MKS1 and TMEM67

Number of citations of the paper that reports this interaction (PubMedID 17185389)
111

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 Centriole Cytosol Membrane 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	Neural Tube Closure Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Determination Of Left/right Symmetry Epithelial Structure Maintenance Embryonic Digit Morphogenesis Motile Cilium Assembly Embryonic Skeletal System Development Branching Morphogenesis Of An Epithelial Tube Inner Ear Receptor Cell Stereocilium Organization Cilium Assembly Head Development Cardiac Septum Morphogenesis Regulation Of Canonical Wnt Signaling Pathway Common Bile Duct Development Ciliary Basal Body-plasma Membrane Docking Regulation Of Smoothened Signaling Pathway Involved In Dorsal/ventral Neural Tube Patterning Non-motile Cilium Assembly Embryonic Brain Development Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway	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		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 Q9NXB0	Q5HYA8
PDB IDs
Enriched GO Terms of Interacting Partners?
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