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CTSD cathepsin D [ Homo sapiens (human) ]

Gene ID: 1509, updated on 12-Jul-2020

Summary

Official Symbol
CTSDprovided by HGNC
Official Full Name
cathepsin Dprovided by HGNC
Primary source
HGNC:HGNC:2529
See related
Ensembl:ENSG00000117984 MIM:116840
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]
Expression
Ubiquitous expression in lung (RPKM 302.1), kidney (RPKM 273.0) and 25 other tissues See more
Orthologs

Genomic context

See CTSD in Genome Data Viewer
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1752755..1763927, 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 skeletal muscle cis-regulatory module in IFITM10 intron Neighboring gene uncharacterized LOC105376517 Neighboring gene ribosomal protein L36a pseudogene 39

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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 increases cellular levels of CTSD (Cathepsin D), which can be inhibited by caffeine PubMed
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5066..16238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001909.5NP_001900.1  cathepsin D preproprotein

    See identical proteins and their annotated locations for NP_001900.1

    Status: REVIEWED

    Source sequence(s)
    BC016320, BM762986
    Consensus CDS
    CCDS7725.1
    UniProtKB/Swiss-Prot
    P07339
    UniProtKB/TrEMBL
    V9HWI3
    Related
    ENSP00000236671.2, ENST00000236671.7
    Conserved Domains (2) summary
    cd05490
    Location:73408
    Cathepsin_D2; Cathepsin_D2, pepsin family of proteinases
    pfam07966
    Location:2249
    A1_Propeptide; A1 Propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    1752755..1763927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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