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Protein Page:
nectin 1

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. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q23.3
Cellular Component: adherens junction; apical junction complex; axon; catenin complex; cell-cell adherens junction; cell-cell contact zone; extracellular region; integral component of membrane; integral component of plasma membrane; intracellular membrane-bound organelle; membrane; plasma membrane; presynaptic membrane
Molecular Function: carbohydrate binding; cell adhesion molecule binding; coreceptor activity; identical protein binding; protein binding; protein heterodimerization activity; protein homodimerization activity; receptor binding; viral receptor activity; virion binding
Biological Process: axon guidance; cell adhesion; cell recognition; entry of virus into host cell; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion; immune response; iron ion transport; lens morphogenesis in camera-type eye; regulation of synapse assembly; retina development in camera-type eye; signal transduction
Disease: Cleft Lip/palate-ectodermal Dysplasia Syndrome
Reference #:  Q15223 (UniProtKB)
Alt. Names/Synonyms: CD111; CLPED1; ectodermal dysplasia 4 (Margarita Island type); ED4; Herpes virus entry mediator C; Herpesvirus entry mediator C; Herpesvirus Ig-like receptor; HIgR; HVEC; MGC142031; MGC16207; nectin 1; Nectin-1; OFC7; poliovirus receptor-like 1; poliovirus receptor-related 1 (herpesvirus entry mediator C); Poliovirus receptor-related protein 1; PRR; PRR1; PVRL1; PVRR; PVRR1; SK-12
Gene Symbols: NECTIN1
Molecular weight: 57,158 Da
Basal Isoelectric point: 5.77  Predict pI for various phosphorylation states
CST Pathways:  Adherens Junction Dynamics
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nectin 1

Protein Structure Not Found.
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