Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL3 (kelch like family member 3)

Identity

Alias_nameskelch (Drosophila)-like 3
kelch-like 3 (Drosophila)
Alias_symbol (synonym)KIAA1129
Other aliasPHA2D
HGNC (Hugo) KLHL3
LocusID (NCBI) 26249
Atlas_Id 64972
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 137617500 and ends at 137721310 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KLHL3 (5q31.2) / C16orf45 (16p13.11)KLHL3 (5q31.2) / MAPKBP1 (15q15.1)SLC25A11 (17p13.2) / KLHL3 (5q31.2)

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)KLHL3   6354
Cards
Entrez_Gene (NCBI)KLHL3  26249  kelch like family member 3
AliasesPHA2D
GeneCards (Weizmann)KLHL3
Ensembl hg19 (Hinxton)ENSG00000146021 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146021 [Gene_View]  chr5:137617500-137721310 [Contig_View]  KLHL3 [Vega]
ICGC DataPortalENSG00000146021
TCGA cBioPortalKLHL3
AceView (NCBI)KLHL3
Genatlas (Paris)KLHL3
WikiGenes26249
SOURCE (Princeton)KLHL3
Genetics Home Reference (NIH)KLHL3
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL3  -     chr5:137617500-137721310 -  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL3  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblKLHL3 - 5q31.2 [CytoView hg19]  KLHL3 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIKLHL3 [Mapview hg19]  KLHL3 [Mapview hg38]
OMIM605775   614495   
Gene and transcription
Genbank (Entrez)AB032955 AF208068 AF208069 AF208070 AK300172
RefSeq transcript (Entrez)NM_001257194 NM_001257195 NM_017415
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL3
Cluster EST : UnigeneHs.655084 [ NCBI ]
CGAP (NCI)Hs.655084
Alternative Splicing GalleryENSG00000146021
Gene ExpressionKLHL3 [ NCBI-GEO ]   KLHL3 [ EBI - ARRAY_EXPRESS ]   KLHL3 [ SEEK ]   KLHL3 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26249
GTEX Portal (Tissue expression)KLHL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UH77   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UH77  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UH77
Splice isoforms : SwissVarQ9UH77
PhosPhoSitePlusQ9UH77
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    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)KLHL3
DMDM Disease mutations26249
Blocks (Seattle)KLHL3
PDB (SRS)4CH9    4HXI   
PDB (PDBSum)4CH9    4HXI   
PDB (IMB)4CH9    4HXI   
PDB (RSDB)4CH9    4HXI   
Structural Biology KnowledgeBase4CH9    4HXI   
SCOP (Structural Classification of Proteins)4CH9    4HXI   
CATH (Classification of proteins structures)4CH9    4HXI   
SuperfamilyQ9UH77
Human Protein AtlasENSG00000146021
Peptide AtlasQ9UH77
HPRD09011
IPIIPI00335279   IPI00219546   IPI00219547   IPI00921850   IPI01009995   IPI00964168   IPI00967597   
Protein Interaction databases
DIP (DOE-UCLA)Q9UH77
IntAct (EBI)Q9UH77
FunCoupENSG00000146021
BioGRIDKLHL3
STRING (EMBL)KLHL3
ZODIACKLHL3
Ontologies - Pathways
QuickGOQ9UH77
Ontology : AmiGOactin binding  ubiquitin-protein transferase activity  structural molecule activity  protein binding  cytosol  cytoskeleton  protein ubiquitination  protein ubiquitination  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  ion homeostasis  renal sodium ion absorption  protein K48-linked ubiquitination  distal tubule morphogenesis  
Ontology : EGO-EBIactin binding  ubiquitin-protein transferase activity  structural molecule activity  protein binding  cytosol  cytoskeleton  protein ubiquitination  protein ubiquitination  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  ion homeostasis  renal sodium ion absorption  protein K48-linked ubiquitination  distal tubule morphogenesis  
NDEx NetworkKLHL3
Atlas of Cancer Signalling NetworkKLHL3
Wikipedia pathwaysKLHL3
Orthology - Evolution
OrthoDB26249
GeneTree (enSembl)ENSG00000146021
Phylogenetic Trees/Animal Genes : TreeFamKLHL3
HOVERGENQ9UH77
HOGENOMQ9UH77
Homologs : HomoloGeneKLHL3
Homology/Alignments : Family Browser (UCSC)KLHL3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL3
dbVarKLHL3
ClinVarKLHL3
1000_GenomesKLHL3 
Exome Variant ServerKLHL3
ExAC (Exome Aggregation Consortium)KLHL3 (select the gene name)
Genetic variants : HAPMAP26249
Genomic Variants (DGV)KLHL3 [DGVbeta]
DECIPHERKLHL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL3 
Mutations
ICGC Data PortalKLHL3 
TCGA Data PortalKLHL3 
Broad Tumor PortalKLHL3
OASIS PortalKLHL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch KLHL3
DgiDB (Drug Gene Interaction Database)KLHL3
DoCM (Curated mutations)KLHL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL3 (select a term)
intoGenKLHL3
Cancer3DKLHL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605775    614495   
Orphanet21125   
MedgenKLHL3
Genetic Testing Registry KLHL3
NextProtQ9UH77 [Medical]
TSGene26249
GENETestsKLHL3
Target ValidationKLHL3
Huge Navigator KLHL3 [HugePedia]
snp3D : Map Gene to Disease26249
BioCentury BCIQKLHL3
ClinGenKLHL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26249
Chemical/Pharm GKB GenePA30144
Clinical trialKLHL3
Miscellaneous
canSAR (ICR)KLHL3 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL3
EVEXKLHL3
GoPubMedKLHL3
iHOPKLHL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:54:47 CEST 2017

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