PVRL1 cdna clone
PVRL1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]
Uniprot Description
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: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q23.3
Cellular Component: cell-cell adherens junction; integral to plasma membrane; membrane; plasma membrane
Molecular Function: cell adhesion molecule binding; coreceptor activity; protein binding; protein homodimerization activity; receptor binding
Biological Process: cell recognition; heterophilic cell adhesion; homophilic cell adhesion
Disease: Cleft Lip/palate-ectodermal Dysplasia Syndrome
Research Articles on PVRL1
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Product Notes
The PVRL1 nectin1 (Catalog #AAA1266970) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGCTCGGA TGGGGCTTGC GGGCGCCGCT GGACGCTGGT GGGGACTCGC TCTCGGCTTG ACCGCATTCT TCCTCCCAGG CGTCCACTCC CAGGTGGTCC AGGTGAACGA CTCCATGTAT GGCTTCATCG GCACAGACGT GGTTCTGCAC TGCAGCTTTG CCAACCCGCT TCCCAGCGTG AAGATCACCC AGGTCACATG GCAGAAGTCC ACCAATGGCT CCAAGCAGAA CGTGGCCATC TACAACCCAT CCATGGGCGT GTCCGTGCTG GCTCCCTACC GCGAGCGTGT GGAATTCCTG CGGCCCTCCT TCACCGATGG CACTATCCGC CTCTCCCGCC TGGAGCTGGA GGATGAGGGT GTCTACATCT GCGAGTTTGC TACCTTCCCT ACGGGCAATC GAGAAAGCCA GCTCAATCTC ACGGTGATGG CCAAACCCAC CAATTGGATA GAGGGTACCC AGGCAGTGCT TCGAGCCAAG AAGGGGCAGG ATGACAAGGT CCTGGTGGCC ACCTGCACCT CAGCCAATGG GAAGCCTCCC AGTGTGGTAT CCTGGGAAAC TCGGTTAAAA GGTGAGGCAG AGTACCAGGA GATCCGGAAC CCCAATGGCA CAGTGACGGT CATCAGCCGC TACCGCCTGG TGCCCAGCAG GGAAGCCCAC CAGCAGTCCT TGGCCTGCAT CGTCAACTAC CACATGGACC GCTTCAAGGA AAGCCTCACT CTCAACGTGC AGTATGAGCC TGAGGTAACC ATTGAGGGGT TTGATGGCAA CTGGTACCTG CAGCGGATGG ACGTGAAGCT CACCTGCAAA GCTGATGCTA ACCCCCCAGC CACTGAGTAC CACTGGACCA CGCTAAATGG CTCTCTCCCC AAGGGTGTGG AGGCCCAGAA CAGAACCCTC TTCTTCAAGG GACCCATCAA CTACAGCCTG GCAGGGACCT ACATCTGTGA GGCCACCAAC CCCATCGGTA CACGCTCAGG CCAGGTGGAG GTCAATATCA CAGAATTCCC CTACACCCCG TCTCCTCCCG AACATGGGCG GCGCGCCGGG CCGGTGCCCA CGGCCATCAT TGGGGGCGTG GCGGGGAGCA TCCTGCTGGT GTTGATTGTG GTCGGCGGGA TCGTGGTCGC CCTGCGTCGG CGCCGGCACA CCTTCAAGGG TGACTACAGC ACCAAGAAGC ACGTGTATGG CAACGGCTAC AGCAAGGCAG GCATCCCCCA GCACCACCCA CCAATGGCAC AGAACCTGCA GTACCCCGAC GACTCAGACG ACGAGAAGAA GGCCGGCCCA CTGGGTGGAA GCAGCTATGA GGAGGAGGAG GAGGAGGAGG AGGGCGGTGG AGGGGGCGAG CGCAAGGTGG GCGGCCCCCA CCCCAAATAT GACGAGGACG CCAAGCGGCC CTACTTCACC GTGGATGAGG CCGAGGCCCG TCAGGACGGC TACGGGGACC GGACTCTGGG CTACCAGTAC GACCCTGAGC AGCTGGACTT GGCTGAGAAC ATGGTTTCTC AGAACGACGG GTCTTTCATT TCCAAGAAGG AGTGGTACGT GTAG. It is sometimes possible for the material contained within the vial of "PVRL1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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