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Aliases for CTSD Gene

Aliases for CTSD Gene

  • Cathepsin D 2 3
  • CPSD 3 4 6
  • EC 3.4.23.5 4 64
  • CLN10 3 6
  • Epididymis Secretory Sperm Binding Protein Li 130P 3
  • Cathepsin D (Lysosomal Aspartyl Protease) 2
  • Ceroid-Lipofuscinosis, Neuronal 10 3
  • Lysosomal Aspartyl Peptidase 3
  • Lysosomal Aspartyl Protease 3
  • Ceroid-Lipofuscinosis 2
  • Neuronal 10 2
  • HEL-S-130P 3
  • EC 3.4.23 64

External Ids for CTSD Gene

Previous Symbols for CTSD Gene

  • CPSD

Summaries for CTSD Gene

Entrez Gene Summary for CTSD Gene

  • This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for CTSD Gene

CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include ceroid lipofuscinosis, neuronal, 10 and microglandular adenosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Degradation of the extracellular matrix. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is BACE1.

UniProtKB/Swiss-Prot for CTSD Gene

  • Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease

Gene Wiki entry for CTSD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSD Gene

Genomics for CTSD Gene

Genomic Location for CTSD Gene

Start:
1,752,752 bp from pter
End:
1,763,992 bp from pter
Size:
11,241 bases
Orientation:
Minus strand

Genomic View for CTSD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSD Gene

Regulatory Elements for CTSD Gene

Proteins for CTSD Gene

  • Protein details for CTSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07339-CATD_HUMAN
    Recommended name:
    Cathepsin D
    Protein Accession:
    P07339
    Secondary Accessions:
    • Q6IB57

    Protein attributes for CTSD Gene

    Size:
    412 amino acids
    Molecular mass:
    44552 Da
    Quaternary structure:
    • Consists of a light chain and a heavy chain

    Three dimensional structures from OCA and Proteopedia for CTSD Gene

neXtProt entry for CTSD Gene

Proteomics data for CTSD Gene at MOPED

Post-translational modifications for CTSD Gene

Other Protein References for CTSD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CTSD Gene

Gene Families for CTSD Gene

HGNC:
  • CTS :Cathepsins

UniProtKB/Swiss-Prot:

CATD_HUMAN
Family:
  • Belongs to the peptidase A1 family.:
    • P07339
genes like me logo Genes that share domains with CTSD: view

Function for CTSD Gene

Molecular function for CTSD Gene

GENATLAS Biochemistry: cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase 3,ubiquitously expressed,involved in epidermal differentiation and major factor in the proteolysis of opsin,potentially recruited during apoptosis,bound to ceramide for proteolytic activity,at most a mild risk factor for sporadic Alzheimers disease,not decreased in age related maculopathy
UniProtKB/Swiss-Prot CatalyticActivity: Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln- -His-5 bond in B chain of insulin
UniProtKB/Swiss-Prot Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease

Enzyme Numbers (IUBMB) for CTSD Gene

Gene Ontology (GO) - Molecular Function for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 17112520
genes like me logo Genes that share ontologies with CTSD: view
genes like me logo Genes that share phenotypes with CTSD: view

Animal Models for CTSD Gene

MGI Knock Outs for CTSD:

No data available for Transcription Factor Targeting and HOMER Transcription for CTSD Gene

Localization for CTSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSD Gene

Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380). {ECO:0000269 PubMed:20551380}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTSD Gene COMPARTMENTS Subcellular localization image for CTSD gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 3
endosome 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS 22261194
GO:0005764 lysosome IDA 1837142
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with CTSD: view

Pathways for CTSD Gene

genes like me logo Genes that share pathways with CTSD: view

Gene Ontology (GO) - Biological Process for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008219 cell death --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with CTSD: view

Compounds for CTSD Gene

(109) Novoseek inferred chemical compound relationships for CTSD Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 85.5 36
estrogen 72.9 137
progesterone 70.7 126
statine 67.1 2
3-(2,4-dinitroanilino)-3-amino-n-methyldipropylamine 53.8 1
genes like me logo Genes that share compounds with CTSD: view

Transcripts for CTSD Gene

Unigene Clusters for CTSD Gene

Cathepsin D:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTSD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:

Relevant External Links for CTSD Gene

GeneLoc Exon Structure for
CTSD
ECgene alternative splicing isoforms for
CTSD

Expression for CTSD Gene

mRNA expression in normal human tissues for CTSD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTSD Gene

This gene is overexpressed in Whole Blood (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTSD Gene

SOURCE GeneReport for Unigene cluster for CTSD Gene Hs.654447

mRNA Expression by UniProt/SwissProt for CTSD Gene

P07339-CATD_HUMAN
Tissue specificity: Expressed in the aorta extrcellular space (at protein level).
genes like me logo Genes that share expressions with CTSD: view

