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MMADHC and PRNP
Data Source:
BioGRID
(two hybrid)
MMADHC
PRNP
Description
metabolism of cobalamin associated D
prion protein
Image
GO Annotations
Cellular Component
Cytoplasm
Mitochondrion
Cytosol
Nucleus
Cytoplasm
Endoplasmic Reticulum
Golgi Apparatus
Cytosol
Plasma Membrane
Cell Surface
Postsynaptic Density
Inclusion Body
Extrinsic Component Of Membrane
Dendrite
Anchored Component Of External Side Of Plasma Membrane
Nuclear Membrane
Intracellular Membrane-bounded Organelle
Membrane Raft
Extracellular Exosome
Postsynapse
Molecular Function
Protein Binding
Amyloid-beta Binding
Protease Binding
Copper Ion Binding
Calcium Ion Binding
Protein Binding
Glycosaminoglycan Binding
Microtubule Binding
Tubulin Binding
Aspartic-type Endopeptidase Inhibitor Activity
Type 5 Metabotropic Glutamate Receptor Binding
Type 8 Metabotropic Glutamate Receptor Binding
Signaling Receptor Activity
Identical Protein Binding
Protein-containing Complex Binding
Cuprous Ion Binding
Biological Process
Cobalamin Metabolic Process
Negative Regulation Of Protein Phosphorylation
Cellular Copper Ion Homeostasis
Response To Oxidative Stress
Cell Cycle Arrest
Learning Or Memory
Long-term Memory
Negative Regulation Of Endopeptidase Activity
Negative Regulation Of Protein Processing
Protein Destabilization
Negative Regulation Of Interferon-gamma Production
Negative Regulation Of Interleukin-17 Production
Negative Regulation Of Interleukin-2 Production
Calcium-mediated Signaling Using Intracellular Calcium Source
Negative Regulation Of DNA-binding Transcription Factor Activity
Positive Regulation Of Neuron Apoptotic Process
Negative Regulation Of Activated T Cell Proliferation
Regulation Of Peptidyl-tyrosine Phosphorylation
Positive Regulation Of Peptidyl-tyrosine Phosphorylation
Negative Regulation Of T Cell Receptor Signaling Pathway
Protein Homooligomerization
Positive Regulation Of Protein Tyrosine Kinase Activity
Negative Regulation Of Calcineurin-NFAT Signaling Cascade
Cellular Response To Copper Ion
Positive Regulation Of Protein Targeting To Membrane
Modulation Of Age-related Behavioral Decline
Dendritic Spine Maintenance
Regulation Of Glutamate Receptor Signaling Pathway
Positive Regulation Of Neuron Death
Negative Regulation Of Amyloid-beta Formation
Regulation Of Intracellular Calcium Activated Chloride Channel Activity
Negative Regulation Of Dendritic Spine Maintenance
Negative Regulation Of Amyloid Precursor Protein Catabolic Process
Response To Amyloid-beta
Cellular Response To Amyloid-beta
Regulation Of Calcium Ion Import Across Plasma Membrane
Neuron Projection Maintenance
Pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
NCAM1 interactions
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Drugs
Tetracycline
Copper
Diseases
Methylmalonic aciduria (MMA)
Prion diseases; Creutzfeldt-Jacob disease (CJD); Gerstmann-Straussler disease (GSD); Gerstmann-Straussler-Scheinker disease (GSSD); Fatal familial insomnia (FFI)
GWAS
Daytime sleep phenotypes (
27126917
)
Liver enzyme levels (alanine transaminase) (
24124411
)
Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) (
32047095
)
Creutzfeldt-Jakob disease (
19081515
)
Creutzfeldt-Jakob disease (sporadic) (
32949544
25918841
)
Creutzfeldt-Jakob disease (variant) (
22137330
)
KANNO antigen negativity (
31020675
)
Platelet aggregation (
20526338
)
Prion diseases (
22210626
)
Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) (
28443625
)
Waist circumference adjusted for BMI (smoking interaction) (
28443625
)
Interacting Genes
6 interacting genes:
CINP
CREB5
MMACHC
POU4F2
PRNP
TBC1D7
96 interacting genes:
ABT1
ADAM23
ADAP2
ADRB2
AGO1
AIFM3
APBB1
APLP1
APLP2
APOE
ARHGAP15
ATIC
BAG6
BAZ2B
C7orf50
CAV1
CCDC149
CCR1
CIRBP
CLSTN1
CLU
CNP
CNTN1
CRYAB
CSN3
CSNK2A1
CSNK2A2
CSNK2B
CWC15
DDX47
DNM1
DOCK7
DPP6
DYRK3
ERI3
F2RL1
FAM27E3
FBLN5
FBXO45
FGF13
FHL1
FZD7
GRB2
HAX1
HSPA5
HSPD1
IER3
KIAA1191
KIFAP3
L1CAM
LMNA
LSAMP
MAG
MARK4
MMADHC
MOG
MTG1
NCAM1
NCAM2
NECTIN1
NHP2
NIPSNAP2
NOB1
OPCML
P4HB
PDE4DIP
PLG
PPFIBP2
PPP1R14A
PSMA3
PSMB5
PTAFR
PTRH1
PYM1
RBM22
RNPC3
RPL41
SCNM1
SEC31A
SPARCL1
STARD5
STIP1
SURF2
TBPL1
TMEM237
TRIM15
TSC22D4
TSLP
TYMSOS
UTP4
WDR5
WDR61
ZFYVE28
ZKSCAN8
ZNF408
ZNF740
Entrez ID
27249
5621
HPRD ID
10781
01453
Ensembl ID
ENSG00000168288
ENSG00000171867
Uniprot IDs
Q9H3L0
F7VJQ1
P04156
Q53YK7
PDB IDs
5CUZ
5CV0
6X8Z
1E1G
1E1J
1E1P
1E1S
1E1U
1E1W
1FKC
1FO7
1H0L
1HJM
1HJN
1I4M
1OEH
1OEI
1QLX
1QLZ
1QM0
1QM1
1QM2
1QM3
2IV4
2IV5
2IV6
2K1D
2KUN
2LBG
2LEJ
2LFT
2LSB
2LV1
2M8T
2OL9
2W9E
3HAF
3HAK
3HEQ
3HER
3HES
3HJ5
3HJX
3MD4
3MD5
3NHC
3NHD
3NVF
4DGI
4E1H
4E1I
4KML
4N9O
5L6R
5YJ4
5YJ5
6DU9
6LNI
6PQ5
6PQA
6SUZ
6SV2
6UUR
Enriched GO Terms of Interacting Partners
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