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  2. NECTIN1 - nectin cell adhesion molecule 1 Gene

NECTIN1 - nectin cell adhesion molecule 1 Gene

中文名称:粘连蛋白细胞粘附分子 1

种属: Homo sapiens

同用名: ED4; PRR; HIgR; HV1S; HVEC; OFC7; PRR1; PVRR; CD111; PVRL1; PVRR1; SK-12; CLPED1; nectin-1

基因 ID: 5818 | 基因类型: protein coding

关于 NECTIN1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,638,098-119,729,200 (from NCBI)

This gene has 7 transcripts (splice variants), 285 orthologues, 14 paralogues and is associated with 7 phenotypes. Biased expression in skin (RPKM 64.2), esophagus (RPKM 38.3) and 8 other tissues.

功能概要

该基因编码一种粘附蛋白,该蛋白在上皮细胞和内皮细胞的粘附连接和紧密连接的组织中发挥作用。该蛋白质是一种不依赖于钙 (2+) 的细胞-细胞粘附分子,属于免疫球蛋白超家族,具有 3 个细胞外免疫球蛋白样环、一个跨膜结构域 (在某些亚型中) 和一个细胞质区域。该蛋白充当单纯疱疹病毒 1 型和 2 型 (HSV-1、HSV-2) 和伪狂犬病病毒 (PRV) 的糖蛋白 D (gD) 的受体,并介导病毒进入上皮细胞和神经元细胞。该基因的突变会导致唇腭裂/外胚层发育不良 1 综合征 (CLPED1) 以及伴有或不伴有腭裂的非综合征型唇裂 (CL/P) 。可变剪接导致编码具有不同 C 末端的蛋白质的多个转录变体。[RefSeq 提供,2009 年 10 月]

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]

NECTIN1 基因产物(3)

mRNA Protein Name
NM_002855.5 NP_002846.3 nectin-1 isoform 1 precursor
NM_203285.2 NP_976030.1 nectin-1 isoform 2 precursor
NM_203286.2 NP_976031.1 nectin-1 isoform 3 precursor

NECTIN1 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (44 - 142)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (149 - 235)

Ig_2

Ig_2: Immunoglobulin domain (264 - 333)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
蛋白主名 其他名称

nectin-1

ectodermal dysplasia 4 (Margarita Island type)

重组 NECTIN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70494 Nectin-1 Protein, Human (HEK293, His) Q15223-1 (Q31-T334) ≥95%
HY-P78179 Nectin-1 Protein, Human (Biotinylated, HEK293, His-Avi) Q15223-1 (Q31-T334) ≥95%
HY-P78494 Nectin-1 Protein, Human (HEK293, His-Avi) Q15223-1 (Q31-T334) ≥95%

关联疾病

疾病名称 别名
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

Orofacial Cleft 7

Zlotogora-Ogur Syndrome

CLPED1

Ectodermal Dysplasia, Margarita Island Type

Ed4

Cleft Lip-Palate-Ectodermal Dysplasia Syndrome

Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome

Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate

Ectodermal Dysplasia 4

Ectodermal Dysplasia Margarita Type

Ectodermal Dysplasia, Type 4

Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly

Margarita Type Of Ectodermal Dysplasia

Zlotogora-Zilberman-Tenenbaum Syndrome

Ectd4

Ectodermal Dysplasia 4, Hair/Nail Type

EDMI

Ectodermal Dysplasia Type 4

Margarita Island Ectodermal Dysplasia

Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate

Non-Syndromic Orofacial Cleft 7

OFC7

Non-Syndromic Cleft Lip/Palate 7

Non-Syndromic Cleft Lip With Or Without Cleft Palate 7

Bustos Simosa Pinto Cisternas Syndrome

Zlotogora Syndrome

Zlotogora-Ogur Syndrome

Clped1

Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

Cleft Lip/Palate-Syndactyly-Pili Torti

Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome

Ectodermal Dysplasia, Cleft Lip And Palate, Intellectual Disability, And Syndactyly

Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate

Zlotogora-Zilberman-Tenenbaum Syndrome

Autosomal Recessive Ectodermal Dysplasia

Ed4

Ectodermal Dysplasia Margarita Island Type

Ectodermal Dysplasia Type 4

Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Cleft Lip/Palate

Cleft Lip And Palate

Alveolar Cleft Lip And Palate

Cleft Lip-Alveolus-Palate Syndrome

Flp

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Isolated Cleft Lip
Cleft Lip And Alveolus
Cleft Lip With Or Without Cleft Palate

Tessier Cleft Number 1,2

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Herpetic Whitlow

Herpetic Felon

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Acute Retinal Necrosis Syndrome

Acute Retinal Necrosis

Retinal Necrosis Syndrome, Acute

Non-Invasive Bladder Urothelial Carcinoma

Stage 0 Bladder Urothelial Carcinoma

Genital Herpes

Herpes Genitalis

Genital Herpes Simplex

Venereal Herpes

Virus-Genital Herpes

Orofacial Cleft

Cleft, Orofacial

Pompholyx

Dyshidrosis

Vesicular Eczema Of Hands And/Or Feet

Cheiropompholyx

Dyshydrotic Eczema

Eczema, Dyshidrotic

Vesicular Hand Eczema

Popliteal Pterygium Syndrome

PPS

Faciogenitopopliteal Syndrome

Facio-Genito-Popliteal Syndrome

Popliteal Web Syndrome

Autosomal Dominant Popliteal Pterygium Syndrome

Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies

Popliteal Pterygium Syndrome 1

Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies

Popliteal Pterygium

Van Der Woude Syndrome

Lip-Pit Syndrome

Vws

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

Vdws

Lps

Lip Pit Syndrome

Cleft Lip/Palate With Mucous Cysts Of Lower Lip

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Clouston Syndrome

Ectodermal Dysplasia 2, Clouston Type

Hidrotic Ectodermal Dysplasia

ECTD2

Clouston'S Hidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia Syndrome

Clouston Hidrotic Ectodermal Dysplasia

Clouston'S Syndrome

Ed2

Ectodermal Dysplasia, Hidrotic

Hed2

Ectodermal Dysplasia

Ectodermal Dysplasia, Hidrotic, Autosomal Dominant

Ectodermal Dysplasia, Hidrotic, 2, Formerly

Hed2, Formerly

Autosomal Dominant Hidrotic Ectodermal Dysplasia

Hed

Hidrotic Ectodermal Dysplasia, Autosomal Dominant

Hidrotic Ectodermal Dysplasia 2

Ectodermal Dysplasia 2 Hidrotic

Ectodermal Dysplasia Hidrotic Autosomal Dominant

Dysplasia, Ectodermal, Hidrotic

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Christ-Siemens-Touraine Syndrome

XHED

Ectodermal Dysplasia 1

Xlhed

Ed1

Cst Syndrome

Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked

Ectd1

Ectodermal Dysplasia, Anhidrotic, X-Linked

Eda

Eda1

Hed1

Ectodermal Dysplasia 1, Anhidrotic

X-Linked Anhidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia

Hypohidrotic X-Linked Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, 1

Hypohidrotic Ectodermal Dysplasia, X-Linked

Anhidrotic Ectodermal Dysplasia X-Linked

Hypohidrotic Ectodermal Dysplasia X-Linked

Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia

Hed

Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic

Eda

Christ-Siemens-Touraine Syndrome

ECTD10B

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia, Anhidrotic

Cst Syndrome

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

Dysplasia, Ectodermal, Hypohidrotic

Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Ectodermal Dysplasia 3, Anhidrotic

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NECTIN1 RGD RGD:620791
Macaca mulatta NECTIN1 VGNC VGNC:82196
Mus musculus NECTIN1 MGD MGI:1926483
Canis familiaris NECTIN1 VGNC VGNC:43718
Bos taurus NECTIN1 VGNC VGNC:54888
Felis catus NECTIN1 VGNC VGNC:69187
Others NECTIN1 NCBI