M3K1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MAP3K1
, MAPKKK1, MEKK, MEKK1
Protein names and data:
M3K1_HUMAN
, Mitogen-activated protein kinase kinase kinase 1; 2.7.11.25
, MAPK/ERK kinase kinase 1; MEK kinase 1; MEKK 1
Lenght: 1512 a.a.
Mass: 164470 Da
fasta formatted sequence
Function:
Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway.
Catalytic activity:
ATP + a protein = ADP + a phosphoprotein.
Disease:
( OMIM:
600982
613762
)
46,XY sex reversal 6 (SRXY6) [MIM:613762]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
92 - 92
S -> N. VAR_040680
189 - 189
L -> P (in SRXY6; increases phosphorylation of the downstream target MAPK3/MAPK1 compared to wild-type and enhances binding of RHOA to the mutant MAP3K1 complex). VAR_065504
189 - 189
L -> R (in SRXY6; increases phosphorylation of the downstream targets MAPK14 and MAPK3/MAPK1 compared to wild- type and enhances binding of RHOA to the mutant MAP3K1 complex). VAR_065505
211 - 211
V -> VIQ (in SRXY6). VAR_065506
443 - 443
C -> S. VAR_040681
616 - 616
G -> R (in SRXY6; dbSNP:rs143853590). VAR_065507
143853590
806 - 806
D -> N (in dbSNP:rs702689). VAR_051636
702689
906 - 906
V -> I (in dbSNP:rs832582). VAR_051637
832582
Database cross-references
UniProt:
Q13233
Ensembl:
ENST00000399503
MIM:
600982
MIM:
613762
neXtProt:
NX_Q13233
Antibodypedia:
Q13233
(may not find the protein thus also not any antibody)
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