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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

HCOP human homology predictions: KRIT1
Gene Tree: Krit1

Human
homologs
KRIT1, KRIT1, ankyrin repeat containing
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 889
neXtProt AC: NX_O00522

Human Synonyms: CAM, CCM1

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

Disease Associations: (1) Diseases Associated with Human KRIT1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(2) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Krit1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Krit1 interacts with 385 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 GTPase regulator activity, microtubule binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (323)    Tissues (243)    Images (58)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 323
cDNA source data(28)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase krit1 ; ZFIN krit1    NEW 
Molecular
reagents
All nucleic(33) cDNA(32) Primer pair(1)
Microarray probesets(9)
Other database
links
Ensembl Gene Model ENSMUSG00000000600 (Evidence)
Entrez Gene 79264 (Evidence)
DFCI TC1662243, TC1647663, TC1578285, TC1610039, TC1606818, TC1585377, TC1589604, TC1638455, TC1618220, TC1612689, TC1637863, TC1620698, TC1713505
Consensus CDS Project CCDS39002.1, CCDS51409.1
International Mouse Phenotyping Consortium Status Krit1
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(77) 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:218293 DiStefano PV, et al., KRIT1 protein depletion modifies endothelial cell behavior via increased vascular endothelial growth factor (VEGF) signaling. J Biol Chem. 2014 Nov 21;289(47):33054-65
All references(57)
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
06/23/2015
MGI 5.22
The Jackson Laboratory