Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KRIT1 (KRIT1, ankyrin repeat containing)

Identity

Other namesCAM
CCM1
HGNC (Hugo) KRIT1
LocusID (NCBI) 889
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 (Hinxton)ENSG00000001631 [Gene_View]  chr7:91828283-91875228 [Contig_View]  KRIT1 [Vega]
AceView (NCBI)KRIT1
Genatlas (Paris)KRIT1
WikiGenes889
SOURCE (Princeton)NM_001013406 NM_004912 NM_194454 NM_194455 NM_194456
Genomic and cartography
GoldenPath (UCSC)KRIT1  -  7q21.2   chr7:91828283-91875228 -  7q21.2   [Description]    (hg19-Feb_2009)
EnsemblKRIT1 - 7q21.2 [CytoView]
Mapping of homologs : NCBIKRIT1 [Mapview]
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)AC_000068 AC_000139 NC_000007 NC_018918 NG_012964 NT_007933 NT_079595 NW_001839064 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00522 (Uniprot)
NextProtO00522  [Medical]
With graphics : InterProO00522
Splice isoforms : SwissVarO00522 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    FERM_1 (PS00660)    FERM_2 (PS00661)    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   
PDB (PDBSum)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF   
PDB (IMB)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF   
PDB (RSDB)3U7D    4DX8    4DXA    4HDO    4HDQ    4JIF   
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
InParanoidO00522
Interologous Interaction database O00522
IntegromeDBKRIT1
STRING (EMBL)KRIT1
Ontologies - Pathways
Ontology : AmiGOangiogenesis  negative regulation of endothelial cell proliferation  small GTPase regulator activity  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  microtubule  plasma membrane  cell-cell junction  small GTPase mediated signal transduction  microtubule binding  negative regulation of endothelial cell migration  negative regulation of angiogenesis  positive regulation of protein binding  protein complex binding  cell redox homeostasis  regulation of establishment of cell polarity  negative regulation of endothelial cell apoptotic process  
Ontology : EGO-EBIangiogenesis  negative regulation of endothelial cell proliferation  small GTPase regulator activity  protein binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  microtubule  plasma membrane  cell-cell junction  small GTPase mediated signal transduction  microtubule binding  negative regulation of endothelial cell migration  negative regulation of angiogenesis  positive regulation of protein binding  protein complex binding  cell redox homeostasis  regulation of establishment of cell polarity  negative regulation of endothelial cell apoptotic process  
Pathways : KEGGRap1 signaling pathway   
REACTOMEKRIT1
Protein Interaction DatabaseKRIT1
Wikipedia pathwaysKRIT1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KRIT1
SNP (GeneSNP Utah)KRIT1
SNP : HGBaseKRIT1
Genetic variants : HAPMAPKRIT1
1000_GenomesKRIT1 
ICGC programENSG00000001631 
Somatic Mutations in Cancer : COSMICKRIT1 
CONAN: Copy Number AnalysisKRIT1 
Mutations and Diseases : HGMDKRIT1
OMIM116860    604214   
GENETestsKRIT1
Disease Genetic AssociationKRIT1
Huge Navigator KRIT1 [HugePedia]  KRIT1 [HugeCancerGEM]
Genomic VariantsKRIT1  KRIT1 [DGVbeta]
Exome VariantKRIT1
dbVarKRIT1
ClinVarKRIT1
snp3D : Map Gene to Disease889
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
PubMed74 Pubmed reference(s) in Entrez
CoreMineKRIT1
iHOPKRIT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:43:42 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.