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CTSD (cathepsin D)

Identity

Alias (NCBI)CLN10
CPSD
HEL-S-130P
HGNC (Hugo) CTSD
HGNC Alias symbCLN10
HGNC Alias nameceroid-lipofuscinosis, neuronal 10
HGNC Previous nameCPSD
HGNC Previous namecathepsin D (lysosomal aspartyl protease)
LocusID (NCBI) 1509
Atlas_Id 40203
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 1752755 and ends at 1763927 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)CTSD   2529
Cards
Entrez_Gene (NCBI)CTSD    cathepsin D
AliasesCLN10; CPSD; HEL-S-130P
GeneCards (Weizmann)CTSD
Ensembl hg19 (Hinxton)ENSG00000117984 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117984 [Gene_View]  ENSG00000117984 [Sequence]  chr11:1752755-1763927 [Contig_View]  CTSD [Vega]
ICGC DataPortalENSG00000117984
TCGA cBioPortalCTSD
AceView (NCBI)CTSD
Genatlas (Paris)CTSD
SOURCE (Princeton)CTSD
Genetics Home Reference (NIH)CTSD
Genomic and cartography
GoldenPath hg38 (UCSC)CTSD  -     chr11:1752755-1763927 -  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CTSD  -     11p15.5   [Description]    (hg19-Feb_2009)
GoldenPathCTSD - 11p15.5 [CytoView hg19]  CTSD - 11p15.5 [CytoView hg38]
ImmunoBaseENSG00000117984
Genome Data Viewer NCBICTSD [Mapview hg19]  
OMIM116840   610127   
Gene and transcription
Genbank (Entrez)AK130178 BC001574 BC016320 BM762986 BM976200
RefSeq transcript (Entrez)NM_001909
Consensus coding sequences : CCDS (NCBI)CTSD
Gene ExpressionCTSD [ NCBI-GEO ]   CTSD [ EBI - ARRAY_EXPRESS ]   CTSD [ SEEK ]   CTSD [ MEM ]
Gene Expression Viewer (FireBrowse)CTSD [ Firebrowse - Broad ]
GenevisibleExpression of CTSD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1509
GTEX Portal (Tissue expression)CTSD
Human Protein AtlasENSG00000117984-CTSD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07339   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07339  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07339
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 ]   [ MEROPS ]
PhosPhoSitePlusP07339
Domaine pattern : Prosite (Expaxy)ASP_PROTEASE (PS00141)    PEPTIDASE_A1 (PS51767)   
Domains : Interpro (EBI)Aspartic_peptidase_A1    Aspartic_peptidase_AS    Aspartic_peptidase_N    Cathepsin_D    PEPTIDASE_A1    Peptidase_aspartic_dom_sf   
Domain families : Pfam (Sanger)A1_Propeptide (PF07966)    Asp (PF00026)   
Domain families : Pfam (NCBI)pfam07966    pfam00026   
Conserved Domain (NCBI)CTSD
PDB (RSDB)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB Europe1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB (PDBSum)1LYA    1LYB    1LYW    4OBZ    4OC6    4OD9   
PDB (IMB)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
AlphaFold pdb e-kbP07339   
Human Protein Atlas [tissue]ENSG00000117984-CTSD [tissue]
HPRD00291
Protein Interaction databases
DIP (DOE-UCLA)P07339
IntAct (EBI)P07339
BioGRIDCTSD
STRING (EMBL)CTSD
ZODIACCTSD
Ontologies - Pathways
QuickGOP07339
Ontology : AmiGOaspartic-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular region  extracellular space  extracellular space  lysosome  lysosome  lysosomal membrane  proteolysis  proteolysis  peptidase activity  peptidase activity  endosome membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  collagen catabolic process  specific granule lumen  lipoprotein catabolic process  melanosome  positive regulation of apoptotic process  lysosomal lumen  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  membrane raft  collagen-containing extracellular matrix  collagen-containing extracellular matrix  aspartic-type peptidase activity  extracellular exosome  regulation of establishment of protein localization  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIaspartic-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular region  extracellular space  extracellular space  lysosome  lysosome  lysosomal membrane  proteolysis  proteolysis  peptidase activity  peptidase activity  endosome membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  collagen catabolic process  specific granule lumen  lipoprotein catabolic process  melanosome  positive regulation of apoptotic process  lysosomal lumen  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  membrane raft  collagen-containing extracellular matrix  collagen-containing extracellular matrix  aspartic-type peptidase activity  extracellular exosome  regulation of establishment of protein localization  tertiary granule lumen  ficolin-1-rich granule lumen  
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
Fusion : MitelmanCTSD/PRKAR1B [11p15.5/7p22.3]  
Fusion : MitelmanEPHA2/CTSD [1p36.13/11p15.5]  
Fusion : MitelmanGNB2/CTSD [7q22.1/11p15.5]  
Fusion : MitelmanLTBP4/CTSD [19q13.2/11p15.5]  
Fusion : MitelmanPACSIN3/CTSD [11p11.2/11p15.5]  
Fusion : MitelmanPLXNA1/CTSD [3q21.3/11p15.5]  
Fusion : MitelmanTMEM109/CTSD [11q12.2/11p15.5]  
Fusion Cancer (Beijing)CTSD [11p15.5]  -  CHMP4B [20q11.22]  [FUSC002411]
Fusion Cancer (Beijing)CTSD [11p15.5]  -  KIF1A [2q37.3]  [FUSC002412]
Fusion Cancer (Beijing)CTSD [11p15.5]  -  PRIC285 [FUSC002728]
Fusion : QuiverCTSD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTSD
dbVarCTSD
ClinVarCTSD
MonarchCTSD
1000_GenomesCTSD 
Exome Variant ServerCTSD
GNOMAD BrowserENSG00000117984
Varsome BrowserCTSD
ACMGCTSD variants
VarityP07339
Genomic Variants (DGV)CTSD [DGVbeta]
DECIPHERCTSD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCTSD 
Mutations
ICGC Data PortalCTSD 
TCGA Data PortalCTSD 
Broad Tumor PortalCTSD
OASIS PortalCTSD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTSD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCTSD
Mutations and Diseases : HGMDCTSD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCTSD
DgiDB (Drug Gene Interaction Database)CTSD
DoCM (Curated mutations)CTSD
CIViC (Clinical Interpretations of Variants in Cancer)CTSD
Cancer3DCTSD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116840    610127   
Orphanet19106   
DisGeNETCTSD
MedgenCTSD
Genetic Testing Registry CTSD
NextProtP07339 [Medical]
GENETestsCTSD
Target ValidationCTSD
Huge Navigator CTSD [HugePedia]
ClinGenCTSD
Clinical trials, drugs, therapy
MyCancerGenomeCTSD
Protein Interactions : CTDCTSD
Pharm GKB GenePA27029
PharosP07339
Clinical trialCTSD
Miscellaneous
canSAR (ICR)CTSD
HarmonizomeCTSD
DataMed IndexCTSD
Probes
Litterature
PubMed351 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCTSD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:05:40 CEST 2021

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