Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL41 (kelch like family member 41)

Identity

Alias_namesKBTBD10
kelch repeat and BTB (POZ) domain containing 10
kelch-like 41 (Drosophila)
Alias_symbol (synonym)SARCOSIN
Krp1
Other alias
HGNC (Hugo) KLHL41
LocusID (NCBI) 10324
Atlas_Id 41046
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 170366212 and ends at 170382772 bp from pter ( according to hg19-Feb_2009)

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)KLHL41   16905
Cards
Entrez_Gene (NCBI)KLHL41  10324  kelch like family member 41
AliasesKBTBD10; Krp1; SARCOSIN
GeneCards (Weizmann)KLHL41
Ensembl hg19 (Hinxton)ENSG00000239474 [Gene_View]  chr2:170366212-170382772 [Contig_View]  KLHL41 [Vega]
Ensembl hg38 (Hinxton)ENSG00000239474 [Gene_View]  chr2:170366212-170382772 [Contig_View]  KLHL41 [Vega]
ICGC DataPortalENSG00000239474
TCGA cBioPortalKLHL41
AceView (NCBI)KLHL41
Genatlas (Paris)KLHL41
WikiGenes10324
SOURCE (Princeton)KLHL41
Genetics Home Reference (NIH)KLHL41
Genomic and cartography
GoldenPath hg19 (UCSC)KLHL41  -     chr2:170366212-170382772 +  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KLHL41  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblKLHL41 - 2q31.1 [CytoView hg19]  KLHL41 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIKLHL41 [Mapview hg19]  KLHL41 [Mapview hg38]
OMIM607701   615731   
Gene and transcription
Genbank (Entrez)AA194290 AF056929 AF333387 AK316571 AY364252
RefSeq transcript (Entrez)NM_006063
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_042051 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)KLHL41
Cluster EST : UnigeneHs.50550 [ NCBI ]
CGAP (NCI)Hs.50550
Alternative Splicing GalleryENSG00000239474
Gene ExpressionKLHL41 [ NCBI-GEO ]   KLHL41 [ EBI - ARRAY_EXPRESS ]   KLHL41 [ SEEK ]   KLHL41 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL41 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10324
GTEX Portal (Tissue expression)KLHL41
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60662   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60662  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60662
Splice isoforms : SwissVarO60662
PhosPhoSitePlusO60662
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Kelch-typ_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)KLHL41
DMDM Disease mutations10324
Blocks (Seattle)KLHL41
SuperfamilyO60662
Human Protein AtlasENSG00000239474
Peptide AtlasO60662
HPRD07610
IPIIPI00030986   IPI00220297   
Protein Interaction databases
DIP (DOE-UCLA)O60662
IntAct (EBI)O60662
FunCoupENSG00000239474
BioGRIDKLHL41
STRING (EMBL)KLHL41
ZODIACKLHL41
Ontologies - Pathways
QuickGOO60662
Ontology : AmiGOruffle  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum membrane  cytoskeleton  cytoskeleton  plasma membrane  striated muscle contraction  protein ubiquitination  myofibril assembly  pseudopodium  regulation of lateral pseudopodium assembly  M band  M band  Cul3-RING ubiquitin ligase complex  sarcoplasmic reticulum membrane  skeletal muscle cell differentiation  sarcomere organization  regulation of myoblast differentiation  regulation of myoblast differentiation  skeletal muscle fiber development  regulation of myoblast proliferation  regulation of myoblast proliferation  regulation of skeletal muscle cell differentiation  
Ontology : EGO-EBIruffle  ubiquitin-protein transferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum membrane  cytoskeleton  cytoskeleton  plasma membrane  striated muscle contraction  protein ubiquitination  myofibril assembly  pseudopodium  regulation of lateral pseudopodium assembly  M band  M band  Cul3-RING ubiquitin ligase complex  sarcoplasmic reticulum membrane  skeletal muscle cell differentiation  sarcomere organization  regulation of myoblast differentiation  regulation of myoblast differentiation  skeletal muscle fiber development  regulation of myoblast proliferation  regulation of myoblast proliferation  regulation of skeletal muscle cell differentiation  
NDEx NetworkKLHL41
Atlas of Cancer Signalling NetworkKLHL41
Wikipedia pathwaysKLHL41
Orthology - Evolution
OrthoDB10324
GeneTree (enSembl)ENSG00000239474
Phylogenetic Trees/Animal Genes : TreeFamKLHL41
HOVERGENO60662
HOGENOMO60662
Homologs : HomoloGeneKLHL41
Homology/Alignments : Family Browser (UCSC)KLHL41
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL41 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL41
dbVarKLHL41
ClinVarKLHL41
1000_GenomesKLHL41 
Exome Variant ServerKLHL41
ExAC (Exome Aggregation Consortium)KLHL41 (select the gene name)
Genetic variants : HAPMAP10324
Genomic Variants (DGV)KLHL41 [DGVbeta]
DECIPHER (Syndromes)2:170366212-170382772  ENSG00000239474
CONAN: Copy Number AnalysisKLHL41 
Mutations
ICGC Data PortalKLHL41 
TCGA Data PortalKLHL41 
Broad Tumor PortalKLHL41
OASIS PortalKLHL41 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKLHL41
BioMutasearch KLHL41
DgiDB (Drug Gene Interaction Database)KLHL41
DoCM (Curated mutations)KLHL41 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL41 (select a term)
intoGenKLHL41
Cancer3DKLHL41(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607701    615731   
Orphanet17906    17907    17908    17909   
MedgenKLHL41
Genetic Testing Registry KLHL41
NextProtO60662 [Medical]
TSGene10324
GENETestsKLHL41
Huge Navigator KLHL41 [HugePedia]
snp3D : Map Gene to Disease10324
BioCentury BCIQKLHL41
ClinGenKLHL41
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10324
Chemical/Pharm GKB GenePA134950205
Clinical trialKLHL41
Miscellaneous
canSAR (ICR)KLHL41 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL41
EVEXKLHL41
GoPubMedKLHL41
iHOPKLHL41
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 : Tue Mar 14 13:12:06 CET 2017

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