Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL1 (kelch like family member 1)

Identity

Alias_nameskelch (Drosophila)-like 1
kelch-like 1 (Drosophila)
Alias_symbol (synonym)KIAA1490
MRP2
FLJ30047
Other alias
HGNC (Hugo) KLHL1
LocusID (NCBI) 57626
Atlas_Id 50233
Location 13q21.33  [Link to chromosome band 13q21]
Location_base_pair Starts at 70274725 and ends at 70682625 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TMEM108 (3q22.1) / KLHL1 (13q21.33)

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)KLHL1   6352
Cards
Entrez_Gene (NCBI)KLHL1  57626  kelch like family member 1
AliasesMRP2
GeneCards (Weizmann)KLHL1
Ensembl hg19 (Hinxton)ENSG00000150361 [Gene_View]  chr13:70274725-70682625 [Contig_View]  KLHL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000150361 [Gene_View]  chr13:70274725-70682625 [Contig_View]  KLHL1 [Vega]
ICGC DataPortalENSG00000150361
TCGA cBioPortalKLHL1
AceView (NCBI)KLHL1
Genatlas (Paris)KLHL1
WikiGenes57626
SOURCE (Princeton)KLHL1
Genetics Home Reference (NIH)KLHL1
Genomic and cartography
GoldenPath hg19 (UCSC)KLHL1  -     chr13:70274725-70682625 -  13q21.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KLHL1  -     13q21.33   [Description]    (hg38-Dec_2013)
EnsemblKLHL1 - 13q21.33 [CytoView hg19]  KLHL1 - 13q21.33 [CytoView hg38]
Mapping of homologs : NCBIKLHL1 [Mapview hg19]  KLHL1 [Mapview hg38]
OMIM605332   
Gene and transcription
Genbank (Entrez)AB040923 AF252283 AK054609 AK291435 AK295939
RefSeq transcript (Entrez)NM_001286725 NM_020866
RefSeq genomic (Entrez)NC_000013 NC_018924 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)KLHL1
Cluster EST : UnigeneHs.508201 [ NCBI ]
CGAP (NCI)Hs.508201
Alternative Splicing GalleryENSG00000150361
Gene ExpressionKLHL1 [ NCBI-GEO ]   KLHL1 [ EBI - ARRAY_EXPRESS ]   KLHL1 [ SEEK ]   KLHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57626
GTEX Portal (Tissue expression)KLHL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR64   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR64  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR64
Splice isoforms : SwissVarQ9NR64
PhosPhoSitePlusQ9NR64
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    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)KLHL1
DMDM Disease mutations57626
Blocks (Seattle)KLHL1
SuperfamilyQ9NR64
Human Protein AtlasENSG00000150361
Peptide AtlasQ9NR64
HPRD05623
IPIIPI00015995   IPI00921948   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR64
IntAct (EBI)Q9NR64
FunCoupENSG00000150361
BioGRIDKLHL1
STRING (EMBL)KLHL1
ZODIACKLHL1
Ontologies - Pathways
QuickGOQ9NR64
Ontology : AmiGOactin binding  ubiquitin-protein transferase activity  cytoplasm  cytoskeleton  adult walking behavior  dendrite development  protein ubiquitination  cerebellar Purkinje cell layer development  actin cytoskeleton organization  dendrite  Cul3-RING ubiquitin ligase complex  neuronal cell body  
Ontology : EGO-EBIactin binding  ubiquitin-protein transferase activity  cytoplasm  cytoskeleton  adult walking behavior  dendrite development  protein ubiquitination  cerebellar Purkinje cell layer development  actin cytoskeleton organization  dendrite  Cul3-RING ubiquitin ligase complex  neuronal cell body  
NDEx NetworkKLHL1
Atlas of Cancer Signalling NetworkKLHL1
Wikipedia pathwaysKLHL1
Orthology - Evolution
OrthoDB57626
GeneTree (enSembl)ENSG00000150361
Phylogenetic Trees/Animal Genes : TreeFamKLHL1
HOVERGENQ9NR64
HOGENOMQ9NR64
Homologs : HomoloGeneKLHL1
Homology/Alignments : Family Browser (UCSC)KLHL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL1
dbVarKLHL1
ClinVarKLHL1
1000_GenomesKLHL1 
Exome Variant ServerKLHL1
ExAC (Exome Aggregation Consortium)KLHL1 (select the gene name)
Genetic variants : HAPMAP57626
Genomic Variants (DGV)KLHL1 [DGVbeta]
DECIPHER (Syndromes)13:70274725-70682625  ENSG00000150361
CONAN: Copy Number AnalysisKLHL1 
Mutations
ICGC Data PortalKLHL1 
TCGA Data PortalKLHL1 
Broad Tumor PortalKLHL1
OASIS PortalKLHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL1
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 KLHL1
DgiDB (Drug Gene Interaction Database)KLHL1
DoCM (Curated mutations)KLHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL1 (select a term)
intoGenKLHL1
Cancer3DKLHL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605332   
Orphanet
MedgenKLHL1
Genetic Testing Registry KLHL1
NextProtQ9NR64 [Medical]
TSGene57626
GENETestsKLHL1
Huge Navigator KLHL1 [HugePedia]
snp3D : Map Gene to Disease57626
BioCentury BCIQKLHL1
ClinGenKLHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57626
Chemical/Pharm GKB GenePA30142
Clinical trialKLHL1
Miscellaneous
canSAR (ICR)KLHL1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL1
EVEXKLHL1
GoPubMedKLHL1
iHOPKLHL1
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 Mar 30 15:06:21 CEST 2017

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