ALMS1 and ELN

Data Source:
BioGRID (biochemical)

		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 Protein Binding Microtubule Binding	Extracellular Matrix Structural Constituent Protein Binding Extracellular Matrix Constituent Conferring Elasticity Extracellular Matrix Binding
	Biological Process	G2/M Transition Of Mitotic Cell Cycle Regulation Of G2/M Transition Of Mitotic Cell Cycle Endosomal Transport Regulation Of Centriole Replication Regulation Of Stress Fiber Assembly Ciliary Basal Body-plasma Membrane Docking 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		Alstrom syndrome (AS)	Congenital supravalvar aortic stenosis Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
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) Intelligence (MTAG) ( 29326435) Menarche (age at onset) ( 27182965) Metabolite levels ( 21931564) Metabolite levels (X-11787) ( 23934736) Serum metabolite levels ( 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		3 interacting genes: GTF2IRD1 LIG4 MEGF10	22 interacting genes: 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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