SCUBE1 (signal peptide, CUB domain and EGF like domain containing 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80274
Gene name Gene Name - the full gene name approved by the HGNC.
Signal peptide, CUB domain and EGF like domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCUBE1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB do
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(74)
miRTarBase ID miRNA Experiments Reference
MIRT513272 hsa-miR-449b-3p PAR-CLIP 22012620
MIRT513271 hsa-miR-34c-3p PAR-CLIP 22012620
MIRT513270 hsa-miR-3189-3p PAR-CLIP 22012620
MIRT513269 hsa-miR-4786-3p PAR-CLIP 22012620
MIRT513268 hsa-miR-671-5p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 12270931
GO:0005515 Function Protein binding IPI 12270931
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611746 13441 ENSG00000159307
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IWY4
Protein name Signal peptide, CUB and EGF-like domain-containing protein 1
Protein function Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12947 EGF_3 37 → 72 EGF domain Domain
PF12662 cEGF 97 → 120 Complement Clr-like EGF-like Domain
PF14670 FXa_inhibition 121 → 156 Domain
PF14670 FXa_inhibition 245 → 280 Domain
PF14670 FXa_inhibition 286 → 321 Domain
PF07645 EGF_CA 362 → 407 Calcium-binding EGF domain Domain
PF07699 Ephrin_rec_like 636 → 683 Putative ephrin-receptor like Family
PF07699 Ephrin_rec_like 690 → 737 Putative ephrin-receptor like Family
PF07699 Ephrin_rec_like 746 → 793 Putative ephrin-receptor like Family
PF00431 CUB 798 → 907 CUB domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in endothelial cells. Highly expressed in platelets. Stored in platelet alpha granules, and transferred to the cell surface upon activation and aggregation. A smaller form, probably produced by limited proteolysis, after being
Sequence 
MGAAAVRWHLCVLLALGTRGRLAGGSGLPGSVDVDECSEGTDDCHIDAICQNTPKSYKCL
CKPGYKGEGKQCEDIDECENDYYNGGCVHECINIPGNYRCTCFDGFMLAHDGHNCLDVDE
CQDNNGGCQQICVNAMGSYECQCHSGFFLSDNQHTCIHRSNEGMNCMNKDHGCAHICRET
PKGGVACDCRPGFDLAQNQKDCTLTCNYGNGGCQHSCEDTDTGPTCGCHQKYALHSDGRT
CIETCAVNNGGCDRTCKDTATGVRCSCPVGFTLQPDGKTCKDINECLVNNGGCDHFCRNT
VGSFECGCRKGYKLLTDERTCQDIDECSFERTCDHICINSPGSFQCLCHRGYILYGTTHC
GDVDECSMSNGSCDQGCVNTKGSYECVCPPGRRLHWNGKDCVETGKCLSRAKTSPRAQLS
CSKAGGVESCFLSCPAHTLFVPDSENSYVLSCGVPGPQGKALQKRNGTSSGLGPSCSDAP
TTPIKQKARFKIRDAKCHLRPHSQARAKETARQPLLDHCHVTFVTLKCDSSKKRRRGRKS
PSKEVSHITAEFEIETKMEEASDTCEADCLRKRAEQSLQAAIKTLRKSIGRQQFYVQVSG
TEYEVAQRPAKALEGQGACGAGQVLQDSKCVACGPGTHFGGELGQCVSCMPGTYQDMEGQ
LSCTPCPSSDGLGLPGARNVSECGGQCSPGFFSADGFKPCQACPVGTYQPEPGRTGCFPC
GGGLLTKHEGTTSFQDCEAKVHCSPGHHYNTTTHRCIRCPVGTYQPEFGQNHCITCPGNT
STDFDGSTNVTHCKNQHCGGELGDYTGYIESPNYPGDYPANAECVWHIAPPPKRRILIVV
PEIFLPIEDECGDVLVMRKSASPTSITTYETCQTYERPIAFTSRSRKLWIQFKSNEGNSG
KGFQVPYVTYDEDYQQLIEDIVRDGRLYASENHQEILKDKKLIKALFDVLAHPQNYFKYT
AQESKEMFPRSFIKLLRSKVSRFLRPYK
Sequence length 988
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Degradation of the extracellular matrix
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 36348351
Central Nervous System Vascular Malformations Associate 18303018
Inflammation Associate 12270931
Neoplasms Stimulate 36348351
Obsessive Compulsive Disorder Associate 31771860
Pulmonary Embolism Stimulate 38259670
Thrombosis Associate 12270931
Venous Thromboembolism Associate 21463476