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SPINT1 serine peptidase inhibitor, Kunitz type 1 [ Homo sapiens (human) ]

Gene ID: 6692, updated on 6-Jan-2019

Summary

Official Symbol
SPINT1provided by HGNC
Official Full Name
serine peptidase inhibitor, Kunitz type 1provided by HGNC
Primary source
HGNC:HGNC:11246
See related
Ensembl:ENSG00000166145 MIM:605123
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HAI; HAI1; MANSC2
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 tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 87.0), duodenum (RPKM 69.0) and 15 other tissues See more
Orthologs

Genomic context

See SPINT1 in Genome Data Viewer
Location:
15q15.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (40844043..40857655)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41136246..41149853)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene zinc finger FYVE-type containing 19 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14D Neighboring gene SPINT1 antisense RNA 1 Neighboring gene ras homolog family member V Neighboring gene VPS18, CORVET/HOPS core subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

Pathways from BioSystems

  • MET Receptor Activation, organism-specific biosystem (from REACTOME)
    MET Receptor Activation, organism-specific biosystemHepatocyte growth factor (HGF), the ligand for MET receptor tyrosine kinase (RTK), is secreted into the extracellular matrix (ECM) as an inactive single chain precursor (pro-HGF). The biologically ac...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Signaling by MST1, organism-specific biosystem (from REACTOME)
    Signaling by MST1, organism-specific biosystemInflammatory mediators such as growth factors produced by macrophages play an important role in the inflammatory response occurring during bacterial infection, tissue injury and immune responses. Man...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
branching involved in labyrinthine layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to BMP stimulus IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
placenta blood vessel development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
extracellular space HDA PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kunitz-type protease inhibitor 1
Names
HAI-1
hepatocyte growth factor activator inhibitor type 1
serine protease inhibitor, Kunitz type 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029239.1 RefSeqGene

    Range
    5001..18608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032367.1NP_001027539.1  kunitz-type protease inhibitor 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001027539.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC012476, AI684245, BE871002
    Consensus CDS
    CCDS45231.1
    UniProtKB/Swiss-Prot
    O43278
    Conserved Domains (3) summary
    smart00192
    Location:318350
    LDLa; Low-density lipoprotein receptor domain class A
    pfam00014
    Location:375426
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain
  2. NM_003710.3NP_003701.1  kunitz-type protease inhibitor 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_003701.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC012476, AI684245, BC018702, BM763214
    Consensus CDS
    CCDS45231.1
    UniProtKB/Swiss-Prot
    O43278
    Related
    ENSP00000457076.1, ENST00000562057.5
    Conserved Domains (3) summary
    smart00192
    Location:318350
    LDLa; Low-density lipoprotein receptor domain class A
    pfam00014
    Location:375426
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain
  3. NM_181642.2NP_857593.1  kunitz-type protease inhibitor 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_857593.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as HAI-1B, encodes the longer isoform (1).
    Source sequence(s)
    AC012476, AI684245, AY358969, BM763214
    Consensus CDS
    CCDS10067.1
    UniProtKB/Swiss-Prot
    O43278
    Related
    ENSP00000342098.4, ENST00000344051.8
    Conserved Domains (3) summary
    smart00192
    Location:334366
    LDLa; Low-density lipoprotein receptor domain class A
    pfam00014
    Location:391442
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    40844043..40857655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521957.2XP_011520259.1  kunitz-type protease inhibitor 1 isoform X2

    See identical proteins and their annotated locations for XP_011520259.1

    Conserved Domains (2) summary
    pfam00014
    Location:349400
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain
  2. XM_011521958.2XP_011520260.1  kunitz-type protease inhibitor 1 isoform X3

    See identical proteins and their annotated locations for XP_011520260.1

    Conserved Domains (2) summary
    pfam00014
    Location:333384
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain
  3. XM_006720657.1XP_006720720.1  kunitz-type protease inhibitor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720720.1

    UniProtKB/Swiss-Prot
    O43278
    Related
    ENSP00000458074.1, ENST00000568580.5
    Conserved Domains (3) summary
    smart00192
    Location:334366
    LDLa; Low-density lipoprotein receptor domain class A
    pfam00014
    Location:391442
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam07502
    Location:50139
    MANEC; MANEC domain
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