Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KRT1 (keratin 1)

Identity

Alias_namesEHK1
epidermolytic hyperkeratosis 1
keratin 1, type II
Alias_symbol (synonym)KRT1A
HGNC (Hugo) KRT1
LocusID (NCBI) 3848
Atlas_Id 52837
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 53068520 and ends at 53074191 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KRT1 (12q13.13) / TMPO (12q23.1)UBE2R2 (9p13.3) / KRT1 (12q13.13)

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)KRT1   6412
Cards
Entrez_Gene (NCBI)KRT1  3848  keratin 1
AliasesCK1; EHK; EHK1; EPPK; 
K1; KRT1A; NEPPK
GeneCards (Weizmann)KRT1
Ensembl hg19 (Hinxton)ENSG00000167768 [Gene_View]  chr12:53068520-53074191 [Contig_View]  KRT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167768 [Gene_View]  chr12:53068520-53074191 [Contig_View]  KRT1 [Vega]
ICGC DataPortalENSG00000167768
TCGA cBioPortalKRT1
AceView (NCBI)KRT1
Genatlas (Paris)KRT1
WikiGenes3848
SOURCE (Princeton)KRT1
Genetics Home Reference (NIH)KRT1
Genomic and cartography
GoldenPath hg19 (UCSC)KRT1  -     chr12:53068520-53074191 -  12q13.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KRT1  -     12q13.13   [Description]    (hg38-Dec_2013)
EnsemblKRT1 - 12q13.13 [CytoView hg19]  KRT1 - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBIKRT1 [Mapview hg19]  KRT1 [Mapview hg38]
OMIM113800   139350   144200   146590   600962   607602   607654   
Gene and transcription
Genbank (Entrez)AK313986 BC063697 DB112126 M10938
RefSeq transcript (Entrez)NM_006121
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008364 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)KRT1
Cluster EST : UnigeneHs.80828 [ NCBI ]
CGAP (NCI)Hs.80828
Alternative Splicing GalleryENSG00000167768
Gene ExpressionKRT1 [ NCBI-GEO ]   KRT1 [ EBI - ARRAY_EXPRESS ]   KRT1 [ SEEK ]   KRT1 [ MEM ]
Gene Expression Viewer (FireBrowse)KRT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3848
GTEX Portal (Tissue expression)KRT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04264   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04264  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04264
Splice isoforms : SwissVarP04264
PhosPhoSitePlusP04264
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermediate_filament_CS    Keratin_2_1_tail    Keratin_2_head    Keratin_II   
Domain families : Pfam (Sanger)Filament (PF00038)    Keratin_2_head (PF16208)    Keratin_2_tail (PF16210)   
Domain families : Pfam (NCBI)pfam00038    pfam16208    pfam16210   
Conserved Domain (NCBI)KRT1
DMDM Disease mutations3848
Blocks (Seattle)KRT1
SuperfamilyP04264
Human Protein AtlasENSG00000167768
Peptide AtlasP04264
HPRD00763
IPIIPI00220327   
Protein Interaction databases
DIP (DOE-UCLA)P04264
IntAct (EBI)P04264
FunCoupENSG00000167768
BioGRIDKRT1
STRING (EMBL)KRT1
ZODIACKRT1
Ontologies - Pathways
QuickGOP04264
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  extracellular matrix  fibrinolysis  keratin filament  regulation of angiogenesis  negative regulation of inflammatory response  establishment of skin barrier  extracellular 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  extracellular matrix  fibrinolysis  keratin filament  regulation of angiogenesis  negative regulation of inflammatory response  establishment of skin barrier  extracellular exosome  blood microparticle  
NDEx NetworkKRT1
Atlas of Cancer Signalling NetworkKRT1
Wikipedia pathwaysKRT1
Orthology - Evolution
OrthoDB3848
GeneTree (enSembl)ENSG00000167768
Phylogenetic Trees/Animal Genes : TreeFamKRT1
HOVERGENP04264
HOGENOMP04264
Homologs : HomoloGeneKRT1
Homology/Alignments : Family Browser (UCSC)KRT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRT1
dbVarKRT1
ClinVarKRT1
1000_GenomesKRT1 
Exome Variant ServerKRT1
ExAC (Exome Aggregation Consortium)KRT1 (select the gene name)
Genetic variants : HAPMAP3848
Genomic Variants (DGV)KRT1 [DGVbeta]
DECIPHER (Syndromes)12:53068520-53074191  ENSG00000167768
CONAN: Copy Number AnalysisKRT1 
Mutations
ICGC Data PortalKRT1 
TCGA Data PortalKRT1 
Broad Tumor PortalKRT1
OASIS PortalKRT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKRT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch KRT1
DgiDB (Drug Gene Interaction Database)KRT1
DoCM (Curated mutations)KRT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRT1 (select a term)
intoGenKRT1
Cancer3DKRT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM113800    139350    144200    146590    600962    607602    607654   
Orphanet2079    2082    20532    20530    10662    11529   
MedgenKRT1
Genetic Testing Registry KRT1
NextProtP04264 [Medical]
TSGene3848
GENETestsKRT1
Huge Navigator KRT1 [HugePedia]
snp3D : Map Gene to Disease3848
BioCentury BCIQKRT1
ClinGenKRT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3848
Chemical/Pharm GKB GenePA30199
Clinical trialKRT1
Miscellaneous
canSAR (ICR)KRT1 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRT1
EVEXKRT1
GoPubMedKRT1
iHOPKRT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:41:27 CET 2016

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