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KRIT1 (KRIT1, ankyrin repeat containing)

Identity

Other namesCAM
CCM1
HGNC (Hugo) KRIT1
LocusID (NCBI) 889
Atlas_Id 948
Location 7q21.2
Location_base_pair Starts at 91828283 and ends at 91875228 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)KRIT1   1573
Cards
Entrez_Gene (NCBI)KRIT1  889  KRIT1, ankyrin repeat containing
GeneCards (Weizmann)KRIT1
Ensembl hg19 (Hinxton)ENSG00000001631 [Gene_View]  chr7:91828283-91875228 [Contig_View]  KRIT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000001631 [Gene_View]  chr7:91828283-91875228 [Contig_View]  KRIT1 [Vega]
ICGC DataPortalENSG00000001631
TCGA cBioPortalKRIT1
AceView (NCBI)KRIT1
Genatlas (Paris)KRIT1
WikiGenes889
SOURCE (Princeton)KRIT1
Genomic and cartography
GoldenPath hg19 (UCSC)KRIT1  -     chr7:91828283-91875228 -  7q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KRIT1  -     7q21.2   [Description]    (hg38-Dec_2013)
EnsemblKRIT1 - 7q21.2 [CytoView hg19]  KRIT1 - 7q21.2 [CytoView hg38]
Mapping of homologs : NCBIKRIT1 [Mapview hg19]  KRIT1 [Mapview hg38]
OMIM116860   604214   
Gene and transcription
Genbank (Entrez)AF296765 AF310133 AF388384 AJ294850 AK055305
RefSeq transcript (Entrez)NM_001013406 NM_004912 NM_194454 NM_194455 NM_194456
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_012964 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)KRIT1
Cluster EST : UnigeneHs.531987 [ NCBI ]
CGAP (NCI)Hs.531987
Alternative Splicing : Fast-db (Paris)GSHG0028346
Alternative Splicing GalleryENSG00000001631
Gene ExpressionKRIT1 [ NCBI-GEO ]     KRIT1 [ SEEK ]   KRIT1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00522 (Uniprot)
NextProtO00522  [Medical]  [Publications]
With graphics : InterProO00522
Splice isoforms : SwissVarO00522 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_domain   
Related proteins : CluSTrO00522
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    FERM_M (PF00373)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00373   
Domain families : Smart (EMBL)ANK (SM00248)  B41 (SM00295)  
DMDM Disease mutations889
Blocks (Seattle)O00522
PDB (SRS)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF    4TKN   
PDB (PDBSum)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF    4TKN   
PDB (IMB)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF    4TKN   
PDB (RSDB)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF    4TKN   
Human Protein AtlasENSG00000001631
Peptide AtlasO00522
HPRD05020
IPIIPI00418142   IPI00651671   IPI00926941   IPI00554504   IPI00926018   IPI00924535   IPI00927295   IPI00927907   IPI00925092   IPI00927091   IPI00926375   IPI00926503   IPI00927666   IPI00927951   IPI00925440   IPI00925596   
Protein Interaction databases
DIP (DOE-UCLA)O00522
IntAct (EBI)O00522
FunCoupENSG00000001631
BioGRIDKRIT1
IntegromeDBKRIT1
STRING (EMBL)KRIT1
Ontologies - Pathways
QuickGOO00522
Ontology : AmiGOangiogenesis  negative regulation of endothelial cell proliferation  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular space  cytoplasm  microtubule  plasma membrane  cell-cell junction  small GTPase mediated signal transduction  microtubule binding  negative regulation of endothelial cell migration  negative regulation of angiogenesis  GTPase regulator activity  positive regulation of protein binding  protein complex binding  cell redox homeostasis  regulation of catalytic activity  regulation of establishment of cell polarity  negative regulation of endothelial cell apoptotic process  
Ontology : EGO-EBIangiogenesis  negative regulation of endothelial cell proliferation  protein binding  phosphatidylinositol-4,5-bisphosphate binding  extracellular space  cytoplasm  microtubule  plasma membrane  cell-cell junction  small GTPase mediated signal transduction  microtubule binding  negative regulation of endothelial cell migration  negative regulation of angiogenesis  GTPase regulator activity  positive regulation of protein binding  protein complex binding  cell redox homeostasis  regulation of catalytic activity  regulation of establishment of cell polarity  negative regulation of endothelial cell apoptotic process  
Pathways : KEGGRap1 signaling pathway   
Protein Interaction DatabaseKRIT1
DoCM (Curated mutations)KRIT1
Wikipedia pathwaysKRIT1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerKRIT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRIT1
dbVarKRIT1
ClinVarKRIT1
1000_GenomesKRIT1 
Exome Variant ServerKRIT1
SNP (GeneSNP Utah)KRIT1
SNP : HGBaseKRIT1
Genetic variants : HAPMAPKRIT1
Genomic Variants (DGV)KRIT1 [DGVbeta]
Mutations
ICGC Data PortalKRIT1 
TCGA Data PortalKRIT1 
Tumor PortalKRIT1
Somatic Mutations in Cancer : COSMICKRIT1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:91828283-91875228
CONAN: Copy Number AnalysisKRIT1 
Mutations and Diseases : HGMDKRIT1
OMIM116860    604214   
MedgenKRIT1
NextProtO00522 [Medical]
GENETestsKRIT1
Disease Genetic AssociationKRIT1
Huge Navigator KRIT1 [HugePedia]  KRIT1 [HugeCancerGEM]
snp3D : Map Gene to Disease889
DGIdb (Drug Gene Interaction db)KRIT1
BioCentury BCIQKRIT1
General knowledge
Homologs : HomoloGeneKRIT1
Homology/Alignments : Family Browser (UCSC)KRIT1
Phylogenetic Trees/Animal Genes : TreeFamKRIT1
Chemical/Protein Interactions : CTD889
Chemical/Pharm GKB GenePA26144
Clinical trialKRIT1
Cancer Resource (Charite)ENSG00000001631
Other databases
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
CoreMineKRIT1
GoPubMedKRIT1
iHOPKRIT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:46:32 CEST 2015

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