protein kinase | ||||
Sequence: VCLLQRLGAGGFGSVYKATYRGVPVAIKQVNKCTKNRLASRRSFWAELNVARLRHDNIVRVVAASTRTPAGSNSLGTIIMEFGGNVTLHQVIYGAAGHPEGDAGEPHCRTGGQLSLGKCLKYSLDVVNGLLFLHSQSIVHLDLKPANILISEQDVCKISDFGCSEKLEDLLCFQTPSYPLGGTYTHRAPELLKGEGVTPKADIYSFAITLWQMTTKQAPYSGERQHILYAVVAYDLRPSLSAAVFEDSLPGQRLGDVIQRCWRPSAAQRPSARLLLVDLTSL |
Sequence similarities
Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length346
- Mass (Da)37,820
- Last updated1986-07-21 v1
- Checksum68B1AB906ED4B308
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
J00119 EMBL· GenBank· DDBJ | AAA52029.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC069569 EMBL· GenBank· DDBJ | AAH69569.1 EMBL· GenBank· DDBJ | mRNA | ||
BC069590 EMBL· GenBank· DDBJ | AAH69590.1 EMBL· GenBank· DDBJ | mRNA | ||
BC106737 EMBL· GenBank· DDBJ | AAI06738.1 EMBL· GenBank· DDBJ | mRNA | ||
BC106738 EMBL· GenBank· DDBJ | AAI06739.1 EMBL· GenBank· DDBJ | mRNA |