1. Gene
  2. JAM3 - junctional adhesion molecule 3 Gene

JAM3 - junctional adhesion molecule 3 Gene

中文名称:连接粘附分子 3

种属: Homo sapiens

同用名: JAMC; JAM-2; JAM-3; JAM-C

基因 ID: 83700 | 基因类型: protein coding

关于 JAM3

Cytogenetic location: 11q25 Genomic coordinates (GRCh38): 11:134,069,072-134,152,001 (from NCBI)

This gene has 8 transcripts (splice variants), 276 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues.

功能概要

紧密连接代表上皮或内皮细胞片中细胞间粘附的一种模式,在细胞周围形成连续密封,并作为物理屏障防止溶质和水自由通过细胞旁空间。由该免疫球蛋白超家族基因成员编码的蛋白质位于高内皮细胞之间的紧密连接处。与该家族中的其他蛋白质不同,该蛋白质无法粘附在白细胞细胞系上,只能形成弱的同型相互作用。编码的蛋白质是连接粘附分子蛋白质家族的成员,并充当该家族另一个成员的受体。该基因内含子的突变与脑出血性破坏、室管膜下钙化和先天性白内障有关。可变剪接导致多个转录变体。[RefSeq 提供,2011 年 4 月]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike Other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

JAM3 基因产物(2)

mRNA Protein Name
NM_001205329.2 NP_001192258.1 junctional adhesion molecule C isoform 2 precursor
NM_032801.5 NP_116190.3 junctional adhesion molecule C isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cell-cell adhesion mediator activity IDA
IDA: 通过直接分析推断
11823489 GOA
enables integrin binding IPI
IPI: 通过物理相互作用推断
12208882 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11590146 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adherens junction assembly IMP
IMP: 通过突变表型推断
19060272 GOA
involved in angiogenesis IDA
IDA: 通过直接分析推断
20592283 GOA
involved in apical protein localization IMP
IMP: 通过突变表型推断
19060272 GOA
involved in cell-cell adhesion IDA
IDA: 通过直接分析推断
11823489 GOA
involved in cell-cell adhesion IMP
IMP: 通过突变表型推断
24357068 GOA
involved in granulocyte migration IMP
IMP: 通过突变表型推断
19060272 GOA
involved in hematopoietic stem cell migration to bone marrow IMP
IMP: 通过突变表型推断
24357068 GOA
involved in heterotypic cell-cell adhesion IDA
IDA: 通过直接分析推断
12208882 GOA
involved in negative regulation of cell adhesion mediated by integrin IMP
IMP: 通过突变表型推断
19461049 GOA
involved in negative regulation of integrin activation IMP
IMP: 通过突变表型推断
19461049 GOA
acts upstream of or within positive regulation of membrane permeability IMP
IMP: 通过突变表型推断
31926946 GOA
acts upstream of or within positive regulation of monocyte extravasation IMP
IMP: 通过突变表型推断
31926946 GOA
involved in protein localization to cell junction IMP
IMP: 通过突变表型推断
19060272 GOA
involved in protein localization to cell surface IMP
IMP: 通过突变表型推断
19060272 GOA
involved in regulation of neutrophil chemotaxis IDA
IDA: 通过直接分析推断
15194813 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with bicellular tight junction IDA
IDA: 通过直接分析推断
28196865 GOA
located in cell-cell contact zone IDA
IDA: 通过直接分析推断
15994945 GOA
located in cell-cell junction IMP
IMP: 通过突变表型推断
19461049 GOA
located in desmosome IDA
IDA: 通过直接分析推断
15194813 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
20592283 GOA
part of filamentous actin IDA
IDA: 通过直接分析推断
19060272 GOA
located in microvillus IDA
IDA: 通过直接分析推断
19060272 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11590146 GOA
part of protein complex involved in cell adhesion IDA
IDA: 通过直接分析推断
11590146 GOA
located in tight junction IDA
IDA: 通过直接分析推断
19060272 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

JAM3 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (35 - 129)

Ig_2

Ig_2: Immunoglobulin domain (144 - 228)

  • 0
  • 100
  • 200
  • 310 a.a.
蛋白主名 其他名称

junctional adhesion molecule C

JAM3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
JAM3 Q9BX67 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
JAM3 Q9BX67 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
JAM3 Q9BX67 JAM2 Homo sapiens P57087 21982860
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 JAM3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73850 JAM-C/CD323 Protein, Human (HEK293, Fc) Q9BX67 (V32-N241) ≥95%
HY-P73851 JAM-C/CD323 Protein, Human (HEK293) Q9BX67 (V32-N241) ≥95%

关联疾病

疾病名称 别名
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts

Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome

HDBSCC

Hemorrhagic Destruction Of The Brain With Subependymal Calcification And Cataracts

Hemorrhagic Destruction Of The Brain, Subependymal Calcification, Cataracts

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia

Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome

Band-Like Calcification With Simplified Gyration And Polymicrogyria

Blcpmg

PTORCH1

Baraitser-Brett-Piesowicz Syndrome

Baraitser-Reardon Syndrome

Bilateral Band-Like Calcification With Polymicrogyria

Blc-Pmg

Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

Congenital Intrauterine Infection-Like Syndrome

Baraitser Brett Piesowicz Syndrome

Microcephaly - Intracranial Calcification - Intellectual Disability

Psoriatic Arthritis

Psoriatic Arthritis, Susceptibility To

Psoriatic Arthropathy

Arthropathic Psoriasis

Arthritis, Psoriatic

Arthritis Psoriatica

PSORAS

Arthritic Psoriasis

Psoriasis Arthropathica

Arthritis Psoriatic

Arthritis, Psoriatic, Susceptibility To

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

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 JAM3 RGD RGD:1303248
Mus musculus JAM3 MGD MGI:1933825
Macaca mulatta JAM3 VGNC VGNC:73836
Canis familiaris JAM3 VGNC VGNC:53419
Bos taurus JAM3 VGNC VGNC:50018
Felis catus JAM3 VGNC VGNC:63002
Others JAM3 NCBI