vitamin K epoxide reductase complex subunit 1 (vitamin K1 2,3-epoxide reductase subunit 1, VKORC1, VKOR, MSTP134, MSTP576, UNQ308/PRO351)

Function: 1) catalytic subunit of vitamin K epoxide reductase complex 2) location of Cys within a proposed transmembrane is consistent both with the known hydrophobic environment of the thiol redox site of the enzyme & the lipophilicity of vitamin K & warfarin Compartment: endoplasmic reticulum membrane Alternative splicing: named isoforms=2 Expression: - expressed in fetal & adult liver > fetal heart, kidney, & lung, adult heart & pancreas Pathology: 1) defects in VKORC1 are associated with combined deficiency of all vitamin K-dependent clotting factors type 2 2) defects in VKORC1 are associated with warfarin resistance

General

enzyme catalytic subunit transmembrane 3 protein

Properties

SIZE: MW = 18 kD entity length = 163 aa COMPARTMENT: endoplasmic reticulum MOTIF: exoplasmic domain {1-8} transmembrane domain {9-29} cytoplasmic loop {30-100} transmembrane domain {101-123} exoplasmic loop {124-126} transmembrane domain {127-149} MOTIF: cysteine residue {C132} MODIFICATION: cysteine residue {C135} cysteine residue {C135} MODIFICATION: cysteine residue {C132} cytoplasmic domain {150-163}

Database Correlations

OMIM correlations MORBIDMAP 608547 UniProt Q9BQB6 Pfam PF07884 ENZYME 1.1.4.1

References

UniProt :accession Q9BQB6