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

    Gene ID: 6692, updated on 5-Jan-2022

    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
    NEW
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    Genomic context

    See SPINT1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40844048..40858207)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41136246..41150405)

    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 Sharpr-MPRA regulatory region 7770 Neighboring gene SPINT1 antisense RNA 1 Neighboring gene ras homolog family member V Neighboring gene VPS18 core subunit of CORVET and HOPS complexes

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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)

    NEW Try the new Transcript table

    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..19160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032367.2NP_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
      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_001386873.1NP_001373802.1  kunitz-type protease inhibitor 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012476
      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
    3. NM_001386874.1NP_001373803.1  kunitz-type protease inhibitor 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012476
      Conserved Domains (2) summary
      pfam00014
      Location:349400
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam07502
      Location:50139
      MANEC; MANEC domain
    4. NM_001386875.1NP_001373804.1  kunitz-type protease inhibitor 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC012476
      Conserved Domains (2) summary
      pfam00014
      Location:333384
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam07502
      Location:50139
      MANEC; MANEC domain
    5. NM_003710.4NP_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, ENST00000562057.6
      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
    6. NM_181642.3NP_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 Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      40844048..40858207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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