GALE and MUC1

		GALE	MUC1
Description		UDP-galactose-4-epimerase	mucin 1, cell surface associated
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GO Annotations	Cellular Component	Cytosol	Chromatin Extracellular Region Extracellular Space Nucleus Cytoplasm Golgi Lumen Plasma Membrane Membrane Apical Plasma Membrane Vesicle Extracellular Exosome
	Molecular Function	UDP-N-acetylglucosamine 4-epimerase Activity UDP-glucose 4-epimerase Activity Isomerase Activity Identical Protein Binding Protein Homodimerization Activity	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding P53 Binding Transcription Coregulator Activity Protein Binding
	Biological Process	Galactose Metabolic Process Galactose Catabolic Process Galactose Catabolic Process Via UDP-galactose, Leloir Pathway	Negative Regulation Of Transcription By Competitive Promoter Binding DNA Damage Response, Signal Transduction By P53 Class Mediator Mitotic G1 DNA Damage Checkpoint Signaling Negative Regulation Of Cell Adhesion Mediated By Integrin Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage By P53 Class Mediator
Pathways		Defective GALE causes EDG Galactose catabolism	Defective GALNT3 causes HFTC Defective C1GALT1C1 causes TNPS Defective GALNT12 causes CRCS1 Dectin-2 family Interleukin-4 and Interleukin-13 signaling O-linked glycosylation of mucins Termination of O-glycan biosynthesis Developmental Lineage of Mammary Gland Luminal Epithelial Cells Developmental Lineage of Mammary Gland Alveolar Cells
Drugs		Uridine diphosphate glucose Uridine-Diphosphate-N-Acetylgalactosamine UDP-alpha-D-glucuronic acid Tetramethylammonium Uridine-Diphosphate-N-Acetylglucosamine Galactose-uridine-5'-diphosphate	TG4010
Diseases		Galactosemia
GWAS			Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (min-P) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Cortical thickness (min-P) ( 32665545) Cortical thickness (MOSTest) ( 32665545) Crohn's disease ( 21102463 28067908) Estimated glomerular filtration rate ( 31015462) Gastric adenocarcinoma (histologically verified) ( 26098866) Gastric cancer ( 26098866 26129866 31383772) Gout ( 31578528) Inflammatory bowel disease ( 28067908) Magnesium levels ( 26058915 25886283 20700443) Non-cardia gastric cancer ( 26701879) Serum magnesium levels ( 29093028) Serum uric acid levels ( 30993211 29403010) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Urinary albumin-to-creatinine ratio ( 26631737) Urinary albumin-to-creatinine ratio in non-diabetics ( 26631737)
Interacting Genes		1 interacting genes: APP	143 interacting genes: ABL1 ADAM33 ADGRB3 ADIPOQ ANKRD46 APC APOA2 APP AQP1 AQP2 AQP3 ARV1 ATM BCL2L2 BMI1 BRICD5 BTN2A2 C14orf180 C1GALT1 C2 C2CD2L C3orf52 CACNG1 CCDC167 CD47 CD53 CD68 CLDN19 CLDN6 CLDND2 CMTM7 COL8A2 CSGALNACT2 CTNNB1 CTNND1 CTSA CXCL16 CXCL9 CYB5B CYP4F2 EDDM3B EGFR EMC6 EMP3 ENTPD3 ERBB2 ERBB3 ERBB4 ERG28 ESR1 EZH2 GALNT1 GALNT10 GALNT12 GALNT15 GALNT2 GALNT4 GAST GDNF GOLT1B GPR108 GRB2 GSK3B H2AX HHATL HSP90AA1 HSPA4 ICMT INSIG2 ITGAM JUP LCK LPAR3 LYN MAL2 MALL MARCHF2 MIP MYADM NDUFA3 NEU1 NINJ1 NINJ2 NKG7 NUP62 OR10AG1 OSGEP PAQR6 PLN PLP1 PLP2 PLPP6 PNLIPRP1 PPARG PPIF PRKCD RFT1 RHD RTP2 SCAMP5 SEC22B SELENOK SERP2 SFTPC SIGLEC1 SLC22A1 SLC30A8 SLC35B4 SLC35E4 SLC38A7 SLC61A1 SMCO4 SMIM1 SOS1 SRC TECR THBD TM6SF2 TMEM11 TMEM120B TMEM121 TMEM128 TMEM147 TMEM14A TMEM14C TMEM187 TMEM218 TMEM229B TMEM243 TMEM86A TMEM86B TMEM97 TMEM98 TNFRSF10B TP53 TRAM1L1 TWIST1 UNC50 VAMP5 VKORC1 YIPF6 ZAP70 ZDHHC21
Entrez ID		2582	4582
HPRD ID		06092	01152
Ensembl ID		ENSG00000117308	ENSG00000185499
Uniprot IDs		A0A384NL38 Q14376	A0A087X0L2 A0A0A0MRB3 A0A0C4DGW3 A0A384NPK6 A5YRU5 A5YRU7 A5YRV0 A5YRV2 A6ZID6 A6ZID7 A6ZIE4 A6ZIE6 B6ECB3 P15941 Q7Z538 Q7Z551
