NUP214 and POMT1

Data Source: HiPPIP (Novel)

		NUP214	POMT1
Name		nucleoporin 214	protein O-mannosyltransferase 1
Structure			No pdb structure
GO Annotations	Cellular Component	Nucleus Nuclear Envelope Nuclear Pore Nucleoplasm Cytosol Cytoplasmic Side Of Nuclear Pore	Acrosomal Vesicle Endoplasmic Reticulum Endoplasmic Reticulum Membrane Membrane Sarcoplasmic Reticulum Dolichyl-phosphate-mannose-protein Mannosyltransferase Complex
	Molecular Function	Nuclear Export Signal Receptor Activity Protein Binding Nuclear Localization Sequence Binding Structural Constituent Of Nuclear Pore	Mannosyltransferase Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Protein Binding Transferase Activity Glycosyltransferase Activity Metal Ion Binding
	Biological Process	RNA Export From Nucleus MRNA Export From Nucleus Protein Import Into Nucleus Protein Export From Nucleus Intracellular Protein Transport Nucleocytoplasmic Transport Protein Transport Regulation Of Nucleocytoplasmic Transport MRNA Transport Regulation Of Cell Cycle	Protein Glycosylation Protein O-linked Glycosylation Extracellular Matrix Organization Protein O-linked Glycosylation Via Mannose
Pathways		ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs IPs transport between nucleus and cytosol IP3 and IP4 transport between cytosol and nucleus IP6 and IP7 transport between cytosol and nucleus snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins HuR (ELAVL1) binds and stabilizes mRNA SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events SARS-CoV-2 activates/modulates innate and adaptive immune responses	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 DAG1 core M2 glycosylations DAG1 core M3 glycosylations DAG1 core M1 glycosylations Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
Diseases		None	Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD) Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
GWAS		Aspartate aminotransferase levels ( 31219225 )	No GWAS studies recorded
Interacting Genes		19 interacting genes: APC CLEC4G DDX19B IPO5 NUP107 NUP42 NUP88 NXF1 NXF2 SMAD2 SMAD3 SMAD4 SUMO2 TNPO1 TSG101 XPO1 XPO5 XPOT ZFP36	2 interacting genes: MEOX2 POMT2
Entrez ID		8021	10585
HPRD ID		00258	06305
Ensembl ID		ENSG00000126883	ENSG00000130714
Uniprot IDs		B7ZAV2 P35658	A0A140VKE0 A0A7I2V2K0 A0A7I2V445 B4DTW4 Q5JT02 Q9Y6A1
PDB IDs		2OIT 3FHC 3FMO 3FMP 5DIS 7R5J 7R5K	Not available
GO Terms Enriched among Interactors		RNA Transport Nuclear Transport Nucleocytoplasmic Transport RNA Export From Nucleus Nuclear Export Nucleobase-containing Compound Transport MRNA Transport Nuclear Pore MRNA Export From Nucleus Intracellular Transport Cellular Localization Establishment Of Localization In Cell Intracellular Protein Transport RNA Binding Nuclear Envelope Protein Transport SMAD Protein Complex Heteromeric SMAD Protein Complex Protein Localization To Nucleus Establishment Of Protein Localization Nuclear Export Signal Receptor Activity Primary MiRNA Processing Protein Import Into Nucleus Import Into Nucleus I-SMAD Binding Cytosol MRNA Binding Nuclear Localization Sequence Binding Structural Constituent Of Nuclear Pore Activin Responsive Factor Complex Paraxial Mesoderm Morphogenesis Post-transcriptional Tethering Of RNA Polymerase II Gene DNA At Nuclear Periphery Poly(A)+ MRNA Export From Nucleus Kinetochore SMAD Protein Signal Transduction R-SMAD Binding Nucleoplasm Activin Receptor Signaling Pathway Intracellular Protein Localization Establishment Of Protein Localization To Organelle Endoderm Development Protein Export From Nucleus MiRNA Processing Mesoderm Morphogenesis Pericardium Development Ribosomal Large Subunit Export From Nucleus Nucleus Trophoblast Cell Migration Ribosomal Small Subunit Export From Nucleus Transcription-dependent Tethering Of RNA Polymerase II Gene DNA At Nuclear Periphery	Cytoplasmic Side Of Nuclear Pore Somite Specification Reactive Gliosis Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Segment Specification Somite Development Nuclear Export Signal Receptor Activity Protein O-linked Glycosylation Via Mannose Neuroinflammatory Response Mannosyltransferase Activity Structural Constituent Of Nuclear Pore Nuclear Localization Sequence Binding