EFHD1

Description		EF-hand domain family member D1
Image		No pdb structure
GO Annotations	Cellular Component	Mitochondrion Mitochondrial Inner Membrane Membrane
	Molecular Function	Calcium Ion Binding Protein Binding Metal Ion Binding Calcium Ion Sensor Activity
	Biological Process	Neuron Projection Development Regulation Of Cellular Hyperosmotic Salinity Response
Pathways
Drugs
Diseases
GWAS		Alanine aminotransferase levels ( 34315874 33547301 33339817) Alanine transaminase levels ( 29403010) Aspartate aminotransferase levels ( 34315874 29403010 33547301) Coronary artery disease ( 32469254) Gamma glutamyl transferase levels ( 33339817 29403010) Liver enzyme levels (alanine transaminase) ( 33972514) Liver enzyme levels (gamma-glutamyl transferase) ( 22001757 33972514) Refractive error ( 32231278) Schizophrenia ( 30285260 29483656 25056061)
Novel Interacting Genes		1 novel interacting genes: RAB27B
Interacting Genes		1 interacting genes: PSEN1
Entrez ID		80303
HPRD ID		13265
Ensembl ID		ENSG00000115468
Uniprot IDs		Q8WYH2 Q9BUP0
PDB IDs
Enriched GO Terms of Interacting Partners?		Positive Regulation Of L-glutamate Import Across Plasma Membrane Sequestering Of Calcium Ion Skin Morphogenesis Endoplasmic Reticulum Calcium Ion Homeostasis Synaptic Vesicle Targeting Protein Catabolic Process At Postsynapse Regulation Of L-glutamate Import Across Plasma Membrane Amyloid Precursor Protein Catabolic Process Vesicle Targeting Myeloid Dendritic Cell Differentiation Regulation Of Receptor Recycling Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Membrane Protein Ectodomain Proteolysis Positive Regulation Of Receptor Recycling Neuron Projection Maintenance Regulation Of Amyloid Fibril Formation Brain Morphogenesis Endosome Smooth Endoplasmic Reticulum L-glutamate Import Across Plasma Membrane Amyloid-beta Metabolic Process Positive Regulation Of Amyloid Fibril Formation Regulation Of Synaptic Vesicle Cycle Choline Transport Cajal-Retzius Cell Differentiation Negative Regulation Of DNA Binding Ciliary Rootlet Amyloid-beta Formation Negative Regulation Of Core Promoter Binding Astrocyte Activation Regulation Of Resting Membrane Potential Gamma-secretase Complex Positive Regulation Of Amino Acid Transport Notch Receptor Processing Aspartic Endopeptidase Activity, Intramembrane Cleaving Growth Factor Receptor Binding Negative Regulation Of Transcription Regulatory Region DNA Binding Regulation Of Vesicle-mediated Transport Dorsal/ventral Neural Tube Patterning Import Into Cell Positive Regulation Of Glycolytic Process Positive Regulation Of Transport Aspartic-type Endopeptidase Activity Regulation Of Transcription Regulatory Region DNA Binding Astrocyte Activation Involved In Immune Response Amyloid Precursor Protein Metabolic Process Neural Retina Development Cerebral Cortex Neuron Differentiation Trans-Golgi Network Transport Vesicle Protein Transport Along Microtubule
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