Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL40 (kelch like family member 40)

Identity

Alias_namesKBTBD5
kelch repeat and BTB (POZ) domain containing 5
kelch-like 40 (Drosophila)
Alias_symbol (synonym)SRYP
NEM8
Other aliasSYRP
HGNC (Hugo) KLHL40
LocusID (NCBI) 131377
Atlas_Id 53574
Location 3p22.1  [Link to chromosome band 3p22]
Location_base_pair Starts at 42685519 and ends at 42692446 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)KLHL40   30372
Cards
Entrez_Gene (NCBI)KLHL40  131377  kelch like family member 40
AliasesKBTBD5; NEM8; SRYP; SYRP
GeneCards (Weizmann)KLHL40
Ensembl hg19 (Hinxton)ENSG00000157119 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157119 [Gene_View]  chr3:42685519-42692446 [Contig_View]  KLHL40 [Vega]
ICGC DataPortalENSG00000157119
TCGA cBioPortalKLHL40
AceView (NCBI)KLHL40
Genatlas (Paris)KLHL40
WikiGenes131377
SOURCE (Princeton)KLHL40
Genetics Home Reference (NIH)KLHL40
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL40  -     chr3:42685519-42692446 +  3p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL40  -     3p22.1   [Description]    (hg19-Feb_2009)
EnsemblKLHL40 - 3p22.1 [CytoView hg19]  KLHL40 - 3p22.1 [CytoView hg38]
Mapping of homologs : NCBIKLHL40 [Mapview hg19]  KLHL40 [Mapview hg38]
OMIM615340   615348   
Gene and transcription
Genbank (Entrez)AI274020 AI659482 AK056577 AK291294 AK300682
RefSeq transcript (Entrez)NM_152393
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL40
Cluster EST : UnigeneHs.350288 [ NCBI ]
CGAP (NCI)Hs.350288
Alternative Splicing GalleryENSG00000157119
Gene ExpressionKLHL40 [ NCBI-GEO ]   KLHL40 [ EBI - ARRAY_EXPRESS ]   KLHL40 [ SEEK ]   KLHL40 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131377
GTEX Portal (Tissue expression)KLHL40
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2TBA0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2TBA0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2TBA0
Splice isoforms : SwissVarQ2TBA0
PhosPhoSitePlusQ2TBA0
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_b-propeller    Kelch_1    KLHL40    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)KLHL40
DMDM Disease mutations131377
Blocks (Seattle)KLHL40
PDB (SRS)4ASC   
PDB (PDBSum)4ASC   
PDB (IMB)4ASC   
PDB (RSDB)4ASC   
Structural Biology KnowledgeBase4ASC   
SCOP (Structural Classification of Proteins)4ASC   
CATH (Classification of proteins structures)4ASC   
SuperfamilyQ2TBA0
Human Protein AtlasENSG00000157119
Peptide AtlasQ2TBA0
HPRD11058
IPIIPI00383947   IPI00288927   IPI00979162   
Protein Interaction databases
DIP (DOE-UCLA)Q2TBA0
IntAct (EBI)Q2TBA0
FunCoupENSG00000157119
BioGRIDKLHL40
STRING (EMBL)KLHL40
ZODIACKLHL40
Ontologies - Pathways
QuickGOQ2TBA0
Ontology : AmiGOubiquitin-protein transferase activity  cytoplasm  protein ubiquitination  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  A band  I band  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  skeletal muscle fiber development  skeletal muscle fiber development  skeletal muscle fiber differentiation  
Ontology : EGO-EBIubiquitin-protein transferase activity  cytoplasm  protein ubiquitination  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  Cul3-RING ubiquitin ligase complex  Cul3-RING ubiquitin ligase complex  A band  I band  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  skeletal muscle fiber development  skeletal muscle fiber development  skeletal muscle fiber differentiation  
NDEx NetworkKLHL40
Atlas of Cancer Signalling NetworkKLHL40
Wikipedia pathwaysKLHL40
Orthology - Evolution
OrthoDB131377
GeneTree (enSembl)ENSG00000157119
Phylogenetic Trees/Animal Genes : TreeFamKLHL40
HOVERGENQ2TBA0
HOGENOMQ2TBA0
Homologs : HomoloGeneKLHL40
Homology/Alignments : Family Browser (UCSC)KLHL40
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL40
dbVarKLHL40
ClinVarKLHL40
1000_GenomesKLHL40 
Exome Variant ServerKLHL40
ExAC (Exome Aggregation Consortium)KLHL40 (select the gene name)
Genetic variants : HAPMAP131377
Genomic Variants (DGV)KLHL40 [DGVbeta]
DECIPHERKLHL40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL40 
Mutations
ICGC Data PortalKLHL40 
TCGA Data PortalKLHL40 
Broad Tumor PortalKLHL40
OASIS PortalKLHL40 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKLHL40
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
BioMutasearch KLHL40
DgiDB (Drug Gene Interaction Database)KLHL40
DoCM (Curated mutations)KLHL40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL40 (select a term)
intoGenKLHL40
Cancer3DKLHL40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615340    615348   
Orphanet17906   
MedgenKLHL40
Genetic Testing Registry KLHL40
NextProtQ2TBA0 [Medical]
TSGene131377
GENETestsKLHL40
Target ValidationKLHL40
Huge Navigator KLHL40 [HugePedia]
snp3D : Map Gene to Disease131377
BioCentury BCIQKLHL40
ClinGenKLHL40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD131377
Chemical/Pharm GKB GenePA134908127
Clinical trialKLHL40
Miscellaneous
canSAR (ICR)KLHL40 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL40
EVEXKLHL40
GoPubMedKLHL40
iHOPKLHL40
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 : Wed Jun 7 12:39:48 CEST 2017

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