RBCC Red Blood Cell Collection

KS6A3_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: RPS6KA3 , ISPK1, MAPKAPK1B, RSK2
Protein names and data: KS6A3_HUMAN , Ribosomal protein S6 kinase alpha-3; S6K-alpha-3; 2.7.11.1 , 90 kDa ribosomal protein S6 kinase 3; p90-RSK 3; p90RSK3; Insulin-stimulated protein kinase 1; ISPK-1; MAP kinase-activated protein kinase 1b; MAPK-activated protein kinase 1b; MAPKAP kinase 1b; MAPKAPK-1b; Ribosomal S6 kinase 2; RSK-2; pp90RSK2 Lenght: 740 a.a.
Mass: 83736 Da
fasta formatted sequence
Function: Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR- independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Is involved in the mTOR nutrient-sensing pathway by directly phosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2 ability to suppress mTOR signaling, and mediates phosphorylation of RPTOR, which regulates mTORC1 activity and may promote rapamycin-sensitive signaling independently of the PI3K/AKT pathway. Mediates cell survival by phosphorylating the pro- apoptotic proteins BAD and DAPK1 and suppressing their pro- apoptotic function. Promotes the survival of hepatic stellate cells by phosphorylating CEBPB in response to the hepatotoxin carbon tetrachloride (CCl4). Is involved in cell cycle regulation by phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1B association with 14-3-3 proteins and prevents its translocation to the nucleus and inhibition of G1 progression. In LPS-stimulated dendritic cells, is involved in TLR4-induced macropinocytosis, and in myeloma cells, acts as effector of FGFR3-mediated transformation signaling, after direct phosphorylation at Tyr-529 by FGFR3. Phosphorylates DAPK1.
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.
Disease: ( OMIM: 300075 300844 303600 ) Coffin-Lowry syndrome (CLS) [MIM:303600]: A X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. Note=The disease is caused by mutations affecting the gene represented in this entry. Mental retardation, X-linked 19 (MRX19) [MIM:300844]: A non-syndromic form of mild to moderate mental retardation. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus (By similarity). Cytoplasm (By similarity).
Tissue specificity: Expressed in many tissues, highest levels in skeletal muscle.

Genetic variants

38 - 38 I -> S (in dbSNP:rs56218010). VAR_006188 56218010
75 - 75 G -> V (in CLS). VAR_006189
82 - 82 V -> F (in CLS). VAR_006190
114 - 114 R -> W (in CLS). VAR_006191
115 - 115 T -> S (in MRX19). VAR_065892
127 - 127 H -> Q (in CLS). VAR_006192
152 - 152 Missing (in MRX19). VAR_065893
154 - 154 D -> Y (in CLS). VAR_006193
189 - 189 I -> K (in CLS). VAR_065894
202 - 202 Missing (in MRX19). VAR_065895
225 - 225 A -> V (in CLS). VAR_006194
227 - 227 S -> A (in CLS). VAR_006195
268 - 268 F -> S (in CLS). VAR_065896
383 - 383 R -> W (in MRX19; kinase activity is decreased but not abolished). VAR_065897
416 - 416 I -> V (in a breast cancer sample; somatic mutation). VAR_035627
431 - 431 G -> D (in CLS). VAR_006196
477 - 477 Missing (in CLS). VAR_065898
483 - 483 Y -> C (in a gastric adenocarcinoma sample; somatic mutation). VAR_040629
608 - 608 L -> F (in a glioblastoma multiforme sample; somatic mutation). VAR_040630
723 - 723 R -> C (in dbSNP:rs35026425). VAR_040631 35026425
729 - 729 R -> Q (in CLS; dbSNP:rs28935171). VAR_006197 28935171

Database cross-references

UniProt: P51812
Ensembl: ENST00000379565
MIM: 300075
MIM: 300844
MIM: 303600
neXtProt: NX_P51812
Antibodypedia: P51812 (may not find the protein thus also not any antibody)
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