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Krit1
Gene Detail
 Symbol
Name
ID
Krit1
KRIT1, ankyrin repeat containing
MGI:1930618
Synonyms 2010007K12Rik, A630036P20Rik, Ccm1, Krit1, Krit1A, Krit1B
Feature Type protein coding gene
Genetic Map
Chromosome 5
2.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr5:3803165-3844515 bp, + strand
From NCBI annotation of GRCm38

  41351 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12746  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Krit1

Human
homologs
Human Homolog KRIT1, KRIT1, ankyrin repeat containing
NCBI Gene ID 889
neXtProt AC  NX_O00522
Human Synonyms  CAM, CCM1
Human Chr (Location)  7q21.2; chr7:92198969-92246128 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human KRIT1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Krit1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Krit1 interacts with 386 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process angiogenesis, cell redox homeostasis, ...
Component cell, cell-cell junction, ...
Function microtubule binding, phosphatidylinositol-4,5-bisphosphate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (134)    Tissues (86)    Images (42)
Theiler Stages: 17, 19, 22, 23, 27, 28
Assay TypeResults
RNA in situ 134
cDNA source data(27)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) cDNA(31) Primer pair(1)
Microarray probesets(9)
Other database
links
Ensembl Gene ModelENSMUSG00000000600 (Evidence)
Entrez Gene79264 (Evidence)
DFCITC1578285, TC1585377, TC1589604, TC1606818, TC1610039, TC1612689, TC1618220, TC1620698, TC1637863, TC1638455, TC1647663, TC1662243, TC1713505
Consensus CDS ProjectCCDS39002.1, CCDS51409.1
International Mouse Knockout Project StatusKrit1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 79264 NCBI Gene Model | MGI Sequence Detail 41351 C57BL/6J ±  kb
transcript NR_033173 RefSeq | MGI Sequence Detail 6352 C57BL/6 
polypeptide Q6S5J6 UniProt | EBI | MGI Sequence Detail 736 Not Applicable 

For the selected sequences
All sequences(75) RefSeq(9) UniProt(3)
Polymorphisms SNPs within 2kb(139 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR019749 Band 4.1 domain
InterPro IPR014352 FERM/acyl-CoA-binding protein, 3-helical bundle
InterPro IPR019748 FERM central domain
InterPro IPR000299 FERM domain
Protein Ontology PR:000009448 krev interaction trapped protein 1
Graphical View of Protein Domain Structure
References (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:211883 Goitre L, et al., KRIT1 loss of function causes a ROS-dependent upregulation of c-Jun. Free Radic Biol Med. 2014 Mar;68:134-47
All references(55)
Disease annotation references (2)
Other
accession IDs
MGI:1917359, MGI:2140894, MGI:2140944, MGI:2444493, MGI:3034244, MGI:3034645, MGI:3035098

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
09/09/2014
MGI 5.19
The Jackson Laboratory