Reactome: A Curated Pathway Database
Found 147 matches:
as
An anchoring protein ZFYVE9 (SARA) does not recruit SMAD2/3 to TGFB1:TGFBR2:p-TGFBR1 KD Mutants
APC truncation mutants are not K63 polyubiquitinated
APC truncation mutants have impaired AXIN binding
AXIN mutants destabilize the destruction complex
CTNNB1 S33 mutants aren't phosphorylated by GSK3beta
CTNNB1 S37 mutants aren't phosphorylated by GSK3beta
CTNNB1 S45 mutants aren't phosphorylated by CK1alpha
CTNNB1 T41 mutants aren't phosphorylated by GSK3beta
Defective ABCA4 does not transport atRAL or NRPE from disc membranes
Defective ACTH does not bind MCR2
Defective ACY1 does not hydrolyse mercapturic acids
Defective AHCY does not hydrolyse AdoHcy
Defective ALDOB does not cleave Fru 1-P to GA and DHAP
Defective ALG1 does not transfer the first Man to the N-glycan precursor
Defective ALG11 does not transfer Man to the N-glycan precursor
Defective ALG12 does not add mannose to the N-glycan precursor
Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP
Defective ALG2 does not transfer a second Man to N-glycan precursor
Defective ALG3 does not add mannose to the N-glycan precursor
Defective ALG6 does not add glucose to the N-glycan precursor
Defective ALG8 does not add glucose to the N-glycan precursor
Defective ALG9 does not add mannose to the N-glycan precursor
Defective AMN does not transport GIF:Cbl
Defective ARSB does not hydrolyse sulfate from GalNAc4S
Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker
Defective B4GALT1 does not add Gal to N-glycan
Defective B4GALT1 does not transfer Gal to keratan substrates
Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
Defective CD320 does not transport extracellular TCII:Cbl to endosome
Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS
Defective CHST3 does not transfer SO4(2-) to chondroitin
Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG
Defective CHSY1 does not transfer GalNAc to chondroitin
Defective CHSY1 does not transfer GlcA to chondroitin
Defective CUBN does not transport GIF:Cbl
Defective CYP11A1 does not cleave 20a,22b-DHCHOL
Defective CYP11B1 does not oxidise 11DCORT
Defective CYP11B2 does not oxidise 11DCORST
Defective CYP17A1 does not convert PREG, P4 or 17aHPROG to their products
Defective CYP19A1 does not convert ANDST to E1
Defective CYP1B1 does not 4-hydroxylate EST17b
Defective CYP21A2 does not 21-hydroxylate PROG
Defective CYP24A1 does not 24-hydroxylate CALTOL
Defective CYP26B1 does not 4-hydroxylate atRA
Defective CYP26C1 does not 4-hydroxylate 9cRA
Defective CYP27A1 does not 27-hydroxylate CHOLTRIOLs
Defective CYP27B1 does not hydroxylate CDL
Defective CYP2R1 does not 25-hydroxylate vitamin D
Defective CYP2U1 does not omega-hydroxylate ARA
Defective CYP4F22 does not 20-hydroxylate TrXA3
Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
Defective DPAGT1 does not transfer GlcNAc to DOLP
Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease)
Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan
Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to heparan
Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan
Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan
Defective extracellular BTD does not hydrolyse BCTN
Defective FMO3 does not N-oxidise TMA
Defective GALNS does not hydrolyse sulfate from Gal6S
Defective GCLC does not ligate L-Glu to L-Cys
Defective GGT1 does not hydrolyse GSH or its conjugates
Defective GIF does not bind Cbl
Defective GLB1 does not hydrolyse Gal
Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S
Defective GSS does not synthesize GSH
Defective GUSB does not hydrolyse glucuronate
Defective HGSNAT does not acetylate GlcN
Defective HLCS does not biotinylate apo-CBXs
Defective HYAL1 does not hydrolyse 1-4-linkages between GlcNAc and GlcA
Defective IDS does not hydrolyse sulfates from Lido
Defective IDUA does not hydrolyse Lido
Defective IKBKB (IKK2) does not form a complex with IKBKA and IKBKG
