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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
    gene 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
    153 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0026338
 protein coding gene Chr2:121974548-121988878 (+)
A/J MGP_AJ_G0026299
 protein coding gene Chr2:117013670-117025918 (+)
AKR/J MGP_AKRJ_G0026278
 protein coding gene Chr2:120291111-120307131 (+)
BALB/cJ MGP_BALBcJ_G0026312
 protein coding gene Chr2:117278553-117290959 (+)
C3H/HeJ MGP_C3HHeJ_G0026058
 protein coding gene Chr2:120758163-120770454 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026759
 protein coding gene Chr2:125989604-126001773 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024139
 protein coding gene Chr2:112068721-112081420 (+)
CAST/EiJ MGP_CASTEiJ_G0025520
 protein coding gene Chr2:121067067-121080882 (+)
CBA/J MGP_CBAJ_G0026034
 protein coding gene Chr2:130425394-130437700 (+)
DBA/2J MGP_DBA2J_G0026173
 protein coding gene Chr2:116439193-116451770 (+)
FVB/NJ MGP_FVBNJ_G0026135
 protein coding gene Chr2:115258845-115271535 (+)
LP/J MGP_LPJ_G0026274
 protein coding gene Chr2:122289642-122301752 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026154
 protein coding gene Chr2:134774647-134788018 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026814
 protein coding gene Chr2:120410722-120422998 (+)
PWK/PhJ MGP_PWKPhJ_G0025256
 protein coding gene Chr2:115998918-116011105 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025055
 protein coding gene Chr2:119601856-119614013 (+)
WSB/EiJ MGP_WSBEiJ_G0025589
 protein coding gene Chr2:121247703-121260815 (+)



Homology
more
  • Human Ortholog
    SPINT1, serine peptidase inhibitor, Kunitz type 1
  • Vertebrate Orthologs
    4
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
    neXtProt AC: NX_O43278
    UniProt: O43278

  • Chr Location
    15q15.1; chr15:40844018-40858207 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 5 alleles in 6 genetic backgrounds
    20 phenotypes from multigenic genotypes
    28 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
    20
  • GO References
    9
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
non-membrane-bounded 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
    796
  • Tissues
    64
  • cDNA Data
    75
  • Literature Summary
    15
  • 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
    Molecular
    Reagents
    less
    • All nucleic 81
      cDNA 76
      Primer pair 3
      Other 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 15
      Gene Ontology 9
      Phenotypes 28
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:340720 Szabo R, et al., Early-onset tufting enteropathy in HAI-2-deficient mice is independent of matriptase-mediated cleavage of EpCAM. Development. 2023 Sep 1;150(17)
    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
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory