TMEM67 and MKS1

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

Data Source:
HPRD (in vivo)

		TMEM67	MKS1
Description		transmembrane protein 67	MKS transition zone complex subunit 1
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum Membrane Centrosome Integral Component Of Membrane Cytoplasmic Vesicle Membrane Ciliary Transition Zone MKS Complex Ciliary Membrane	Cytoplasm Centrosome Centriole Cytosol Membrane MKS Complex Ciliary Basal Body
	Molecular Function	Protein Binding Filamin Binding Unfolded Protein Binding	Protein Binding
	Biological Process	Negative Regulation Of Centrosome Duplication Ubiquitin-dependent ERAD Pathway Cilium Assembly Ciliary Basal Body-plasma Membrane Docking	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
Pathways		Anchoring of the basal body to the plasma membrane	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
Drugs
Diseases		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	Bardet-Biedl syndrome (BBS) 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: MKS1 UBQLN1	2 interacting genes: DDX24 TMEM67
Entrez ID		91147	54903
HPRD ID		11324	07900
Ensembl ID		ENSG00000164953	ENSG00000011143
Uniprot IDs		Q5HYA8	A0A0S2Z5Z2 B4DVC5 H0Y2S2 Q9NXB0
PDB IDs
Enriched GO Terms of Interacting Partners?
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