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

Also Known as CEGF3; SSFSC2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 222663

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables BMP binding IPI
IPI: Inferred from physical interaction
33308444 GOA
enables BMP receptor binding IPI
IPI: Inferred from physical interaction
33308444 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15234972 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15234972 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
33308444 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: Inferred from mutant phenotype
33308444 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
15234972 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCUBE3 Protein Structure

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.
Protein Preferred Names Protein Names

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

  • CUB domain and EGF-like repeat containing 3

SCUBE3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SCUBE3 Q8IX30 TGFBR2 Homo sapiens P37173
Anti Tag CoIP
21441952
Intra
SCUBE3 Q8IX30 TGFBR2 Homo sapiens P37173
Protein Array
21441952
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS21191 Scube3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12573 SCUBE3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27707 Scube3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others SCUBE3 NCBI