• Gene id: 10418

Gene Summary

• Gene Symbol: SPON1   Gene   UCSC   Ensembl
• Aliases: VSGP/F-spondin, f-spondin
• Gene name: spondin 1
• Alternate names: spondin-1, spondin 1, (f-spondin) extracellular matrix protein, spondin 1, extracellular matrix protein, vascular smooth muscle cell growth-promoting factor,
• Gene location: 11p15.2 (13962722: 14268132)     Exons: 16     NC_000011.10
• OMIM: 604989

Protein Summary

• Protein general information: Q9HCB6  
  • Name: Spondin 1 (F spondin) (Vascular smooth muscle cell growth promoting factor)
  • Length: 807  
  • Mass: 90973
  • Tissue specificity: Highest expression in lung, lower expression in brain, heart, kidney, liver and testis, and lowest expression in pancreas, skeletal muscle and ovary. Not expressed in spleen. {ECO
• Sequence:

  MRLSPAPLKLSRTPALLALALPLAAALAFSDETLDKVPKSEGYCSRILRAQGTRREGYTEFSLRVEGDPDFYKPG
  TSYRVTLSAAPPSYFRGFTLIALRENREGDKEEDHAGTFQIIDEEETQFMSNCPVAVTESTPRRRTRIQVFWIAP
  PAGTGCVILKASIVQKRIIYFQDEGSLTKKLCEQDSTFDGVTDKPILDCCACGTAKYRLTFYGNWSEKTHPKDYP
  RRANHWSAIIGGSHSKNYVLWEYGGYASEGVKQVAELGSPVKMEEEIRQQSDEVLTVIKAKAQWPAWQPLNVRAA
  PSAEFSVDRTRHLMSFLTMMGPSPDWNVGLSAEDLCTKECGWVQKVVQDLIPWDAGTDSGVTYESPNKPTIPQEK
  IRPLTSLDHPQSPFYDPEGGSITQVARVVIERIARKGEQCNIVPDNVDDIVADLAPEEKDEDDTPETCIYSNWSP
  WSACSSSTCDKGKRMRQRMLKAQLDLSVPCPDTQDFQPCMGPGCSDEDGSTCTMSEWITWSPCSISCGMGMRSRE
  RYVKQFPEDGSVCTLPTEETEKCTVNEECSPSSCLMTEWGEWDECSATCGMGMKKRHRMIKMNPADGSMCKAETS
  QAEKCMMPECHTIPCLLSPWSEWSDCSVTCGKGMRTRQRMLKSLAELGDCNEDLEQVEKCMLPECPIDCELTEWS
  QWSECNKSCGKGHVIRTRMIQMEPQFGGAPCPETVQRKKCRIRKCLRNPSIQKLRWREARESRRSEQLKEESEGE
  QFPGCRMRPWTAWSECTKLCGGGIQERYMTVKKRFKSSQFTSCKDKKEIRACNVHPC

• Structural information:
  • Protein Domains: (29..19-)
    (/note="Reelin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00363-)
    (195..38-)
    (/note="Spondin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00364-)
    (442..49-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR002861  IPR042307  IPR009465  IPR038678  IPR000884   IPR036383  
  • Prosite: PS51019 PS51020 PS50092
  • CDD: cd08544
  • PDB: 2ZOT 2ZOU 3COO 3Q13
  • PDBsum: 2ZOT 2ZOU 3COO 3Q13
  • STRING: ENSP00000460236
• Other Databases: GeneCards:  SPON1  Malacards:  SPON1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902430	negative regulation of amyloid-beta formation	IEA	biological process
GO:0010954	positive regulation of protein processing	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0050693	LBD domain binding	IEA	molecular function
GO:1902993	positive regulation of amyloid precursor protein catabolic process	IEA	biological process
GO:0005201	extracellular matrix structural constituent	ISS	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq