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    CTSD cathepsin D [ Homo sapiens (human) ]

    Gene ID: 1509, updated on 6-Sep-2021

    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
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    Genomic context

    See CTSD in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1752755..1763927, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1773985..1785157, 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
    enables aspartic-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables aspartic-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    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)

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    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; pepsin family of proteinases
      pfam07966
      Location:2249
      A1_Propeptide; A1 Propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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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