1. Gene
  2. SCUBE3 - signal peptide, CUB domain and EGF like domain containing 3 Gene

SCUBE3 - signal peptide, CUB domain and EGF like domain containing 3 Gene

中文名称:含信号肽、CUB 域和 EGF 样域 3

种属: Homo sapiens

同用名: CEGF3; SSFSC2

基因 ID: 222663 | 基因类型: protein coding

关于 SCUBE3

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,213,956-35,253,079 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in thyroid (RPKM 18.5), adrenal (RPKM 1.4) and 2 other tissues.

功能概要

该基因编码信号肽、补体子成分 C1r/C1s、Uegf、骨形态发生蛋白-1 和表皮生长因子样结构域蛋白家族的成员。该基因在人胚肾细胞中的过度表达导致糖基化形式的蛋白质分泌,形成寡聚体并连接到细胞表面。与健康组织相比,该基因在肺癌肿瘤组织中上调,并且与上皮标记物 E-钙粘蛋白的丢失以及波形蛋白 (一种间质标记物) 的表达增加有关。此外,该基因编码的蛋白是一种转化生长因子β受体配体,当被癌细胞分泌时,可在体外被切割释放出 N 端表皮生长因子样重复结构域和 C 端补体子组件 C1r/C1s 域。全长蛋白和 C 端片段均可与转化生长因子βII 型受体结合,促进上皮-间质转化和肿瘤血管生成。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 12 月]

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung Cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by Cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCUBE3 基因产物(2)

mRNA Protein Name
NM_001303136.2 NP_001290065.1 signal peptide, CUB and EGF-like domain-containing protein 3 isoform 2 precursor
NM_152753.4 NP_689966.2 signal peptide, CUB and EGF-like domain-containing protein 3 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 BMP binding IPI
IPI: 通过物理相互作用推断
33308444 GOA
enables BMP receptor binding IPI
IPI: 通过物理相互作用推断
33308444 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15234972 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15234972 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of BMP signaling pathway IMP
IMP: 通过突变表型推断
33308444 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
33308444 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
15234972 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

SCUBE3 蛋白结构

EGF_3

EGF_3: EGF domain (33 - 68)

cEGF

cEGF: Complement Clr-like EGF-like (93 - 115)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (116 - 151)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (240 - 275)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (281 - 316)

EGF_CA

EGF_CA: Calcium-binding EGF domain (318 - 348)

EGF_CA

EGF_CA: Calcium-binding EGF domain (357 - 387)

Ephrin_rec_like

Ephrin_rec_like: Putative ephrin-receptor like (642 - 689)

Ephrin_rec_like

Ephrin_rec_like: Putative ephrin-receptor like (696 - 743)

Ephrin_rec_like

Ephrin_rec_like: Putative ephrin-receptor like (752 - 799)

CUB

CUB: CUB domain (804 - 913)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 993 a.a.
蛋白主名 其他名称

signal peptide, CUB and EGF-like domain-containing protein 3

CUB domain and EGF-like repeat containing 3

SCUBE3 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
Intra SCUBE3 Q8IX30 TGFBR2 Homo sapiens P37173
Anti Tag CoIP
21441952
Intra SCUBE3 Q8IX30 TGFBR2 Homo sapiens P37173
Protein Array
21441952
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2

Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies

SSFSC2

Ssfsc

Doid:0112358

Spinocerebellar Ataxia 44

SCA44

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Cataract 37

CTRCT37

Cca5

Cataract, Congenital, Cerulean Type, 5

Cataract 37, Autosomal Dominant

Congenital Cataract Cerulean Type 5

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, 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
Canis familiaris SCUBE3 VGNC VGNC:45937
Macaca mulatta SCUBE3 VGNC VGNC:77012
Rattus norvegicus SCUBE3 RGD RGD:1304880
Bos taurus SCUBE3 VGNC VGNC:34373
Felis catus SCUBE3 VGNC VGNC:64939
Mus musculus SCUBE3 MGD MGI:3045253