nectin 1: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI); also known as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDMI is an autosomal recessive syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7). Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two- third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Belongs to the nectin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Cell adhesion
Cellular Component: neuron projection; cell-cell adherens junction; intracellular membrane-bound organelle; membrane; axon; plasma membrane; integral to membrane; synapse; catenin complex; cell junction
Molecular Function: protein binding; protein homodimerization activity; protein heterodimerization activity; virion binding; receptor activity; cell adhesion molecule binding; carbohydrate binding
Biological Process: heterophilic cell adhesion; axon guidance; entry of virus into host cell; cell-cell adhesion; camera-type eye morphogenesis; viral reproduction; regulation of synaptogenesis; retina development in camera-type eye; lens morphogenesis in camera-type eye; homophilic cell adhesion; cell adhesion; iron ion transport
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