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CTSA cathepsin A [ Homo sapiens (human) ]

Gene ID: 5476, updated on 12-May-2015
Official Symbol
CTSAprovided by HGNC
Official Full Name
cathepsin Aprovided by HGNC
Primary source
HGNC:HGNC:9251
See related
Ensembl:ENSG00000064601; HPRD:02020; MIM:613111; Vega:OTTHUMG00000033078
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 glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See CTSA in MapViewer
Location:
20q13.1
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (45890952..45898820)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44519591..44527459)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes 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 PDX1 C-terminal inhibiting factor 1 Neighboring gene zinc finger protein 335

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • 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...
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystem (from REACTOME)
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, organism-specific biosystemN-linked glycosylation commences with the 14-step synthesis of a dolichol lipid-linked oligosaccharide (LLO) consisting of 14 sugars (2 core GlcNAcs, 9 mannoses and 3 terminal GlcNAcs). This pathway ...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • 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...
  • 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, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • 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.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Renin-angiotensin system, organism-specific biosystem (from KEGG)
    Renin-angiotensin system, organism-specific biosystem
    Renin-angiotensin system
  • Renin-angiotensin system, conserved biosystem (from KEGG)
    Renin-angiotensin system, conserved biosystem
    Renin-angiotensin system
  • Sialic acid metabolism, organism-specific biosystem (from REACTOME)
    Sialic acid metabolism, organism-specific biosystemSialic acids are a family of 9 carbon alpha-keto acids that are usually present in the non reducing terminal of glycoconjuates on the cell surface of eukaryotic cells. These sialylated conjugates pla...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • Synthesis of substrates in N-glycan biosythesis, organism-specific biosystem (from REACTOME)
    Synthesis of substrates in N-glycan biosythesis, organism-specific biosystemReactions for the synthesis of the small nucleotide-linked sugar substrates that are used in the synthesis of the N-glycan precursor and in the later steps of glycosylation are annotated here.All the...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxypeptidase activity TAS
Traceable Author Statement
more info
PubMed 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
serine-type carboxypeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
positive regulation of catalytic activity TAS
Traceable Author Statement
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein N-linked glycosylation via asparagine TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
lysosomal protective protein
Names
lysosomal protective protein
beta-galactosidase 2
beta-galactosidase protective protein
carboxypeptidase C
carboxypeptidase L
carboxypeptidase Y-like kininase
carboxypeptidase-L
deamidase
lysosomal carboxypeptidase A
protective protein cathepsin A
urinary kininase
NP_000299.2
NP_001121167.1
NP_001161066.1

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_008291.1 RefSeqGene

    Range
    5001..12869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000308.2NP_000299.2  lysosomal protective protein isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    BC093009, DA029446
    Consensus CDS
    CCDS13385.2
    UniProtKB/Swiss-Prot
    P10619
    UniProtKB/TrEMBL
    X6R8A1
    Related
    ENSP00000361562, OTTHUMP00000031778, ENST00000372484, OTTHUMT00000080497
    Conserved Domains (1) summary
    pfam00450
    Location:57494
    Peptidase_S10; Serine carboxypeptidase
  2. NM_001127695.1NP_001121167.1  lysosomal protective protein isoform b precursor

    See identical proteins and their annotated locations for NP_001121167.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' region, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (b) has a shorter N-terminus, as compared to isoform a.
    Source sequence(s)
    AK307701, BC093009, DA029446
    Consensus CDS
    CCDS46609.1
    UniProtKB/Swiss-Prot
    P10619
    Related
    ENSP00000191018, OTTHUMP00000031780, ENST00000191018, OTTHUMT00000080500
    Conserved Domains (1) summary
    pfam00450
    Location:39476
    Peptidase_S10; Serine carboxypeptidase
  3. NM_001167594.1NP_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 resulting protein is shorter than isoform a.
    Source sequence(s)
    AK172808, AK304536, BC000597, DA029446
    Consensus CDS
    CCDS54467.1
    UniProtKB/TrEMBL
    B4E324
    UniProtKB/Swiss-Prot
    P10619
    UniProtKB/TrEMBL
    X6R5C5
    Related
    ENSP00000346952, OTTHUMP00000031782, ENST00000354880, OTTHUMT00000080502
    Conserved Domains (1) summary
    pfam00450
    Location:57477
    Peptidase_S10; Serine carboxypeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    45890952..45898820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    44422715..44430579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)