PDB IDs		1EK5 1EK6 1HZJ 1I3K 1I3L 1I3M 1I3N	1SM3 2ACM 2FO4 5T6P 5T78 6FZQ 6FZR 6KX1 6TGG 7Q4I 7V4W 7V64 7V7K 7V8Q 7VAC 7VAZ 8AXH 8P6I
Enriched GO Terms of Interacting Partners?		Acetylcholine Receptor Activator Activity Amyloid-beta Complex PTB Domain Binding Growth Cone Lamellipodium Collateral Sprouting In Absence Of Injury Regulation Of Protein Import Regulation Of Response To Calcium Ion Golgi Lumen Recycling Endosome Amylin Binding Regulation Of Intrinsic Apoptotic Signaling Pathway Endosome To Plasma Membrane Transport Vesicle Positive Regulation Of Toll Signaling Pathway Positive Regulation Of Endothelin Production Positive Regulation Of Endocytosis Growth Cone Filopodium Lipoprotein Particle Phospholipase D-activating G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Protein Import Microglia Development Positive Regulation Of G Protein-coupled Receptor Internalization Positive Regulation Of ERK1 And ERK2 Cascade Positive Regulation Of Immune Complex Clearance By Monocytes And Macrophages Positive Regulation Of Antifungal Innate Immune Response Regulation Of Immune Complex Clearance By Monocytes And Macrophages Positive Regulation Of Phagosome Maturation Regulation Of Phagosome Maturation Response To Norepinephrine Regulation Of Endoplasmic Reticulum Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Cellular Response To Norepinephrine Stimulus Astrocyte Activation Involved In Immune Response Low-density Lipoprotein Particle Mediated Signaling Phagolysosome Positive Regulation Of Phospholipase Activity Intermediate-density Lipoprotein Particle Regulation Of ERK1 And ERK2 Cascade Axon Midline Choice Point Recognition Positive Regulation Of Amyloid Fibril Formation Growth Factor Receptor Binding Main Axon Regulation Of Spontaneous Synaptic Transmission NMDA Selective Glutamate Receptor Signaling Pathway Regulation Of Synapse Structure Or Activity Regulation Of Toll Signaling Pathway Regulation Of Endocytosis Negative Regulation Of Cell Adhesion Axon Choice Point Recognition Heparan Sulfate Binding Signaling Receptor Activator Activity Positive Regulation Of Lipase Activity	Membrane Polypeptide N-acetylgalactosaminyltransferase Activity Epidermal Growth Factor Receptor Signaling Pathway Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane ERBB Signaling Pathway Ephrin Receptor Binding Protein Tyrosine Kinase Activity Regulation Of Transport Positive Regulation Of Protein Localization Protein O-linked Glycosylation Via N-acetyl-galactosamine Leukocyte Activation Cellular Response To Oxygen-containing Compound Golgi Membrane Positive Regulation Of Transport ERBB2 Signaling Pathway Glial Cell Development Non-membrane Spanning Protein Tyrosine Kinase Activity Cell-cell Junction Response To Lipid Protein Binding Regulation Of Immune System Process Positive Regulation Of Multicellular Organismal Process Cell Migration Water Channel Activity Peptidyl-tyrosine Phosphorylation Cell Activation Apoptotic Signaling Pathway Regulation Of Protein Localization Protein O-linked Glycosylation Protein Tyrosine Kinase Activator Activity Fc Receptor Signaling Pathway Positive Regulation Of Cell Adhesion Fc-gamma Receptor Signaling Pathway Basolateral Plasma Membrane Regulation Of Cell-cell Adhesion Immune Response-activating Cell Surface Receptor Signaling Pathway Perinuclear Region Of Cytoplasm Regulation Of Fibroblast Proliferation Lymphocyte Activation Regulation Of Multicellular Organismal Process Golgi Apparatus Regulation Of Cell Activation Renal Water Homeostasis Schwann Cell Development Positive Regulation Of Protein Localization To Centrosome Glycerol Transmembrane Transport Protein Phosphatase Binding Myelination
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