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CTSD (cathepsin D)

Identity

Other namesCLN10
CPSD
HEL-S-130P
HGNC (Hugo) CTSD
LocusID (NCBI) 1509
Atlas_Id 40203
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1773982 and ends at 1785222 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CTSD (11p15.5) / BPIFB1 (20q11.21)CTSD (11p15.5) / CHMP4B (20q11.22)CTSD (11p15.5) / CMPK1 (1p33)
CTSD (11p15.5) / HELZ2 (20q13.33)CTSD (11p15.5) / IFITM10 (11p15.5)CTSD (11p15.5) / KIF1A (2q37.3)
CTSD (11p15.5) / LOC402778 ()CTSD (11p15.5) / NCLN (19p13.3)CTSD (11p15.5) / PRKAR1B (7p22.3)
EPHA2 (1p36.13) / CTSD (11p15.5)FAM129B (9q33.3) / CTSD (11p15.5)GNB2 (7q22.1) / CTSD (11p15.5)
LTBP4 (19q13.2) / CTSD (11p15.5)PACSIN3 (11p11.2) / CTSD (11p15.5)PLXNA1 (3q21.3) / CTSD (11p15.5)
TMEM109 (11q12.2) / CTSD (11p15.5)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Head and Neck: Laryngeal tumors: an overview

External links

Nomenclature
HGNC (Hugo)CTSD   2529
Cards
Entrez_Gene (NCBI)CTSD  1509  cathepsin D
AliasesCLN10; CPSD; HEL-S-130P
GeneCards (Weizmann)CTSD
Ensembl hg19 (Hinxton)ENSG00000117984 [Gene_View]  chr11:1773982-1785222 [Contig_View]  CTSD [Vega]
Ensembl hg38 (Hinxton)ENSG00000117984 [Gene_View]  chr11:1773982-1785222 [Contig_View]  CTSD [Vega]
ICGC DataPortalENSG00000117984
TCGA cBioPortalCTSD
AceView (NCBI)CTSD
Genatlas (Paris)CTSD
WikiGenes1509
SOURCE (Princeton)CTSD
Genomic and cartography
GoldenPath hg19 (UCSC)CTSD  -     chr11:1773982-1785222 -  11p15.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CTSD  -     11p15.5   [Description]    (hg38-Dec_2013)
EnsemblCTSD - 11p15.5 [CytoView hg19]  CTSD - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBICTSD [Mapview hg19]  CTSD [Mapview hg38]
OMIM116840   610127   
Gene and transcription
Genbank (Entrez)AK130178 BC001574 BC016320 BM762986 BM976200
RefSeq transcript (Entrez)NM_001909
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008655 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)CTSD
Cluster EST : UnigeneHs.654447 [ NCBI ]
CGAP (NCI)Hs.654447
Alternative Splicing GalleryENSG00000117984
Gene ExpressionCTSD [ NCBI-GEO ]   CTSD [ EBI - ARRAY_EXPRESS ]   CTSD [ SEEK ]   CTSD [ MEM ]
Gene Expression Viewer (FireBrowse)CTSD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1509
GTEX Portal (Tissue expression)CTSD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07339 (Uniprot)
NextProtP07339  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07339
Splice isoforms : SwissVarP07339 (Swissvar)
Catalytic activity : Enzyme3.4.23.5 [ Enzyme-Expasy ]   3.4.23.53.4.23.5 [ IntEnz-EBI ]   3.4.23.5 [ BRENDA ]   3.4.23.5 [ KEGG ]   
PhosPhoSitePlusP07339
Domaine pattern : Prosite (Expaxy)ASP_PROTEASE (PS00141)    PEPTIDASE_A1 (PS51767)   
Domains : Interpro (EBI)Aspartic_peptidase_A1    Aspartic_peptidase_AS    Aspartic_peptidase_N    Peptidase_aspartic_dom   
Domain families : Pfam (Sanger)A1_Propeptide (PF07966)   
Domain families : Pfam (NCBI)pfam07966   
DMDM Disease mutations1509
Blocks (Seattle)CTSD
PDB (SRS)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB (PDBSum)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB (IMB)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB (RSDB)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
Structural Biology KnowledgeBase1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
SCOP (Structural Classification of Proteins)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
CATH (Classification of proteins structures)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
SuperfamilyP07339
Human Protein AtlasENSG00000117984
Peptide AtlasP07339
HPRD00291
IPIIPI00011229   IPI00658053   IPI00852597   IPI00879328   IPI00892793   
Protein Interaction databases
DIP (DOE-UCLA)P07339
IntAct (EBI)P07339
FunCoupENSG00000117984
BioGRIDCTSD
STRING (EMBL)CTSD
ZODIACCTSD
Ontologies - Pathways
QuickGOP07339
Ontology : AmiGOaspartic-type endopeptidase activity  cysteine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  lysosome  proteolysis  autophagy  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein catabolic process  collagen catabolic process  extracellular matrix  melanosome  lysosomal lumen  membrane raft  extracellular exosome  
Ontology : EGO-EBIaspartic-type endopeptidase activity  cysteine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  lysosome  proteolysis  autophagy  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein catabolic process  collagen catabolic process  extracellular matrix  melanosome  lysosomal lumen  membrane raft  extracellular exosome  
Pathways : BIOCARTADownregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
Pathways : KEGGLysosome    Tuberculosis   
NDEx NetworkCTSD
Atlas of Cancer Signalling NetworkCTSD
Wikipedia pathwaysCTSD
Orthology - Evolution
OrthoDB1509
GeneTree (enSembl)ENSG00000117984
Phylogenetic Trees/Animal Genes : TreeFamCTSD
Homologs : HomoloGeneCTSD
Homology/Alignments : Family Browser (UCSC)CTSD
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCTSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTSD
dbVarCTSD
ClinVarCTSD
1000_GenomesCTSD 
Exome Variant ServerCTSD
ExAC (Exome Aggregation Consortium)CTSD (select the gene name)
Genetic variants : HAPMAP1509
Genomic Variants (DGV)CTSD [DGVbeta]
Mutations
ICGC Data PortalCTSD 
TCGA Data PortalCTSD 
Broad Tumor PortalCTSD
OASIS PortalCTSD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTSD 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CTSD
DgiDB (Drug Gene Interaction Database)CTSD
DoCM (Curated mutations)CTSD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTSD (select a term)
intoGenCTSD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:1773982-1785222  ENSG00000117984
CONAN: Copy Number AnalysisCTSD 
Mutations and Diseases : HGMDCTSD
OMIM116840    610127   
MedgenCTSD
Genetic Testing Registry CTSD
NextProtP07339 [Medical]
TSGene1509
GENETestsCTSD
Huge Navigator CTSD [HugePedia]
snp3D : Map Gene to Disease1509
BioCentury BCIQCTSD
ClinGenCTSD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1509
Chemical/Pharm GKB GenePA27029
Clinical trialCTSD
Miscellaneous
canSAR (ICR)CTSD (select the gene name)
Probes
Litterature
PubMed261 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTSD
EVEXCTSD
GoPubMedCTSD
iHOPCTSD
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 : Mon Sep 19 18:44:40 CEST 2016

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