• Gene id: 6692

Gene Summary

• Gene Symbol: SPINT1   Gene   UCSC   Ensembl
• Aliases: HAI, HAI1, MANSC2
• Gene name: serine peptidase inhibitor, Kunitz type 1
• Alternate names: kunitz-type protease inhibitor 1, HAI-1, hepatocyte growth factor activator inhibitor type 1, serine protease inhibitor, Kunitz type 1,
• Gene location: 15q15.1 (27479284: 27459755)     Exons: 8     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured t
• OMIM: 605123

Protein Summary

• Protein general information: O43278  
  • Name: Kunitz type protease inhibitor 1 (Hepatocyte growth factor activator inhibitor type 1) (HAI 1)
  • Length: 529  
  • Mass: 58398
• Sequence:

  MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATF
  LESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYR
  QLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVT
  SSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILAC
  RGVQGGPLRGSSGAQATFPQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSG
  FDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVF
  GLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHT
  TRPL

• Structural information:
  • Protein Domains: (57..14-)
    (/note="MANSC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00341-)
    (250..30-)
    1 (/note="BPTI/Kunitz-inhibitor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00031-)
    (334..37-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:000025-)
  • Interpro: IPR013783  IPR002223  IPR036880  IPR036055  IPR023415   IPR002172  IPR013980  IPR011106  IPR020901  IPR042482  
  • Prosite: PS00280 PS50279 PS01209 PS50068 PS50986
  • CDD: cd00109 cd00112
  • PDB: 1YC0 2MSX 4ISL 4ISN 4ISO 5EZD 5H7V
  • PDBsum: 1YC0 2MSX 4ISL 4ISN 4ISO 5EZD 5H7V
  • DIP: 37949
  • STRING: ENSP00000342098
• Other Databases: GeneCards:  SPINT1  Malacards:  SPINT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0060674	placenta blood vessel development	IEA	biological process
GO:0045687	positive regulation of glial cell differentiation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0060670	branching involved in labyrinthine layer morphogenesis	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001892	embryonic placenta development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa05215	Prostate cancer

Diseases

Associated diseases	References
Prostate cancer	PMID:16492908
Alzheimer's disease	PMID:9743567
Biliary atresia	PMID:21898507
Breast cancer	PMID:14734471
Ovarian cancer	PMID:11948120
stomach carcinoma	PMID:16273651
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R