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Gene Gene information from NCBI Gene database.
Entrez ID 6692
Gene name Serine peptidase inhibitor, Kunitz type 1
Gene symbol SPINT1
Synonyms (NCBI Gene)
HAIHAI1MANSC2
Chromosome 15
Chromosome location 15q15.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
226 Show/Hide all (226)
miRTarBase ID miRNA Experiments Reference
MIRT1384569 hsa-miR-1185 CLIP-seq
MIRT1384570 hsa-miR-1236 CLIP-seq
MIRT1384571 hsa-miR-138 CLIP-seq
MIRT1384572 hsa-miR-29a CLIP-seq
MIRT1384573 hsa-miR-29b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25 Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IEA
GO:0001892 Process Embryonic placenta development IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 9045658
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605123 11246 ENSG00000166145
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43278
Protein name Kunitz-type protease inhibitor 1 (Hepatocyte growth factor activator inhibitor type 1) (HAI-1)
Protein function Inhibitor of HGFAC (PubMed:9045658). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain (PubMed:20977675). {ECO:0000269|PubMed:20
PDB 1YC0 , 2MSX , 4ISL , 4ISN , 4ISO , 5EZD , 5H7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00014 Kunitz_BPTI 390 → 442 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF00014 Kunitz_BPTI 249 → 301 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
PF00057 Ldl_recept_a 333 → 369 Low-density lipoprotein receptor domain class A Repeat
PF07502 MANEC 48 → 139 MANEC domain Domain
Sequence
MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPG
FVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLIN
CLYEQNFVCKFAPREGFIN
YLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLV
LKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTV
LSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILAC
R
GVQGGPLRGSSGAQATFPQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNC
PDASDEAAC
EKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFT
YGGCYGNKNNFEEEQQCLESCR
GISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVV
AILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTRPL
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Transcriptional misregulation in cancer MET Receptor Activation
Prostate cancer Signaling by MST1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Lung cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (88)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15471558
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15471558
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27992572 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 17935617
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29095880
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 24659667
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia BEFREE 21898507
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11562767, 16557597, 20716618
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11290548, 34381422 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11085539
★★★★★
★☆☆☆☆
Found in Text Mining only