BCS1L and SLC29A1

		BCS1L	SLC29A1
Description		BCS1 ubiquinol-cytochrome c reductase complex chaperone	solute carrier family 29 member 1 (Augustine blood group)
Image		No pdb structure
GO Annotations	Cellular Component	Mitochondrion Mitochondrial Inner Membrane Membrane Respiratory Chain Complex III	Plasma Membrane Membrane Basolateral Plasma Membrane Apical Plasma Membrane Presynapse Postsynapse
	Molecular Function	Nucleotide Binding Protein Binding ATP Binding Hydrolase Activity ATP Hydrolysis Activity	Neurotransmitter Transmembrane Transporter Activity Nucleoside Transmembrane Transporter Activity Adenine Transmembrane Transporter Activity Guanine Transmembrane Transporter Activity Uracil Transmembrane Transporter Activity Purine Nucleoside Transmembrane Transporter Activity Cytidine Transmembrane Transporter Activity Uridine Transmembrane Transporter Activity Pyrimidine- And Adenosine-specific:sodium Symporter Activity
	Biological Process	Mitochondrion Organization Protein Insertion Into Mitochondrial Inner Membrane From Matrix Mitochondrial Respiratory Chain Complex I Assembly Mitochondrial Cytochrome C Oxidase Assembly Mitochondrial Respiratory Chain Complex III Assembly	Neurotransmitter Uptake Nucleobase-containing Compound Metabolic Process Xenobiotic Metabolic Process Neurotransmitter Transport Xenobiotic Transmembrane Transport Lactation Nucleobase Transport Adenine Transport Nucleoside Transport Purine Nucleoside Transmembrane Transport Cytidine Transport Uridine Transmembrane Transport Adenosine Transport Inosine Transport Hypoxanthine Transport Thymine Transport Excitatory Postsynaptic Potential Cellular Response To Glucose Stimulus Cellular Response To Hypoxia Pyrimidine-containing Compound Transmembrane Transport Transport Across Blood-brain Barrier Nucleoside Transmembrane Transport Guanine Transmembrane Transport Uracil Transmembrane Transport Pyrimidine Nucleobase Transmembrane Transport Purine Nucleobase Transmembrane Transport
Pathways		Mitochondrial protein import Complex III assembly	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Azathioprine ADME Ribavirin ADME
Drugs			Troglitazone Ethanol Fostamatinib
Diseases		Bjornstad syndrome Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
GWAS		Male-pattern baldness ( 28196072)	Heel bone mineral density ( 30598549) Mean corpuscular hemoglobin ( 32888494) Mean corpuscular volume ( 27863252) Mean reticulocyte volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Red cell distribution width ( 32888494) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI (age <50) ( 26426971) Waist-to-hip ratio adjusted for BMI (age >50) ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
Interacting Genes		3 interacting genes: DDX24 DNAJA1 MTDH	3 interacting genes: CREB3 HTR2C WHR1
Entrez ID		617	2030
HPRD ID		04708	03724
Ensembl ID		ENSG00000074582	ENSG00000112759
Uniprot IDs		A0A024R445 A8JZZ8 Q9Y276	Q99808
PDB IDs			6OB6 6OB7 8TZI
Enriched GO Terms of Interacting Partners?		Protein Complex Involved In Cell Adhesion	Positive Regulation Of Single Strand Break Repair Positive Regulation Of Deacetylase Activity 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine Binding Protein Insertion Into Mitochondrial Inner Membrane From Matrix Gq/11-coupled Serotonin Receptor Activity Positive Regulation Of Phosphatidylinositol Biosynthetic Process G Protein-coupled Serotonin Receptor Complex Regulation Of Corticotropin-releasing Hormone Secretion Release From Viral Latency CCR1 Chemokine Receptor Binding Respiratory Chain Complex III Mitochondrial Respiratory Chain Complex III Assembly Serotonin Binding Phospholipase C-activating Serotonin Receptor Signaling Pathway Serotonin Receptor Signaling Pathway CAMP Response Element Binding Protein Binding Positive Regulation Of Phospholipid Biosynthetic Process Serotonin Receptor Activity G Protein-coupled Serotonin Receptor Activity Protein Insertion Into Mitochondrial Inner Membrane Regulation Of Phospholipid Biosynthetic Process Neurotransmitter Receptor Activity Positive Regulation Of Ras Protein Signal Transduction Induction Of Positive Chemotaxis Mitochondrial Cytochrome C Oxidase Assembly G Protein-coupled Serotonin Receptor Signaling Pathway Negative Regulation Of Endoplasmic Reticulum Stress-induced Intrinsic Apoptotic Signaling Pathway Respiratory Chain Complex IV Assembly Regulation Of Intracellular Signal Transduction Regulation Of Appetite Regulation Of Cellular Response To Stress Positive Regulation Of Monocyte Chemotaxis Positive Regulation Of Positive Chemotaxis
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