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KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)

Identity

Alias_symbol (synonym)Sam68
p62
FLJ34027
Other aliasp68
HGNC (Hugo) KHDRBS1
LocusID (NCBI) 10657
Atlas_Id 41056
Location 1p35.2  [Link to chromosome band 1p35]
Location_base_pair Starts at 32013694 and ends at 32043881 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KHDRBS1 (1p35.1) / KHDRBS1 (1p35.1)KHDRBS1 (1p35.1) / PTH (11p15.2)KPNA6 (1p35.1) / KHDRBS1 (1p35.1)
PLCH2 (1p36.32) / KHDRBS1 (1p35.1)WASF2 (1p36.11) / KHDRBS1 (1p35.1)

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)KHDRBS1   18116
Cards
Entrez_Gene (NCBI)KHDRBS1  10657  KH RNA binding domain containing, signal transduction associated 1
AliasesSam68; p62; p68
GeneCards (Weizmann)KHDRBS1
Ensembl hg19 (Hinxton)ENSG00000121774 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121774 [Gene_View]  chr1:32013694-32043881 [Contig_View]  KHDRBS1 [Vega]
ICGC DataPortalENSG00000121774
TCGA cBioPortalKHDRBS1
AceView (NCBI)KHDRBS1
Genatlas (Paris)KHDRBS1
WikiGenes10657
SOURCE (Princeton)KHDRBS1
Genetics Home Reference (NIH)KHDRBS1
Genomic and cartography
GoldenPath hg38 (UCSC)KHDRBS1  -     chr1:32013694-32043881 +  1p35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDRBS1  -     1p35.2   [Description]    (hg19-Feb_2009)
EnsemblKHDRBS1 - 1p35.2 [CytoView hg19]  KHDRBS1 - 1p35.2 [CytoView hg38]
Mapping of homologs : NCBIKHDRBS1 [Mapview hg19]  KHDRBS1 [Mapview hg38]
OMIM602489   
Gene and transcription
Genbank (Entrez)AK091346 AK293369 AK303218 AK312916 BC000717
RefSeq transcript (Entrez)NM_001271878 NM_006559
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDRBS1
Cluster EST : UnigeneHs.445893 [ NCBI ]
CGAP (NCI)Hs.445893
Alternative Splicing GalleryENSG00000121774
Gene ExpressionKHDRBS1 [ NCBI-GEO ]   KHDRBS1 [ EBI - ARRAY_EXPRESS ]   KHDRBS1 [ SEEK ]   KHDRBS1 [ MEM ]
Gene Expression Viewer (FireBrowse)KHDRBS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10657
GTEX Portal (Tissue expression)KHDRBS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07666   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07666  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07666
Splice isoforms : SwissVarQ07666
PhosPhoSitePlusQ07666
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)KH_dom    KH_dom_type_1    Qua1_dom    Sam68-YY   
Domain families : Pfam (Sanger)KH_1 (PF00013)    Qua1 (PF16274)    Sam68-YY (PF16568)   
Domain families : Pfam (NCBI)pfam00013    pfam16274    pfam16568   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)KHDRBS1
DMDM Disease mutations10657
Blocks (Seattle)KHDRBS1
PDB (SRS)2XA6    3QHE   
PDB (PDBSum)2XA6    3QHE   
PDB (IMB)2XA6    3QHE   
PDB (RSDB)2XA6    3QHE   
Structural Biology KnowledgeBase2XA6    3QHE   
SCOP (Structural Classification of Proteins)2XA6    3QHE   
CATH (Classification of proteins structures)2XA6    3QHE   
SuperfamilyQ07666
Human Protein AtlasENSG00000121774
Peptide AtlasQ07666
HPRD03926
IPIIPI00008575   IPI00385834   IPI00082310   IPI00479209   
Protein Interaction databases
DIP (DOE-UCLA)Q07666
IntAct (EBI)Q07666
FunCoupENSG00000121774
BioGRIDKHDRBS1
STRING (EMBL)KHDRBS1
ZODIACKHDRBS1
Ontologies - Pathways
QuickGOQ07666
Ontology : AmiGOG2/M transition of mitotic cell cycle  DNA binding  RNA binding  SH3/SH2 adaptor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  transcription, DNA-templated  mRNA processing  cell cycle arrest  signal transduction  cell surface receptor signaling pathway  poly(A) binding  poly(U) RNA binding  cell proliferation  positive regulation of signal transduction  membrane  SH3 domain binding  regulation of protein stability  protein complex binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of translational initiation  regulation of RNA export from nucleus  positive regulation of RNA export from nucleus  regulation of mRNA splicing, via spliceosome  Grb2-Sos complex  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  DNA binding  RNA binding  SH3/SH2 adaptor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  transcription, DNA-templated  mRNA processing  cell cycle arrest  signal transduction  cell surface receptor signaling pathway  poly(A) binding  poly(U) RNA binding  cell proliferation  positive regulation of signal transduction  membrane  SH3 domain binding  regulation of protein stability  protein complex binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of translational initiation  regulation of RNA export from nucleus  positive regulation of RNA export from nucleus  regulation of mRNA splicing, via spliceosome  Grb2-Sos complex  
Pathways : BIOCARTARegulation of Splicing through Sam68 [Genes]   
NDEx NetworkKHDRBS1
Atlas of Cancer Signalling NetworkKHDRBS1
Wikipedia pathwaysKHDRBS1
Orthology - Evolution
OrthoDB10657
GeneTree (enSembl)ENSG00000121774
Phylogenetic Trees/Animal Genes : TreeFamKHDRBS1
HOVERGENQ07666
HOGENOMQ07666
Homologs : HomoloGeneKHDRBS1
Homology/Alignments : Family Browser (UCSC)KHDRBS1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)KHDRBS1 [1p35.1]  -  PTH [11p15.2]  [FUSC004152]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDRBS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDRBS1
dbVarKHDRBS1
ClinVarKHDRBS1
1000_GenomesKHDRBS1 
Exome Variant ServerKHDRBS1
ExAC (Exome Aggregation Consortium)KHDRBS1 (select the gene name)
Genetic variants : HAPMAP10657
Genomic Variants (DGV)KHDRBS1 [DGVbeta]
DECIPHERKHDRBS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDRBS1 
Mutations
ICGC Data PortalKHDRBS1 
TCGA Data PortalKHDRBS1 
Broad Tumor PortalKHDRBS1
OASIS PortalKHDRBS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDRBS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHDRBS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KHDRBS1
DgiDB (Drug Gene Interaction Database)KHDRBS1
DoCM (Curated mutations)KHDRBS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDRBS1 (select a term)
intoGenKHDRBS1
Cancer3DKHDRBS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602489   
Orphanet
MedgenKHDRBS1
Genetic Testing Registry KHDRBS1
NextProtQ07666 [Medical]
TSGene10657
GENETestsKHDRBS1
Target ValidationKHDRBS1
Huge Navigator KHDRBS1 [HugePedia]
snp3D : Map Gene to Disease10657
BioCentury BCIQKHDRBS1
ClinGenKHDRBS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10657
Chemical/Pharm GKB GenePA30092
Clinical trialKHDRBS1
Miscellaneous
canSAR (ICR)KHDRBS1 (select the gene name)
Probes
Litterature
PubMed189 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDRBS1
EVEXKHDRBS1
GoPubMedKHDRBS1
iHOPKHDRBS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:04:37 CEST 2017

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