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    CTSA cathepsin A [ Homo sapiens (human) ]

    Gene ID: 5476, updated on 8-Jul-2021

    Summary

    Official Symbol
    CTSAprovided by HGNC
    Official Full Name
    cathepsin Aprovided by HGNC
    Primary source
    HGNC:HGNC:9251
    See related
    Ensembl:ENSG00000064601 MIM:613111
    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
    GSL; GLB2; NGBE; PPCA; PPGB
    Summary
    This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in adrenal (RPKM 65.7), kidney (RPKM 65.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CTSA in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45890144..45898820)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44518783..44527459)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger SWIM-type containing 3 Neighboring gene zinc finger SWIM-type containing 1 Neighboring gene spermatogenesis associated 25 Neighboring gene neuralized E3 ubiquitin protein ligase 2 Neighboring gene phospholipid transfer protein Neighboring gene pre-mRNA-splicing factor cwc22-like Neighboring gene phosphorylated CTD interacting factor 1 Neighboring gene zinc finger protein 335

    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
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of cathepsin A (CTSA, lysosomal protective protein) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxypeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables serine-type carboxypeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables serine-type carboxypeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    lysosomal protective protein
    Names
    beta-galactosidase 2
    beta-galactosidase protective protein
    carboxypeptidase C
    carboxypeptidase Y-like kininase
    carboxypeptidase-L
    deamidase
    lysosomal carboxypeptidase A
    protective protein cathepsin A
    urinary kininase
    NP_000299.3
    NP_001121167.1
    NP_001161066.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008291.1 RefSeqGene

      Range
      4193..12869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000308.4NP_000299.3  lysosomal protective protein isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). This isoform (a) may undergo proteolytic processing similar to isoform (b).
      Source sequence(s)
      BC093009
      Consensus CDS
      CCDS13385.2
      Related
      ENSP00000493613.2, ENST00000646241.3
      Conserved Domains (1) summary
      pfam00450
      Location:39476
      Peptidase_S10; Serine carboxypeptidase
    2. NM_001127695.2NP_001121167.1  lysosomal protective protein isoform b preproprotein

      See identical proteins and their annotated locations for NP_001121167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK172808, AK307701, AL008726, BC093009, DA029446
      Consensus CDS
      CCDS46609.1
      UniProtKB/Swiss-Prot
      P10619
      Related
      ENSP00000191018.5, ENST00000191018.9
      Conserved Domains (1) summary
      pfam00450
      Location:39476
      Peptidase_S10; Serine carboxypeptidase
    3. NM_001167594.2NP_001161066.1  lysosomal protective protein isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a. This isoform may undergo proteolytic processing similar to isoform b.
      Source sequence(s)
      AK172808, AK304536, AL008726, BC000597, BC093009, DA029446
      Consensus CDS
      CCDS54467.1
      UniProtKB/Swiss-Prot
      P10619
      UniProtKB/TrEMBL
      B4E324, X6R5C5
      Related
      ENSP00000346952.4, ENST00000354880.9
      Conserved Domains (1) summary
      pfam00450
      Location:57477
      Peptidase_S10; Serine carboxypeptidase

    RNA

    1. NR_133656.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK172808, AL008726, BC093009, DA029446
      Related
      ENST00000606788.5

    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_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      45890144..45898820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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