ABCD4

Gene Name		ATP-binding cassette, sub-family D (ALD), member 4
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Lysosomal Membrane Peroxisome Peroxisomal Membrane Endoplasmic Reticulum Membrane Integral Component Of Membrane ATP-binding Cassette (ABC) Transporter Complex
	Molecular Function	ATP Binding ATPase Activity, Coupled To Transmembrane Movement Of Substances
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Cobalamin Metabolic Process Small Molecule Metabolic Process Transmembrane Transport
Pathways		Metabolism of vitamins and cofactors Defective GIF causes intrinsic factor deficiency Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Orphan transporters Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs
Diseases
GWAS
Protein-protein Interactions		4 interactors: DLEU1 PEA15 SARAF XRCC6
Entrez ID		5826
HPRD ID		04446
Ensembl ID		ENSG00000119688
Uniprot IDs		F8W7M4 O14678
PDB IDs
Enriched GO Terms of Interacting Partners?		Cellular Hyperosmotic Salinity Response Cellular Response To X-ray Establishment Of Integrated Proviral Latency Establishment Of Viral Latency Cellular Hyperosmotic Response Hyperosmotic Salinity Response Negative Regulation Of Glucose Import Cellular Response To Salt Stress DNA Ligation Negative Regulation Of Glucose Transport Regulation Of Store-operated Calcium Entry Double-strand Break Repair Via Nonhomologous End Joining Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Hyperosmotic Response Negative Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors V(D)J Recombination Cellular Response To DNA Damage Stimulus Cellular Response To Osmotic Stress Response To X-ray Response To Salt Stress Response To Morphine Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Cellular Response To Ionizing Radiation
Tagcloud ?		b12 biophysical coa cofactor crosslinking detergent dilution homodimers impairing inactivating lmbd1 lmbrd1 lysosomal mals methionine methylmalonyl milieu mmachc mutase nanomolar plasmon protecting scattering sec solubilized spr vectorial vitamin whereby