Orthologs for CTSD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CATD 37
  • 83 (a)
OneToOne
CTSD 36
  • 85.74 (n)
  • 84.28 (a)
dog
(Canis familiaris)
Mammalia CTSD 36
  • 87.72 (n)
  • 88.54 (a)
CTSD 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctsd 36
  • 81.19 (n)
  • 84.28 (a)
Ctsd 16
Ctsd 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTSD 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctsd 36
  • 81.69 (n)
  • 84.72 (a)
chicken
(Gallus gallus)
Aves CTSD 36
  • 72.53 (n)
  • 71.2 (a)
CTSD 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSD 37
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398557 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735147 36
  • 71.18 (n)
  • 73.85 (a)
MGC76043 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11433 36
zebrafish
(Danio rerio)
Actinopterygii ctsd 36
  • 68 (n)
  • 69.07 (a)
ctsd 37
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003277 36
  • 62.39 (n)
  • 59.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta cathD 36
  • 61.9 (n)
  • 56.59 (a)
cathD 37
  • 55 (a)
ManyToMany
CG10104 37
  • 43 (a)
ManyToMany
CG17283 38
  • 39 (a)
CG5860 38
  • 36 (a)
CG17134 38
  • 44 (a)
CG6508 38
  • 44 (a)
cathD 38
  • 53 (a)
CG13095 38
  • 45 (a)
pcl 38
  • 39 (a)
CG10104 38
  • 44 (a)
CG5863 38
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea asp-4 36
  • 58.78 (n)
  • 60.18 (a)
asp-4 37
  • 48 (a)
OneToMany
asp-4 38
  • 58 (a)
C11D2.2 38
  • 33 (a)
Y39B6A.21 38
  • 32 (a)
asp-5 38
  • 33 (a)
F28A12.4 38
  • 30 (a)
F59D6.2 38
  • 29 (a)
asp-3 38
  • 44 (a)
F21F8.4 38
  • 31 (a)
F59D6.3 38
  • 28 (a)
asp-2 38
  • 31 (a)
asp-6 38
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 36
  • 51.19 (n)
  • 47.32 (a)
PEP4 37
  • 40 (a)
OneToMany
PEP4 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05929g 36
  • 49.8 (n)
  • 45 (a)
soybean
(Glycine max)
eudicotyledons Gma.286 36
thale cress
(Arabidopsis thaliana)
eudicotyledons APA1 36
  • 56.26 (n)
  • 53.15 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.535 36
corn
(Zea mays)
Liliopsida Zm.3415 36
rice
(Oryza sativa)
Liliopsida Os.8298 36
Os01g0663400 36
  • 57.59 (n)
  • 52.44 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02273 36
  • 55.99 (n)
  • 48.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1295 36
Species with no ortholog for CTSD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSD Gene

ENSEMBL:
Gene Tree for CTSD (if available)
TreeFam:
Gene Tree for CTSD (if available)

Paralogs for CTSD Gene

Paralogs for CTSD Gene

Selected SIMAP similar genes for CTSD Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CTSD: view

Variants for CTSD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CTSD Gene

P07339-CATD_HUMAN
The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD than non-carriers

Sequence variations from dbSNP and Humsavar for CTSD Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8839 -- 1,752,906(-) GAGCC(A/C/T)GTCCC utr-variant-3-prime
rs12214 -- 1,753,436(-) GGCCC(A/G)GCGGC utr-variant-3-prime
rs17571 Likely benign, - 1,761,364(-) CCAGG(C/T)GGTGC reference, missense
rs698450 -- 1,753,066(-) CCCCT(C/T)TGCCC utr-variant-3-prime
rs698451 -- 1,752,989(-) CGCTA(A/G)AGGCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CTSD Gene

Variant ID Type Subtype PubMed ID
nsv896727 CNV Gain 21882294
nsv896728 CNV Gain 21882294
nsv832049 CNV Loss 17160897
nsv896731 CNV Loss 21882294
nsv896732 CNV Loss 21882294
nsv467645 CNV Gain 19166990
nsv896733 CNV Loss 21882294
nsv7642 CNV Insertion 18451855
nsv896734 CNV Loss 21882294
nsv896735 CNV Loss 21882294
nsv896736 CNV Loss 21882294
esv1293972 CNV Insertion 17803354

Relevant External Links for CTSD Gene

HapMap Linkage Disequilibrium report
CTSD
Human Gene Mutation Database (HGMD)
CTSD

Disorders for CTSD Gene

(1) OMIM Diseases for CTSD Gene (116840)

UniProtKB/Swiss-Prot

CATD_HUMAN
  • Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. {ECO:0000269 PubMed:16670177, ECO:0000269 PubMed:16685649, ECO:0000269 PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CTSD Gene

(95) Novoseek inferred disease relationships for CTSD Gene

Disease -log(P) Hits PubMed IDs
breast cancer 79.1 248
breast carcinoma 73.2 66
metastasis 64 136
carcinoma ductal 62.2 15
tumors 61.5 212

Relevant External Links for CTSD

GeneTests
CTSD
GeneReviews
CTSD
Genetic Association Database (GAD)
CTSD
Human Genome Epidemiology (HuGE) Navigator
CTSD
Tumor Gene Database (TGDB):
CTSD
genes like me logo Genes that share disorders with CTSD: view

Publications for CTSD Gene

  1. Characterization of the proximal estrogen-responsive element of human cathepsin D gene. (PMID: 7935485) Augereau P. … Rochefort H. (Mol. Endocrinol. 1994) 3 4 23
  2. Two crystal structures for cathepsin D: the lysosomal targeting signal and active site. (PMID: 8467789) Metcalf P. … Fusek M. (EMBO J. 1993) 3 4 23
  3. A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease. (PMID: 10716266) Papassotiropoulos A. … Heun R. (Ann. Neurol. 2000) 3 4 23
  4. No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. (PMID: 11198280) Bertram L. … Tanzi R. (Ann. Neurol. 2001) 3 23 49
  5. Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. (PMID: 11304834) Menzer G. … Finckh U. (Am. J. Med. Genet. 2001) 3 23 49

Products for CTSD Gene

Sources for CTSD Gene

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