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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
  • Gene Overview
    MyGene.info: SPINT1
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:119237362-119249527 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr2:119237360-119249535 (.)
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
    11
  • Human Ortholog
    SPINT1, serine peptidase inhibitor, Kunitz type 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HAI, HAI1, MANSC2
  • Links
    NCBI Gene ID: 6692
    neXtProt AC: NX_O43278
    UniProt: O43278

  • Chr Location
    15q15.1; chr15:40844018-40857655 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9653
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SPINT1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 4 alleles in 5 genetic backgrounds
    20 phenotypes from multigenic genotypes
    23 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027315 Ensembl Gene Model | MGI Sequence Detail 12166 C57BL/6J ±  kb
    transcript ENSMUST00000028783 Ensembl | MGI Sequence Detail 2273 Not Applicable  
    polypeptide ENSMUSP00000028783 Ensembl | 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
    • 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 80
      cDNA 76
      Primer pair 3
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 14
      Gene Ontology 6
      Phenotypes 23
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:235722 Szabo R, et al., Delineation of proteolytic and non-proteolytic functions of the membrane-anchored serine protease prostasin. Development. 2016 Aug 1;143(15):2818-28

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory