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Spink5 Gene Detail
Summary
  • Symbol
    Spink5
  • Name
    serine peptidase inhibitor, Kazal type 5
  • Synonyms
    2310065D10Rik, LEKT1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919682
    NCBI Gene: 72432
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:44096302-44155568 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 23.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1787 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919682
 protein coding gene Chr18:44092612-44155568 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024390
 protein coding gene Chr18:42696808-42758980 (+)
A/J MGP_AJ_G0024357
 protein coding gene Chr18:41192417-41251568 (+)
AKR/J MGP_AKRJ_G0024326
 protein coding gene Chr18:42348755-42407577 (+)
BALB/cJ MGP_BALBcJ_G0024357
 protein coding gene Chr18:41271374-41330840 (+)
C3H/HeJ MGP_C3HHeJ_G0024124
 protein coding gene Chr18:42375440-42435784 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024801
 protein coding gene Chr18:44185701-44251352 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022237
 protein coding gene Chr18:40980401-41039854 (+)
CAST/EiJ MGP_CASTEiJ_G0023598
 protein coding gene Chr18:42360510-42422587 (+)
CBA/J MGP_CBAJ_G0024093
 protein coding gene Chr18:45391342-45449769 (+)
DBA/2J MGP_DBA2J_G0024223
 protein coding gene Chr18:40787969-40847339 (+)
FVB/NJ MGP_FVBNJ_G0024189
 protein coding gene Chr18:40392199-40452091 (+)
LP/J MGP_LPJ_G0024307
 protein coding gene Chr18:42727073-42788890 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024220
 protein coding gene Chr18:46739020-46808605 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024848
 protein coding gene Chr18:42207519-42269135 (+)
PWK/PhJ MGP_PWKPhJ_G0023342
 protein coding gene Chr18:40995539-41056833 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023147
 protein coding gene Chr18:42448752-42507854 (+)
WSB/EiJ MGP_WSBEiJ_G0023661
 protein coding gene Chr18:42123117-42187530 (+)



Homology
more
  • Human Ortholog
    SPINK5, serine peptidase inhibitor Kazal type 5
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPINK5, serine peptidase inhibitor Kazal type 5
  • Synonyms
    LEKTI, LETKI, NETS, NS, VAKTI
  • Links
    NCBI Gene ID: 11005
    neXtProt AC: NX_Q9NQ38
    UniProt: Q9NQ38

  • Chr Location
    5q32; chr5:148025683-148137382 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spink5 mouse models; 1 with human SPINK5 associations

Human Disease Mouse Models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 5 alleles in 5 genetic backgrounds
    11 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.
Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    4
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
    717
  • Tissues
    3
  • cDNA Data
    22
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055561 Ensembl Gene Model | MGI Sequence Detail 59267 C57BL/6J ±  kb
    transcript ENSMUST00000069245 Ensembl | MGI Sequence Detail 4785 Not Applicable  
    polypeptide ENSMUSP00000066214 Ensembl | MGI Sequence Detail 1017 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR002350 Kazal domain
      IPR036058 Kazal domain superfamily
      IPR050159 Kazal-type Serine Protease Inhibitor
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 22
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2147337
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Diseases 5
      Gene Ontology 4
      Phenotypes 21
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:357366 Petrova E, et al., Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways. Commun Biol. 2024 Feb 5;7(1):152
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory