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KRTAP11-1 (keratin associated protein 11-1)

Identity

Alias_symbol (synonym)KAP11.1
Other aliasHACL-1
HACL1
HGNC (Hugo) KRTAP11-1
LocusID (NCBI) 337880
Atlas_Id 65063
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 30880645 and ends at 30881555 bp from pter ( according to hg38-Dec_2013)

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)KRTAP11-1   18922
Cards
Entrez_Gene (NCBI)KRTAP11-1  337880  keratin associated protein 11-1
AliasesHACL-1; HACL1; KAP11.1
GeneCards (Weizmann)KRTAP11-1
Ensembl hg19 (Hinxton)ENSG00000182591 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182591 [Gene_View]  chr21:30880645-30881555 [Contig_View]  KRTAP11-1 [Vega]
ICGC DataPortalENSG00000182591
TCGA cBioPortalKRTAP11-1
AceView (NCBI)KRTAP11-1
Genatlas (Paris)KRTAP11-1
WikiGenes337880
SOURCE (Princeton)KRTAP11-1
Genetics Home Reference (NIH)KRTAP11-1
Genomic and cartography
GoldenPath hg38 (UCSC)KRTAP11-1  -     chr21:30880645-30881555 -  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KRTAP11-1  -     21q22.11   [Description]    (hg19-Feb_2009)
EnsemblKRTAP11-1 - 21q22.11 [CytoView hg19]  KRTAP11-1 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBIKRTAP11-1 [Mapview hg19]  KRTAP11-1 [Mapview hg38]
OMIM600064   
Gene and transcription
Genbank (Entrez)AB096963 AJ457065 BC130555 BC130557
RefSeq transcript (Entrez)NM_175858
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KRTAP11-1
Cluster EST : UnigeneHs.407654 [ NCBI ]
CGAP (NCI)Hs.407654
Alternative Splicing GalleryENSG00000182591
Gene ExpressionKRTAP11-1 [ NCBI-GEO ]   KRTAP11-1 [ EBI - ARRAY_EXPRESS ]   KRTAP11-1 [ SEEK ]   KRTAP11-1 [ MEM ]
Gene Expression Viewer (FireBrowse)KRTAP11-1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)337880
GTEX Portal (Tissue expression)KRTAP11-1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUC1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUC1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUC1
Splice isoforms : SwissVarQ8IUC1
PhosPhoSitePlusQ8IUC1
Domains : Interpro (EBI)Keratin_matx    KRTAP_PMG   
Domain families : Pfam (Sanger)PMG (PF05287)   
Domain families : Pfam (NCBI)pfam05287   
Domain structure : Prodom (Prabi Lyon)Keratin_matx (PD010562)   
Conserved Domain (NCBI)KRTAP11-1
DMDM Disease mutations337880
Blocks (Seattle)KRTAP11-1
SuperfamilyQ8IUC1
Human Protein AtlasENSG00000182591
Peptide AtlasQ8IUC1
HPRD11196
IPIIPI00216711   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUC1
IntAct (EBI)Q8IUC1
FunCoupENSG00000182591
BioGRIDKRTAP11-1
STRING (EMBL)KRTAP11-1
ZODIACKRTAP11-1
Ontologies - Pathways
QuickGOQ8IUC1
Ontology : AmiGOstructural molecule activity  cytosol  keratinization  keratin filament  
Ontology : EGO-EBIstructural molecule activity  cytosol  keratinization  keratin filament  
NDEx NetworkKRTAP11-1
Atlas of Cancer Signalling NetworkKRTAP11-1
Wikipedia pathwaysKRTAP11-1
Orthology - Evolution
OrthoDB337880
GeneTree (enSembl)ENSG00000182591
Phylogenetic Trees/Animal Genes : TreeFamKRTAP11-1
HOVERGENQ8IUC1
HOGENOMQ8IUC1
Homologs : HomoloGeneKRTAP11-1
Homology/Alignments : Family Browser (UCSC)KRTAP11-1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKRTAP11-1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KRTAP11-1
dbVarKRTAP11-1
ClinVarKRTAP11-1
1000_GenomesKRTAP11-1 
Exome Variant ServerKRTAP11-1
ExAC (Exome Aggregation Consortium)KRTAP11-1 (select the gene name)
Genetic variants : HAPMAP337880
Genomic Variants (DGV)KRTAP11-1 [DGVbeta]
DECIPHERKRTAP11-1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKRTAP11-1 
Mutations
ICGC Data PortalKRTAP11-1 
TCGA Data PortalKRTAP11-1 
Broad Tumor PortalKRTAP11-1
OASIS PortalKRTAP11-1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKRTAP11-1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKRTAP11-1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KRTAP11-1
DgiDB (Drug Gene Interaction Database)KRTAP11-1
DoCM (Curated mutations)KRTAP11-1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KRTAP11-1 (select a term)
intoGenKRTAP11-1
Cancer3DKRTAP11-1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600064   
Orphanet
MedgenKRTAP11-1
Genetic Testing Registry KRTAP11-1
NextProtQ8IUC1 [Medical]
TSGene337880
GENETestsKRTAP11-1
Target ValidationKRTAP11-1
Huge Navigator KRTAP11-1 [HugePedia]
snp3D : Map Gene to Disease337880
BioCentury BCIQKRTAP11-1
ClinGenKRTAP11-1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD337880
Chemical/Pharm GKB GenePA134907329
Clinical trialKRTAP11-1
Miscellaneous
canSAR (ICR)KRTAP11-1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKRTAP11-1
EVEXKRTAP11-1
GoPubMedKRTAP11-1
iHOPKRTAP11-1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:12:15 CEST 2017

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