ALMS1 and ELN

		ALMS1	ELN
Description		ALMS1 centrosome and basal body associated protein	elastin
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Spindle Pole Centrosome Centriole Cytosol Cilium	Extracellular Region Extracellular Matrix Collagen-containing Extracellular Matrix Elastic Fiber
	Molecular Function	Molecular_function Microtubule Binding	Extracellular Matrix Structural Constituent Protein Binding Extracellular Matrix Constituent Conferring Elasticity Extracellular Matrix Binding
	Biological Process	Endosomal Transport Regulation Of Centriole Replication Regulation Of Stress Fiber Assembly Positive Regulation Of Cold-induced Thermogenesis	Outflow Tract Morphogenesis Aortic Valve Morphogenesis Skeletal Muscle Tissue Development Respiratory Gaseous Exchange By Respiratory System Blood Circulation Animal Organ Morphogenesis Extracellular Matrix Organization Regulation Of Actin Filament Polymerization Stress Fiber Assembly Regulation Of Smooth Muscle Cell Proliferation
Pathways		Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2	Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs			Rofecoxib
Diseases
GWAS		Age at voice drop ( 27182965) Blood metabolite levels ( 26401656) Chronic kidney disease ( 20383146) Creatinine levels ( 20383145) Estimated glomerular filtration rate ( 31015462 31451708) Estimated glomerular filtration rate in non-diabetics ( 31451708) Glomerular filtration rate ( 27588450) Glomerular filtration rate (creatinine) ( 26831199) Glomerular filtration rate in non diabetics (creatinine) ( 26831199) High density lipoprotein cholesterol levels ( 33339817) Intelligence (MTAG) ( 29326435) Menarche (age at onset) ( 27182965) Metabolite levels ( 21931564) Metabolite levels (X-11787) ( 23934736) Retinitis pigmentosa ( 33514863) Serum metabolite concentrations in chronic kidney disease ( 33838163) Serum metabolite levels ( 33031748 23093944) Urinary metabolite levels in chronic kidney disease ( 29545352) Urinary metabolite ratios in chronic kidney disease ( 29545352) Urinary metabolites (H-NMR features) ( 24586186)	Diverticular disease ( 30177863) Height ( 31562340)
Interacting Genes		7 interacting genes: CNOT7 ELN GTF2IRD1 HRH4 LIG4 MEGF10 SLC4A5	23 interacting genes: ALMS1 ASS1 BGN CKMT2 CLU DCN ELANE FBLN1 FBLN2 FBN1 FBN2 FCN1 FKBP10 LGALS3 LOX LOXL1 LYZ MAGEH1 MFAP2 MTDH NID2 PRTN3 SPINK1
Entrez ID		7840	2006
HPRD ID		06023	00556
Ensembl ID		ENSG00000116127	ENSG00000049540
Uniprot IDs		Q8TCU4	B3KRT8 B4E3S4 E7EN65 E7ENM0 G3V0G6 G5E950 P15502 Q59H17 Q6ZUN2 Q8NBI4
PDB IDs
Enriched GO Terms of Interacting Partners?
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