Defective IRAK4 does not bind MyD88 within the TLR2/4 complex
Defective IRAK4 does not form a complex with MyD88 within the TLR5 complex
Defective KHK does not phosphorylate beta-D-fructose
Defective LCT does not hydrolyze Lac
Defective LMBRD1 does not transport lysosomal Cbl to cytosol
Defective LRAT does not esterify atROL and PALM to RPALM
Defective MAN1B1 does not cleave mannose from unfolded N-glycosylated proteins
Defective MAOA does not oxidatively deaminate 5HT
Defective MAT1A does not transfer Ado from ATP to L-Met
Defective MGAT2 does not transfer GlcNAc to N-glycans
Defective mitochondrial BTD does not hydrolyse BCTN
Defective MMAA does not protect MUT
Defective MMAB does not transfer adenosyl group from ATP to B12s
Defective MMACHC does not decyanate CNCbl
Defective MMACHC does not reduce Cbl
Defective MMADHC does not bind MMACHC:B12r
Defective MOGS does not cleave glucose from an N-glycosylated protein
Defective MPDU1 does not promote utilisation of DOLPman
Defective MTR does not transfer CH3 group from MeCbl to HCYS
Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin
Defective MTRR does not convert cob(II)alamin to MeCbl
Defective MUT does not isomerise L-MM-CoA to SUCC-CoA
Defective MyD88 does not bind MAL(TIRAP):TLR2/4
Defective MyD88 does not form a complex with IRAK4 via TLR2/4
Defective MyD88 does not form a complex with IRAK4 via TLR5
Defective NAGLU does not hydrolyse GlcNAc
Defective NHLRC1 does not ubiquitinate EPM2A (laforin) and PPP1R3C (PTG) (type 2B disease)
Defective OPLAH does not hydrolyse OPRO
Defective OPN1LW causes BCM
Defective OPN1LW causes CBP
Defective OPN1MW causes COD5
Defective OPN1MW causes DCB and BCM
Defective OPN1SW causes tritanopia
Defective PAH does not hydroxylate L-Phe to L-Tyr
Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS
Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS
Defective RBP4 does not bind atROL
Defective RDH12 does not reduce atRAL to atROL and causes LCA13
Defective RDH12 does not reduce atRAL to atROL and causes RP53
Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA
Defective RFT1 does not flip the N-glycan precursor
Defective SGSH does not hydrolyse sulfates from SGlcN
Defective SI does not hydrolyze iMal
Defective SI does not hydrolyze Mal
Defective SI does not hydrolyze maltotriose
Defective SI does not hydrolyze Suc
Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol
Defective SLC35D1 does not transport UDP-GlcA, UDPGlcNAc
Defective STRA6 does not transport atROL
Defective TBXAS1 does not isomerise PGH2 to TXA2
Defective TCII does not bind Cbl in the circulation
Defective TLR3 does not bind viral dsRNA
Defective TRAF3 does not transmit the signal
Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL or BMG
Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL or BMG
Defective UNC93B1 does not bind TLR3
deletions in the AXIN1 gene prevent expression of AXIN1 protein
deletions of the AMER1 gene prevent expression of AMER1 protein
EGFRvIII does not bind CBL
HPE SHH variants don't undergo autoproteolytic cleavage
IkBA variant is not phosphorylated within IkBA:NF-kappaB
IKK complex with defective IKBKG (NEMO) does not phosphorylate IkB within IkB:NF-kappaB (via TLR)
Inefficient ubiquitination of ligand-responsive p-6Y-EGFR mutants by p-Y371-CBL
IRAK4 deficiency blocks formation of the MyD88-IRAK4 Myddosome in the TLR5 pathway
IRAK4 deficiency blocks formation of the MyD88-IRAK4 Myddosome in TLR2/4 pathway
misspliced GSK3beta mutants stabilize beta-catenin levels
misspliced mutants of LRP5 support enhanced beta-catenin-dependent signaling
PTEN cancer mutants do not dephosphorylate PIP3
RNF43 frameshift mutants show enhanced WNT siganling
TFC7L2 mutants don't bind CTBP
TGFBR2 does not recruit TGFBR1 LBD Mutants
TICAM1 deficiency blocks TLR3 pathway
TPMT does not transfer CH3 from AdoMet to 6MP
truncated AMER1 mutants destabilize the destruction complex