Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HCLS1 (hematopoietic cell-specific Lyn substrate 1)

Identity

Alias_symbol (synonym)HS1
CTTNL
Other aliaslckBP1
p75
HGNC (Hugo) HCLS1
LocusID (NCBI) 3059
Atlas_Id 46153
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 121350245 and ends at 121379795 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HCLS1 (3q13.33) / CDK14 (7q21.13)HCLS1 (3q13.33) / NLRC5 (16q13)

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)HCLS1   4844
Cards
Entrez_Gene (NCBI)HCLS1  3059  hematopoietic cell-specific Lyn substrate 1
AliasesCTTNL; HS1; lckBP1; p75
GeneCards (Weizmann)HCLS1
Ensembl hg19 (Hinxton)ENSG00000180353 [Gene_View]  chr3:121350245-121379795 [Contig_View]  HCLS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000180353 [Gene_View]  chr3:121350245-121379795 [Contig_View]  HCLS1 [Vega]
ICGC DataPortalENSG00000180353
TCGA cBioPortalHCLS1
AceView (NCBI)HCLS1
Genatlas (Paris)HCLS1
WikiGenes3059
SOURCE (Princeton)HCLS1
Genetics Home Reference (NIH)HCLS1
Genomic and cartography
GoldenPath hg19 (UCSC)HCLS1  -     chr3:121350245-121379795 -  3q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HCLS1  -     3q13.33   [Description]    (hg38-Dec_2013)
EnsemblHCLS1 - 3q13.33 [CytoView hg19]  HCLS1 - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBIHCLS1 [Mapview hg19]  HCLS1 [Mapview hg38]
OMIM601306   
Gene and transcription
Genbank (Entrez)AI091876 AK124015 AK225633 AK298663 AK298696
RefSeq transcript (Entrez)NM_001292041 NM_005335
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)HCLS1
Cluster EST : UnigeneHs.14601 [ NCBI ]
CGAP (NCI)Hs.14601
Alternative Splicing GalleryENSG00000180353
Gene ExpressionHCLS1 [ NCBI-GEO ]   HCLS1 [ EBI - ARRAY_EXPRESS ]   HCLS1 [ SEEK ]   HCLS1 [ MEM ]
Gene Expression Viewer (FireBrowse)HCLS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3059
GTEX Portal (Tissue expression)HCLS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14317   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14317  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14317
Splice isoforms : SwissVarP14317
PhosPhoSitePlusP14317
Domaine pattern : Prosite (Expaxy)CORTACTIN (PS51090)    SH3 (PS50002)   
Domains : Interpro (EBI)HS1    Hs1_Cortactin    SH3_domain   
Domain families : Pfam (Sanger)HS1_rep (PF02218)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam02218    pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)HCLS1
DMDM Disease mutations3059
Blocks (Seattle)HCLS1
SuperfamilyP14317
Human Protein AtlasENSG00000180353
Peptide AtlasP14317
HPRD03199
IPIIPI00026156   IPI00908571   IPI00909846   IPI00945402   IPI00947487   
Protein Interaction databases
DIP (DOE-UCLA)P14317
IntAct (EBI)P14317
FunCoupENSG00000180353
BioGRIDHCLS1
STRING (EMBL)HCLS1
ZODIACHCLS1
Ontologies - Pathways
QuickGOP14317
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor binding  actin binding  protein binding  nucleus  nucleus  transcription factor complex  cytoplasm  cytoplasm  mitochondrion  regulation of transcription, DNA-templated  positive regulation of cell proliferation  response to hormone  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  SH3 domain binding  protein kinase binding  actin filament polymerization  erythrocyte differentiation  regulation of actin filament polymerization  positive regulation of granulocyte differentiation  protein complex binding  positive regulation of peptidyl-serine phosphorylation  intracellular signal transduction  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of transcription factor import into nucleus  positive regulation of macrophage differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of protein kinase B signaling  cellular response to cytokine stimulus  negative regulation of leukocyte apoptotic process  positive regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor binding  actin binding  protein binding  nucleus  nucleus  transcription factor complex  cytoplasm  cytoplasm  mitochondrion  regulation of transcription, DNA-templated  positive regulation of cell proliferation  response to hormone  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  SH3 domain binding  protein kinase binding  actin filament polymerization  erythrocyte differentiation  regulation of actin filament polymerization  positive regulation of granulocyte differentiation  protein complex binding  positive regulation of peptidyl-serine phosphorylation  intracellular signal transduction  positive regulation of tyrosine phosphorylation of STAT protein  positive regulation of transcription factor import into nucleus  positive regulation of macrophage differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of protein kinase B signaling  cellular response to cytokine stimulus  negative regulation of leukocyte apoptotic process  positive regulation of actin cytoskeleton reorganization  
Pathways : KEGGTight junction    Bacterial invasion of epithelial cells    Pathogenic Escherichia coli infection    Shigellosis    Proteoglycans in cancer   
NDEx NetworkHCLS1
Atlas of Cancer Signalling NetworkHCLS1
Wikipedia pathwaysHCLS1
Orthology - Evolution
OrthoDB3059
GeneTree (enSembl)ENSG00000180353
Phylogenetic Trees/Animal Genes : TreeFamHCLS1
HOVERGENP14317
HOGENOMP14317
Homologs : HomoloGeneHCLS1
Homology/Alignments : Family Browser (UCSC)HCLS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHCLS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HCLS1
dbVarHCLS1
ClinVarHCLS1
1000_GenomesHCLS1 
Exome Variant ServerHCLS1
ExAC (Exome Aggregation Consortium)HCLS1 (select the gene name)
Genetic variants : HAPMAP3059
Genomic Variants (DGV)HCLS1 [DGVbeta]
DECIPHER (Syndromes)3:121350245-121379795  ENSG00000180353
CONAN: Copy Number AnalysisHCLS1 
Mutations
ICGC Data PortalHCLS1 
TCGA Data PortalHCLS1 
Broad Tumor PortalHCLS1
OASIS PortalHCLS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHCLS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHCLS1
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 HCLS1
DgiDB (Drug Gene Interaction Database)HCLS1
DoCM (Curated mutations)HCLS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HCLS1 (select a term)
intoGenHCLS1
Cancer3DHCLS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601306   
Orphanet
MedgenHCLS1
Genetic Testing Registry HCLS1
NextProtP14317 [Medical]
TSGene3059
GENETestsHCLS1
Huge Navigator HCLS1 [HugePedia]
snp3D : Map Gene to Disease3059
BioCentury BCIQHCLS1
ClinGenHCLS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3059
Chemical/Pharm GKB GenePA29220
Clinical trialHCLS1
Miscellaneous
canSAR (ICR)HCLS1 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHCLS1
EVEXHCLS1
GoPubMedHCLS1
iHOPHCLS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:08:41 CET 2017

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