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
  • Gene Overview
    MyGene.info: SPINT1
Location & Maps
more
  • Sequence Map
    Chr2:119237362-119249527 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12166 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 59.97 cM, cytoband E5
  • Mapping Data
    2 experiments
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

  • Chr Location
    15q15.1; chr15:40844018-40857655 (+)  GRCh38.p2

  • 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
less
  • Phenotype Summary
    28 phenotypes from 4 alleles in 5 genetic backgrounds
    19 phenotypes from multigenic genotypes
    21 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.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Spint1
  • Incidental Mutations
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
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015880 VEGA Gene Model | MGI Sequence Detail 12166 C57BL/6J ±  kb
transcript OTTMUST00000037747 VEGA | MGI Sequence Detail 2323 Not Applicable  
polypeptide OTTMUSP00000016932 VEGA | MGI Sequence Detail 507 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    153 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015542 Kunitz-type protease inhibitor 1
  • InterPro Domains
    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
    IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
    IPR011106 Seven cysteines, N-terminal
Molecular
Reagents
less
  • All nucleic 78
    cDNA 75
    Primer pair 2
    Other 1

    Microarray probesets 3
References
more
  • Summaries
    All 52
    Developmental Gene Expression 14
    Gene Ontology 7
    Phenotypes 21
  • Earliest
    J:53204 Itoh H, et al., Hepatocyte growth factor activator inhibitor type 2 lacking the first Kunitz-type serine proteinase inhibitor domain is a predominant product in mouse but not in human. Biochem Biophys Res Commun. 1999 Feb 24;255(3):740-8
  • 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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory