• Gene id: 80274

Gene Summary

• Gene Symbol: SCUBE1   Gene   UCSC   Ensembl
• Gene name: signal peptide, CUB domain and EGF like domain containing 1
• Alternate names: signal peptide, CUB and EGF-like domain-containing protein 1, signal peptide, CUB domain, EGF-like 1, signal peptide-CUB domain-EGF-related 1,
• Gene location: 22q13.2 (43343371: 43197279)     Exons: 22     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 609648

Protein Summary

• Protein general information: Q8IWY4  
  • Name: Signal peptide, CUB and EGF like domain containing protein 1
  • Length: 988  
  • Mass: 107910
  • 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:

  MGAAAVRWHLCVLLALGTRGRLAGGSGLPGSVDVDECSEGTDDCHIDAICQNTPKSYKCLCKPGYKGEGKQCEDI
  DECENDYYNGGCVHECINIPGNYRCTCFDGFMLAHDGHNCLDVDECQDNNGGCQQICVNAMGSYECQCHSGFFLS
  DNQHTCIHRSNEGMNCMNKDHGCAHICRETPKGGVACDCRPGFDLAQNQKDCTLTCNYGNGGCQHSCEDTDTGPT
  CGCHQKYALHSDGRTCIETCAVNNGGCDRTCKDTATGVRCSCPVGFTLQPDGKTCKDINECLVNNGGCDHFCRNT
  VGSFECGCRKGYKLLTDERTCQDIDECSFERTCDHICINSPGSFQCLCHRGYILYGTTHCGDVDECSMSNGSCDQ
  GCVNTKGSYECVCPPGRRLHWNGKDCVETGKCLSRAKTSPRAQLSCSKAGGVESCFLSCPAHTLFVPDSENSYVL
  SCGVPGPQGKALQKRNGTSSGLGPSCSDAPTTPIKQKARFKIRDAKCHLRPHSQARAKETARQPLLDHCHVTFVT
  LKCDSSKKRRRGRKSPSKEVSHITAEFEIETKMEEASDTCEADCLRKRAEQSLQAAIKTLRKSIGRQQFYVQVSG
  TEYEVAQRPAKALEGQGACGAGQVLQDSKCVACGPGTHFGGELGQCVSCMPGTYQDMEGQLSCTPCPSSDGLGLP
  GARNVSECGGQCSPGFFSADGFKPCQACPVGTYQPEPGRTGCFPCGGGLLTKHEGTTSFQDCEAKVHCSPGHHYN
  TTTHRCIRCPVGTYQPEFGQNHCITCPGNTSTDFDGSTNVTHCKNQHCGGELGDYTGYIESPNYPGDYPANAECV
  WHIAPPPKRRILIVVPEIFLPIEDECGDVLVMRKSASPTSITTYETCQTYERPIAFTSRSRKLWIQFKSNEGNSG
  KGFQVPYVTYDEDYQQLIEDIVRDGRLYASENHQEILKDKKLIKALFDVLAHPQNYFKYTAQESKEMFPRSFIKL
  LRSKVSRFLRPYK

• Structural information:
  • Protein Domains: (33..7-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (74..11-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (117..15-)
    (/note="EGF-like-)
    (-)
  • Interpro: IPR026823  IPR000859  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR024731  IPR009030  IPR035914  IPR011641  
  • Prosite: PS00010 PS01180 PS01186 PS50026 PS01187
  • CDD: cd00041
  • STRING: ENSP00000354080
• Other Databases: GeneCards:  SCUBE1  Malacards:  SCUBE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0019897	extrinsic component of plasma membrane	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045446	endothelial cell differentiation	NAS	biological process
GO:0007512	adult heart development	NAS	biological process
GO:0009791	post-embryonic development	NAS	biological process
GO:0007596	blood coagulation	NAS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0006954	inflammatory response	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq