MKS1 and TMEM67

Data Source:
HPRD (in vivo)

		MKS1	TMEM67
Description		MKS transition zone complex subunit 1	transmembrane protein 67
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Cytoplasm Centrosome Cytosol MKS Complex Ciliary Basal Body	Endoplasmic Reticulum Membrane Centrosome Integral Component Of Membrane Cytoplasmic Vesicle Membrane Ciliary Transition Zone MKS Complex Ciliary Membrane
	Molecular Function	Protein Binding	Protein Binding Filamin Binding Unfolded Protein Binding
	Biological Process	Cilium Assembly Ciliary Basal Body-plasma Membrane Docking	Negative Regulation Of Centrosome Duplication Ubiquitin-dependent ERAD Pathway Cilium Assembly Ciliary Basal Body-plasma Membrane Docking
Pathways		Hedgehog 'off' state Anchoring of the basal body to the plasma membrane	Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Bardet-Biedl syndrome (BBS) Meckel syndrome (MKS); Meckel-Gruber syndrome	Joubert syndrome COACH syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome
GWAS		Eosinophil counts ( 32888494) Eosinophil percentage of white cells ( 32888494) Post bronchodilator FEV1 in COPD ( 26634245) Post bronchodilator FEV1/FVC ratio in COPD ( 26634245)
Interacting Genes		2 interacting genes: DDX24 TMEM67	2 interacting genes: MKS1 UBQLN1
Entrez ID		54903	91147
HPRD ID		07900	11324
Ensembl ID		ENSG00000011143	ENSG00000164953
Uniprot IDs		A0A0S2Z5Z2 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0	Q5HYA8
PDB IDs
Enriched GO Terms of Interacting Partners?
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