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CTSA cathepsin A [ Homo sapiens (human) ]

Gene ID: 5476, updated on 9-Feb-2020

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

Genomic context

See CTSA in Genome Data Viewer
Location:
20q13.12
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45890144..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 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 PDX1 C-terminal inhibiting 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
carboxypeptidase activity TAS
Traceable Author Statement
more info
PubMed 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
serine-type carboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type carboxypeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
negative regulation of chaperone-mediated autophagy IGI
Inferred from Genetic Interaction
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of chaperone-mediated autophagy TAS
Traceable Author Statement
more info
PubMed 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
colocalizes_with lumenal side of lysosomal membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome NAS
Non-traceable Author Statement
more info
PubMed 
membrane HDA 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)

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
    ENSP00000493613.1, ENST00000646241.2
  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 109.20191205

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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