Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KRT1 (keratin 1)

Identity

Other namesCK1
EHK
EHK1
EPPK
K1
KRT1A
NEPPK
HGNC (Hugo) KRT1
LocusID (NCBI) 3848
Location 12q13.13
Location_base_pair Starts at 53068520 and ends at 53074191 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

External links

Nomenclature
HGNC (Hugo)KRT1   6412
Cards
Entrez_Gene (NCBI)KRT1  3848  keratin 1
GeneCards (Weizmann)KRT1
Ensembl (Hinxton)ENSG00000167768 [Gene_View]  chr12:53068520-53074191 [Contig_View]  KRT1 [Vega]
ICGC DataPortalENSG00000167768
cBioPortalKRT1
AceView (NCBI)KRT1
Genatlas (Paris)KRT1
WikiGenes3848
SOURCE (Princeton)NM_006121
Genomic and cartography
GoldenPath (UCSC)KRT1  -  12q13.13   chr12:53068520-53074191 -  12q13.13   [Description]    (hg19-Feb_2009)
EnsemblKRT1 - 12q13.13 [CytoView]
Mapping of homologs : NCBIKRT1 [Mapview]
OMIM113800   139350   144200   146590   600962   607602   607654   
Gene and transcription
Genbank (Entrez)AK313986 BC063697 DB112126 M10938
RefSeq transcript (Entrez)NM_006121
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_008364 NT_029419 NW_001838059 NW_004929384
Consensus coding sequences : CCDS (NCBI)KRT1
Cluster EST : UnigeneHs.80828 [ NCBI ]
CGAP (NCI)Hs.80828
Alternative Splicing : Fast-db (Paris)GSHG0007492
Alternative Splicing GalleryENSG00000167768
Gene ExpressionKRT1 [ NCBI-GEO ]     KRT1 [ SEEK ]   KRT1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04264 (Uniprot)
NextProtP04264  [Medical]
With graphics : InterProP04264
Splice isoforms : SwissVarP04264 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF [organisation]   Intermediate_filament_CS [organisation]   Keratin_II [organisation]  
Related proteins : CluSTrP04264
Domain families : Pfam (Sanger)Filament (PF00038)   
Domain families : Pfam (NCBI)pfam00038   
DMDM Disease mutations3848
Blocks (Seattle)P04264
Human Protein AtlasENSG00000167768 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP04264
HPRD00763
IPIIPI00220327   
Protein Interaction databases
DIP (DOE-UCLA)P04264
IntAct (EBI)P04264
FunCoupENSG00000167768
BioGRIDKRT1
InParanoidP04264
Interologous Interaction database P04264
IntegromeDBKRT1
STRING (EMBL)KRT1
Ontologies - Pathways
Ontology : AmiGOcomplement activation, lectin pathway  retina homeostasis  receptor activity  structural molecule activity  protein binding  extracellular space  nucleus  cytoskeleton  plasma membrane  response to oxidative stress  membrane  carbohydrate binding  fibrinolysis  keratin filament  regulation of angiogenesis  extracellular vesicular exosome  blood microparticle  
Ontology : EGO-EBIcomplement activation, lectin pathway  retina homeostasis  receptor activity  structural molecule activity  protein binding  extracellular space  nucleus  cytoskeleton  plasma membrane  response to oxidative stress  membrane  carbohydrate binding  fibrinolysis  keratin filament  regulation of angiogenesis  extracellular vesicular exosome  blood microparticle  
Protein Interaction DatabaseKRT1
Wikipedia pathwaysKRT1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KRT1
snp3D : Map Gene to Disease3848
SNP (GeneSNP Utah)KRT1
SNP : HGBaseKRT1
Genetic variants : HAPMAPKRT1
Exome VariantKRT1
1000_GenomesKRT1 
ICGC programENSG00000167768 
Somatic Mutations in Cancer : COSMICKRT1 
CONAN: Copy Number AnalysisKRT1 
Mutations and Diseases : HGMDKRT1
Mutations and Diseases : intOGenKRT1
Genomic VariantsKRT1  KRT1 [DGVbeta]
dbVarKRT1
ClinVarKRT1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM113800    139350    144200    146590    600962    607602    607654   
MedgenKRT1
GENETestsKRT1
Disease Genetic AssociationKRT1
Huge Navigator KRT1 [HugePedia]  KRT1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneKRT1
Homology/Alignments : Family Browser (UCSC)KRT1
Phylogenetic Trees/Animal Genes : TreeFamKRT1
Chemical/Protein Interactions : CTD3848
Chemical/Pharm GKB GenePA30199
Clinical trialKRT1
Cancer Resource (Charite)ENSG00000167768
Other databases
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
CoreMineKRT1
iHOPKRT1
OncoSearchKRT1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:58:42 CEST 2014

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