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CTSD cathepsin D [ Homo sapiens (human) ]

Gene ID: 1509, updated on 8-May-2016
Official Symbol
CTSDprovided by HGNC
Official Full Name
cathepsin Dprovided by HGNC
Primary source
HGNC:HGNC:2529
See related
Ensembl:ENSG00000117984 HPRD:00291; MIM:116840; Vega:OTTHUMG00000044760
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPSD; CLN10; HEL-S-130P
Summary
This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
Orthologs
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (1752752..1763992, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1773982..1785222, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene keratin associated protein 5-6 Neighboring gene interferon induced transmembrane protein 10 Neighboring gene uncharacterized LOC105376517 Neighboring gene ribosomal protein L36a pseudogene 39

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cathepsin D cleaves HIV-1 gp120 at positions L181-Y182 (V2 domain) and E274-V275 (C2 domain), which is important for antigen processing and presentation PubMed
env Cathepsin D may induce conformational modification of HIV-1 gp120, allowing direct interaction with the CXCR4 coreceptor and enhancing HIV-1 infectivity and entry into cells PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 Env co-localizes with cathepsin D in HIV-1 infected CD4+ T cells PubMed
env HIV-1 gp160 is identified to have a physical interaction with cathepsin D (CTSD) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Nef nef The transfection of activated CD4(+) T lymphocytes with a Nef expression vector rapidly induces the permeabilization of lysosomes and the release of Cat-D PubMed
Tat tat HIV-1 Tat co-localizes with cathepsin D in neuronal cells PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin D (CTSD) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Ceramide signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Ceramide signaling pathway, organism-specific biosystem
    Ceramide signaling pathway
  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • LKB1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    LKB1 signaling events, organism-specific biosystem
    LKB1 signaling events
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystem (from REACTOME)
    Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystemAngiotensinogen, a prohormone, is synthesized and secreted mainly by the liver but also from other tissues (reviewed in Fyhrquist and Saijonmaa 2008, Cat and Touyz 2011). Renin, an aspartyl protease ...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Prolactin Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Prolactin Signaling Pathway, organism-specific biosystemProlactin (PRL), a pleiotropic polypeptide hormone, mostly secreted by the lactotrophic cells of anterior pituitary gland and to a lesser extent expressed in numerous extra pituitary tissues such as ...
  • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
    Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
  • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
    Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • thyroid hormone biosynthesis, organism-specific biosystem (from BIOCYC)
    thyroid hormone biosynthesis, organism-specific biosystemGeneral Background The thyroid hormones : L-THYROXINE (T4) and : LIOTHYRONINE (T3) are essential for normal metabolism, growth and development. These : CPD-387-containing molecules are biosynthesiz...
  • thyroid hormone biosynthesis, conserved biosystem (from BIOCYC)
    thyroid hormone biosynthesis, conserved biosystemGeneral Background The thyroid hormones |FRAME: L-THYROXINE| (T4) and |FRAME: LIOTHYRONINE| (T3) are essential for normal vertebrate metabolism, growth and development. These |FRAME: CPD-387|-conta...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC2311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
autophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cathepsin D
Names
ceroid-lipofuscinosis, neuronal 10
epididymis secretory sperm binding protein Li 130P
lysosomal aspartyl peptidase
lysosomal aspartyl protease
NP_001900.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008655.1 RefSeqGene

    Range
    5001..16241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001909.4NP_001900.1  cathepsin D preproprotein

    See identical proteins and their annotated locations for NP_001900.1

    Status: REVIEWED

    Source sequence(s)
    BC016320, BM762986, BM976200
    Consensus CDS
    CCDS7725.1
    UniProtKB/Swiss-Prot
    P07339
    UniProtKB/TrEMBL
    V9HWI3
    Related
    ENSP00000236671, OTTHUMP00000042282, ENST00000236671, OTTHUMT00000104272
    Conserved Domains (3) summary
    pfam07966
    Location:2249
    A1_Propeptide; A1 Propeptide
    cd05490
    Location:73408
    Cathepsin_D2; Cathepsin_D2, pepsin family of proteinases
    pfam00026
    Location:78409
    Asp; Eukaryotic aspartyl protease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    1752752..1763992 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    1772933..1784154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)