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

Gene ID: 6692, updated on 11-Jun-2021

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
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Genomic context

See SPINT1 in Genome Data Viewer
Location:
15q15.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 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 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

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

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)

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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 109.20210514

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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