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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:3853156-3894515 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 2.26 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    139 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930618
 protein coding gene Chr5:3853156-3895564 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029263
 protein coding gene Chr5:624250-666049 (+)
A/J MGP_AJ_G0029228
 protein coding gene Chr5:493776-536903 (+)
AKR/J MGP_AKRJ_G0029176
 protein coding gene Chr5:493650-537894 (+)
BALB/cJ MGP_BALBcJ_G0029245
 protein coding gene Chr5:727333-770071 (+)
C3H/HeJ MGP_C3HHeJ_G0028965
 protein coding gene Chr5:673788-718596 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029694
 protein coding gene Chr5:891135-938836 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026937
 protein coding gene Chr5:524958-572535 (+)
CAST/EiJ MGP_CASTEiJ_G0028377
 protein coding gene Chr5:700025-754947 (+)
CBA/J MGP_CBAJ_G0028927
 protein coding gene Chr5:792405-840794 (+)
DBA/2J MGP_DBA2J_G0029077
 protein coding gene Chr5:651952-695199 (+)
FVB/NJ MGP_FVBNJ_G0029039
 protein coding gene Chr5:557549-601047 (+)
LP/J MGP_LPJ_G0029167
 protein coding gene Chr5:658341-703609 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029066
 protein coding gene Chr5:624202-703006 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029725
 protein coding gene Chr5:624619-666907 (+)
PWK/PhJ MGP_PWKPhJ_G0028098
 protein coding gene Chr5:633927-677168 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027932
 protein coding gene Chr5:903219-955837 (+)
WSB/EiJ MGP_WSBEiJ_G0028457
 protein coding gene Chr5:654530-699900 (+)



Homology
more
  • Human Ortholog
    KRIT1, KRIT1 ankyrin repeat containing
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KRIT1, KRIT1 ankyrin repeat containing
  • Synonyms
    CAM, CCM1
  • Links
    NCBI Gene ID: 889
    neXtProt AC: NX_O00522
    UniProt: O00522

  • Chr Location
    7q21.2; chr7:92197498-92246166 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Krit1 mouse models; 2 with human KRIT1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 6 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    36 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
    39
  • GO References
    15
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
    1145
  • Tissues
    282
  • cDNA Data
    29
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 79264 NCBI Gene Model | MGI Sequence Detail 41360 C57BL/6J ±  kb
    transcript NR_033173 RefSeq | MGI Sequence Detail 6352 ZRU/MplStud  
    polypeptide Q6S5J6 UniProt | EBI | MGI Sequence Detail 736 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 33
      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 86
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 15
      Phenotypes 36
    • 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:339553 Romanos SG, et al., Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease. Transl Stroke Res. 2023 Aug;14(4):513-529
    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