Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80274
Gene name	Signal peptide, CUB domain and EGF like domain containing 1
Gene symbol	SCUBE1
Synonyms (NCBI Gene)	-
Chromosome	22
Chromosome location	22q13.2
Summary	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

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
MIRT513267	hsa-miR-4747-5p	PAR-CLIP	22012620
MIRT513266	hsa-miR-5196-5p	PAR-CLIP	22012620
MIRT513265	hsa-miR-181b-2-3p	PAR-CLIP	22012620
MIRT513264	hsa-miR-181b-3p	PAR-CLIP	22012620
MIRT513262	hsa-miR-4420	PAR-CLIP	22012620
MIRT513263	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT513272	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT513271	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT513270	hsa-miR-3189-3p	PAR-CLIP	23446348
MIRT513269	hsa-miR-4786-3p	PAR-CLIP	23446348
MIRT513268	hsa-miR-671-5p	PAR-CLIP	23446348
MIRT513267	hsa-miR-4747-5p	PAR-CLIP	23446348
MIRT513266	hsa-miR-5196-5p	PAR-CLIP	23446348
MIRT513265	hsa-miR-181b-2-3p	PAR-CLIP	23446348
MIRT513264	hsa-miR-181b-3p	PAR-CLIP	23446348
MIRT513262	hsa-miR-4420	PAR-CLIP	23446348
MIRT513263	hsa-miR-450a-1-3p	PAR-CLIP	23446348
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
MIRT513267	hsa-miR-4747-5p	PAR-CLIP	22012620
MIRT513266	hsa-miR-5196-5p	PAR-CLIP	22012620
MIRT513265	hsa-miR-181b-2-3p	PAR-CLIP	22012620
MIRT513264	hsa-miR-181b-3p	PAR-CLIP	22012620
MIRT513262	hsa-miR-4420	PAR-CLIP	22012620
MIRT513263	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT513272	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT513271	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT513270	hsa-miR-3189-3p	PAR-CLIP	23446348
MIRT513269	hsa-miR-4786-3p	PAR-CLIP	23446348
MIRT513268	hsa-miR-671-5p	PAR-CLIP	23446348
MIRT513267	hsa-miR-4747-5p	PAR-CLIP	23446348
MIRT513266	hsa-miR-5196-5p	PAR-CLIP	23446348
MIRT513265	hsa-miR-181b-2-3p	PAR-CLIP	23446348
MIRT513264	hsa-miR-181b-3p	PAR-CLIP	23446348
MIRT513262	hsa-miR-4420	PAR-CLIP	23446348
MIRT513263	hsa-miR-450a-1-3p	PAR-CLIP	23446348
MIRT1330951	hsa-miR-1321	CLIP-seq
MIRT1330952	hsa-miR-1827	CLIP-seq
MIRT1330953	hsa-miR-2467-3p	CLIP-seq
MIRT1330954	hsa-miR-3188	CLIP-seq
MIRT1330955	hsa-miR-3202	CLIP-seq
MIRT1330956	hsa-miR-3612	CLIP-seq
MIRT1330957	hsa-miR-4419a	CLIP-seq
MIRT1330958	hsa-miR-4510	CLIP-seq
MIRT1330959	hsa-miR-4728-5p	CLIP-seq
MIRT1330960	hsa-miR-4739	CLIP-seq
MIRT1330961	hsa-miR-4756-5p	CLIP-seq
MIRT1330962	hsa-miR-615-5p	CLIP-seq
MIRT1330963	hsa-miR-650	CLIP-seq
MIRT1921824	hsa-miR-3155	CLIP-seq
MIRT1921825	hsa-miR-3155b	CLIP-seq
MIRT1921826	hsa-miR-361-3p	CLIP-seq
MIRT1921827	hsa-miR-484	CLIP-seq
MIRT1921824	hsa-miR-3155	CLIP-seq
MIRT1921825	hsa-miR-3155b	CLIP-seq
MIRT1921826	hsa-miR-361-3p	CLIP-seq
MIRT1921827	hsa-miR-484	CLIP-seq
MIRT2322380	hsa-miR-3156-3p	CLIP-seq
MIRT2322381	hsa-miR-3616-3p	CLIP-seq
MIRT2322382	hsa-miR-3665	CLIP-seq
MIRT2322383	hsa-miR-4301	CLIP-seq
MIRT2322384	hsa-miR-4318	CLIP-seq
MIRT2322385	hsa-miR-4436b-3p	CLIP-seq
MIRT2322386	hsa-miR-4736	CLIP-seq
MIRT2322387	hsa-miR-532-3p	CLIP-seq
MIRT2322388	hsa-miR-764	CLIP-seq

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
GO:0005615	Component	Extracellular space	IDA	12270931
GO:0005886	Component	Plasma membrane	IDA	12270931
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	NAS	12270931
GO:0007165	Process	Signal transduction	IBA
GO:0007512	Process	Adult heart development	NAS	12270931
GO:0007596	Process	Blood coagulation	NAS	12270931
GO:0009791	Process	Post-embryonic development	NAS	12270931
GO:0009897	Component	External side of plasma membrane	IDA	12270931
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	12270931
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	12270931
GO:0042802	Function	Identical protein binding	IPI	12270931
GO:0045446	Process	Endothelial cell differentiation	NAS	12270931
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA

MIM	HGNC	e!Ensembl
611746	13441	ENSG00000159307

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

	Reactome
			Degradation of the extracellular matrix

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36348351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31792853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31792853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31792853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31668102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30414502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	28379666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28379666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28238185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28379666		★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28554990, 29754760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	12270931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	21463476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

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