About   Help   FAQ
Krit1 Gene Detail
Summary
  • Symbol
    Krit1
  • Name
    KRIT1, ankyrin repeat containing
  • Synonyms
    2010007K12Rik, A630036P20Rik, Ccm1, Krit1, Krit1A, Krit1B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930618
    NCBI Gene: 79264
  • Gene Overview
    MyGene.info: KRIT1
Location & Maps
more
  • Genetic Map
    Chromosome 5, 2.26 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    KRIT1, KRIT1, ankyrin repeat containing
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KRIT1, KRIT1, ankyrin repeat containing
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAM, CCM1
  • Links
    NCBI Gene ID: 889
    neXtProt AC: NX_O00522

  • Chr Location
    7q21.2; chr7:92198969-92246128 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 12746
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: KRIT1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Krit1 mouse models; 1 with human KRIT1 associations

Human Disease Mouse Models
       Cerebral Cavernous Malformations; CCM   OMIM: 116860 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 6 alleles in 6 genetic backgrounds
    19 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.
Targeted disruption of this gene results in embryonic lethality by E11. Embryos display prominent vascular defects that disrupt arterial modeling and phenocopy the human disorder of cerebral cavernous malformations.
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 OTTMUSG00000053024 VEGA Gene Model | MGI Sequence Detail 42381 C57BL/6J ±  kb
transcript OTTMUST00000132640 VEGA | MGI Sequence Detail 2930 Not Applicable  
polypeptide OTTMUSP00000070695 VEGA | MGI Sequence Detail 736 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    142 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    cDNA 32
    Primer pair 1

    Microarray probesets 9
Other
Accession IDs
less
MGI:1917359, MGI:2140894, MGI:2140944, MGI:2444493, MGI:3034244, MGI:3034645, MGI:3035098
References
more
  • Summaries
    All 60
    Developmental Gene Expression 7
    Diseases 3
    Gene Ontology 11
    Phenotypes 19
  • Earliest
    J:66942 Zhang J, et al., Cloning of the Murine Krit1 cDNA Reveals Novel Mammalian 5' Coding Exons. Genomics. 2000 Dec 15;70(3):392-5
  • Latest
    J:232707 Zhou Z, et al., Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. Nature. 2016 Apr 7;532(7597):122-6

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
09/27/2016
MGI 6.05
The Jackson Laboratory