NECTIN1 (nectin cell adhesion molecule 1)
- symbol:
- NECTIN1
- locus group:
- protein-coding gene
- location:
- 11q23.3
- gene_family:
- CD molecules|V-set domain containing|C2-set domain containing|Immunoglobulin-like domain containing
- alias symbol:
- PRR|PRR1|PVRR1|SK-12|HIgR|CLPED1|CD111|OFC7|Nectin-1
- alias name:
- nectin
- entrez id:
- 5818
- ensembl gene id:
- ENSG00000110400
- ucsc gene id:
- uc001pwv.4
- refseq accession:
- NM_002855
- hgnc_id:
- HGNC:9706
- approved reserved:
- 1999-11-15
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]
该基因编码起着粘着路口和紧密连接的上皮细胞和内皮细胞组织中的角色的粘附蛋白。蛋白质是钙（2 +） - 依赖性的细胞 - 细胞粘附分子，其属于免疫球蛋白超家族，并具有3胞外免疫球蛋白样环路，单个跨膜结构域（在一些同种型），和胞质区。该蛋白质充当疱疹糖蛋白D（gD的）单纯病毒1和2型（HSV-1，HSV-2）的受体，和伪狂犬病病毒（PRV），并介导病毒进入上皮细胞和神经元细胞。突变这个基因导致唇腭裂/外胚层发育不良综合征1（CLPED1）以及非综合征性唇裂伴或不伴腭裂（CL / P）。在多个转录剪接变异导致的蛋白质编码具有鲜明的C-末端。 [由RefSeq的，2009年10月提供]
基因本体信息
NECTIN1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
NECTIN1基因的本体（GO）信息：
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