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KLHL17 (kelch like family member 17)

Identity

Alias_nameskelch-like 17 (Drosophila)
Other alias-
HGNC (Hugo) KLHL17
LocusID (NCBI) 339451
Atlas_Id 64964
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 960587 and ends at 965719 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
OGFR (20q13.33) / KLHL17 (1p36.33)TXNIP (1q21.1) / KLHL17 (1p36.33)

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)KLHL17   24023
Cards
Entrez_Gene (NCBI)KLHL17  339451  kelch like family member 17
Aliases
GeneCards (Weizmann)KLHL17
Ensembl hg19 (Hinxton)ENSG00000187961 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187961 [Gene_View]  chr1:960587-965719 [Contig_View]  KLHL17 [Vega]
ICGC DataPortalENSG00000187961
TCGA cBioPortalKLHL17
AceView (NCBI)KLHL17
Genatlas (Paris)KLHL17
WikiGenes339451
SOURCE (Princeton)KLHL17
Genetics Home Reference (NIH)KLHL17
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL17  -     chr1:960587-965719 +  1p36.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL17  -     1p36.33   [Description]    (hg19-Feb_2009)
EnsemblKLHL17 - 1p36.33 [CytoView hg19]  KLHL17 - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIKLHL17 [Mapview hg19]  KLHL17 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA774437 AK127585 AK293258 AY423763 BC033192
RefSeq transcript (Entrez)NM_198317
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL17
Cluster EST : UnigeneHs.109212 [ NCBI ]
CGAP (NCI)Hs.109212
Alternative Splicing GalleryENSG00000187961
Gene ExpressionKLHL17 [ NCBI-GEO ]   KLHL17 [ EBI - ARRAY_EXPRESS ]   KLHL17 [ SEEK ]   KLHL17 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)339451
GTEX Portal (Tissue expression)KLHL17
Human Protein AtlasENSG00000187961-KLHL17 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6TDP4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6TDP4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6TDP4
Splice isoforms : SwissVarQ6TDP4
PhosPhoSitePlusQ6TDP4
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Gal_Oxase/kelch_b-propeller    Gal_Oxidase_b-propeller    Kelch_1    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam01344   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)KLHL17
DMDM Disease mutations339451
Blocks (Seattle)KLHL17
SuperfamilyQ6TDP4
Human Protein Atlas [tissue]ENSG00000187961-KLHL17 [tissue]
Peptide AtlasQ6TDP4
HPRD13926
IPIIPI00418437   IPI01010975   IPI01013997   IPI00329191   
Protein Interaction databases
DIP (DOE-UCLA)Q6TDP4
IntAct (EBI)Q6TDP4
FunCoupENSG00000187961
BioGRIDKLHL17
STRING (EMBL)KLHL17
ZODIACKLHL17
Ontologies - Pathways
QuickGOQ6TDP4
Ontology : AmiGOubiquitin-protein transferase activity  extracellular space  brain development  postsynaptic density  actin cytoskeleton  actin cytoskeleton  protein ubiquitination  actin cytoskeleton organization  actin cytoskeleton organization  cell junction  POZ domain binding  Cul3-RING ubiquitin ligase complex  dendrite cytoplasm  protein complex scaffold  neuronal cell body  postsynaptic membrane  actin filament binding  
Ontology : EGO-EBIubiquitin-protein transferase activity  extracellular space  brain development  postsynaptic density  actin cytoskeleton  actin cytoskeleton  protein ubiquitination  actin cytoskeleton organization  actin cytoskeleton organization  cell junction  POZ domain binding  Cul3-RING ubiquitin ligase complex  dendrite cytoplasm  protein complex scaffold  neuronal cell body  postsynaptic membrane  actin filament binding  
NDEx NetworkKLHL17
Atlas of Cancer Signalling NetworkKLHL17
Wikipedia pathwaysKLHL17
Orthology - Evolution
OrthoDB339451
GeneTree (enSembl)ENSG00000187961
Phylogenetic Trees/Animal Genes : TreeFamKLHL17
HOVERGENQ6TDP4
HOGENOMQ6TDP4
Homologs : HomoloGeneKLHL17
Homology/Alignments : Family Browser (UCSC)KLHL17
Gene fusions - Rearrangements
Fusion: Tumor Portal KLHL17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL17
dbVarKLHL17
ClinVarKLHL17
1000_GenomesKLHL17 
Exome Variant ServerKLHL17
ExAC (Exome Aggregation Consortium)ENSG00000187961
GNOMAD BrowserENSG00000187961
Genetic variants : HAPMAP339451
Genomic Variants (DGV)KLHL17 [DGVbeta]
DECIPHERKLHL17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL17 
Mutations
ICGC Data PortalKLHL17 
TCGA Data PortalKLHL17 
Broad Tumor PortalKLHL17
OASIS PortalKLHL17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL17
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
BioMutasearch KLHL17
DgiDB (Drug Gene Interaction Database)KLHL17
DoCM (Curated mutations)KLHL17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL17 (select a term)
intoGenKLHL17
Cancer3DKLHL17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenKLHL17
Genetic Testing Registry KLHL17
NextProtQ6TDP4 [Medical]
TSGene339451
GENETestsKLHL17
Target ValidationKLHL17
Huge Navigator KLHL17 [HugePedia]
snp3D : Map Gene to Disease339451
BioCentury BCIQKLHL17
ClinGenKLHL17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD339451
Chemical/Pharm GKB GenePA134887396
Clinical trialKLHL17
Miscellaneous
canSAR (ICR)KLHL17 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL17
EVEXKLHL17
GoPubMedKLHL17
iHOPKLHL17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:52:40 CET 2017

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