PEF1

Description		penta-EF-hand domain containing 1
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GO Annotations	Cellular Component	Cytoplasm Endoplasmic Reticulum ER To Golgi Transport Vesicle Membrane Membrane COPII Vesicle Coat Cytoplasmic Vesicle Cul3-RING Ubiquitin Ligase Complex Extracellular Exosome
	Molecular Function	RNA Binding Calcium Ion Binding Protein Binding Identical Protein Binding Metal Ion Binding Protein Heterodimerization Activity Protein Dimerization Activity Calcium-dependent Protein Binding Ubiquitin-like Ligase-substrate Adaptor Activity
	Biological Process	Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Neural Crest Formation Neural Crest Cell Development COPII Vesicle Coating Response To Calcium Ion Positive Regulation Of Protein Monoubiquitination
Pathways
Drugs		Calcium citrate Calcium Phosphate Calcium phosphate dihydrate
Diseases
GWAS		Asthma ( 31959851) Body mass index ( 26426971) Cognitive ability ( 29186694) Cognitive ability (MTAG) ( 29186694) General cognitive ability ( 29844566) Hypoalbuminemia ( 34050200) Intelligence (MTAG) ( 29326435) Severe aortic features in Marfan syndrome ( 30087447)
Interacting Genes		40 interacting genes: AKAP8L ALG2 ANKRD10 BAG4 BPIFA1 CALCOCO2 CEP55 CFAP68 CTAG1A CTAG1B DAZAP2 DMRTB1 EIF4G1 EWSR1 FAM168A FOXR2 HEMK1 HGS HYDIN INCA1 KRTAP12-1 KRTAP15-1 KRTAP19-1 MED25 METTL15 NR0B2 PDCD6 SEC24A SEC31A SMUG1 SOHLH1 SPAG8 SPG21 STH TFG UBC USP9X VPS37C WWOX ZIC1
Entrez ID		553115
HPRD ID		10143
Ensembl ID		ENSG00000162517
Uniprot IDs		A0A384MQX5 Q9UBV8
PDB IDs		8RBH
Enriched GO Terms of Interacting Partners?		Endoplasmic Reticulum Exit Site COPII Vesicle Coat Protein Binding Endoplasmic Reticulum To Golgi Vesicle-mediated Transport
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