About   Help   FAQ
Spint1 Gene Detail
Summary
  • Symbol
    Spint1
  • Name
    serine protease inhibitor, Kunitz type 1
  • Synonyms
    HAI-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338033
    NCBI Gene: 20732
  • Alliance
    genome feature page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:119067841-119079995 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 59.97 cM, cytoband E5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    360 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338033
 protein coding gene Chr2:119067841-119080008 (+)
129S1/SvImJ ENSMUSG00200047800
 protein coding gene Chr2:116007155-116019448 (+)
A/J ENSMUSG00195021792
 protein coding gene Chr2:116055733-116068001 (+)
AKR/J ENSMUSG00220034581
 protein coding gene Chr2:115933199-115947601 (+)
BALB/cJ ENSMUSG00180037820
 protein coding gene Chr2:115860838-115873106 (+)
C3H/HeJ ENSMUSG00175022533
 protein coding gene Chr2:116322528-116334821 (+)
C57BL/6NJ ENSMUSG00215010763
 protein coding gene Chr2:115984687-115996854 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024139
 protein coding gene Chr2:112068721-112081420 (+)
CAST/EiJ ENSTCUG00005016345
 protein coding gene Chr2:115258657-115270922 (+)
CBA/J ENSMUSG00210006545
 protein coding gene Chr2:116163505-116175799 (+)
DBA/2J ENSMUSG00185043172
 protein coding gene Chr2:115857550-115869807 (+)
FVB/NJ ENSMUSG00205018351
 protein coding gene Chr2:115071301-115085704 (+)
JF1/MsJ ENSUMUG00000017869
 protein coding gene Chr2:115726168-115738333 (+)
LP/J ENSMUSG00230017306
 protein coding gene Chr2:117666811-117679101 (+)
NOD/ShiLtJ ENSMUSG00190045314
 protein coding gene Chr2:116091792-116104085 (+)
NZO/HlLtJ ENSMUSG00225003134
 protein coding gene Chr2:125570145-125582438 (+)
PWK/PhJ ENSLUMG00010042971
 protein coding gene Chr2:115632113-115644250 (+)
SPRET/EiJ ENSMSPG00010043470
 protein coding gene Chr2:118036385-118048571 (+)
WSB/EiJ ENSIUOG00005021619
 protein coding gene Chr2:115823036-115835754 (+)



Homology
more
  • Human Ortholog
    SPINT1, serine peptidase inhibitor, Kunitz type 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPINT1, serine peptidase inhibitor, Kunitz type 1
  • Synonyms
    HAI, HAI1, MANSC2
  • Links
    NCBI Gene ID: 6692
    UniProt: O43278

  • Chr Location
    15q15.1; chr15:40843513-40858383 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    30 phenotypes from 5 alleles in 6 genetic backgrounds
    20 phenotypes from multigenic genotypes
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice exhibit embryonic lethality at E10.5 or earlier, growth retardation, and widespread cell apoptosis. Placental development is impaired with abnormalities in branching morphogenesis, the formation of the labyrinth layer and placental function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    687
  • Tissues
    64
  • cDNA Data
    75
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20732 NCBI Gene Model | MGI Sequence Detail 12155 C57BL/6J ±  kb
    transcript NM_001412661 RefSeq | MGI Sequence Detail 2503 C57BL/6  
    polypeptide Q9R097 UniProt | EBI | MGI Sequence Detail 507 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000015542 Kunitz-type protease inhibitor 1
      (term hierarchy)
    • InterPro Domains
      IPR013783 Immunoglobulin-like fold
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR013980 MANSC domain
      IPR002223 Pancreatic trypsin inhibitor Kunitz domain
      IPR036880 Pancreatic trypsin inhibitor Kunitz domain superfamily
      IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
      IPR011106 Seven cysteines, N-terminal
    • GlyGen
      Q9R097 3 sites, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 81
      cDNA 76
      Primer pair 3
      Other 2
      Antibodies 4

      Microarray probesets 3
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 16
      Gene Ontology 13
      Phenotypes 29
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:359191 Lin HH, et al., Spint1 disruption in mouse pancreas leads to glucose intolerance and impaired insulin production involving HEPSIN/MAFA. Nat Commun. 2024 Dec 3;15(1):10537
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory