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

Gene ID: 6692, updated on 15-May-2016
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 HPRD:05494; MIM:605123; Vega:OTTHUMG00000130068
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]
Orthologs
Location:
15q15.1
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (40844018..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 uncharacterized LOC102724362 Neighboring gene ras homolog family member V Neighboring gene VPS18, CORVET/HOPS core subunit

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
kunitz-type protease inhibitor 1
Names
HAI-1
hepatocyte growth factor activator inhibitor type 1
serine protease inhibitor, Kunitz type 1

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
    cd00109
    Location:375426
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    cd00112
    Location:319353
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam07502
    Location:49140
    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, OTTHUMP00000249670, ENST00000562057, OTTHUMT00000421226
    Conserved Domains (3) summary
    cd00109
    Location:375426
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    cd00112
    Location:319353
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam07502
    Location:49140
    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, OTTHUMP00000160545, ENST00000344051, OTTHUMT00000252359
    Conserved Domains (3) summary
    cd00109
    Location:391442
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    cd00112
    Location:335369
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam07502
    Location:49140
    MANEC; MANEC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    40844018..40857655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521957.1XP_011520259.1  

    See identical proteins and their annotated locations for XP_011520259.1

    Conserved Domains (2) summary
    cd00109
    Location:349400
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam07502
    Location:49140
    MANEC; MANEC domain
  2. XM_011521958.1XP_011520260.1  

    See identical proteins and their annotated locations for XP_011520260.1

    Conserved Domains (2) summary
    cd00109
    Location:333384
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam07502
    Location:49140
    MANEC; MANEC domain
  3. XM_006720657.1XP_006720720.1  

    See identical proteins and their annotated locations for XP_006720720.1

    UniProtKB/Swiss-Prot
    O43278
    Related
    ENSP00000458074, OTTHUMP00000249674, ENST00000568580, OTTHUMT00000421231
    Conserved Domains (3) summary
    cd00109
    Location:391442
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    cd00112
    Location:335369
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam07502
    Location:49140
    MANEC; MANEC domain

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    41254190..41267796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)