CTSA cathepsin A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSAprovided by HGNC
Official Full Name: cathepsin Aprovided by HGNC
Primary source: HGNC:HGNC:9251
See related: Ensembl:ENSG00000064601 MIM:613111; AllianceGenome:HGNC:9251
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: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45891335..45898820)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47627833..47635315)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44519974..44527459)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomics analysis of serum and urine identifies VCP and CTSA as potential biomarkers associated with multiple myeloma.
Title: Proteomics analysis of serum and urine identifies VCP and CTSA as potential biomarkers associated with multiple myeloma.
Combining WGCNA and machine learning to construct basement membrane-related gene index helps to predict the prognosis and tumor microenvironment of HCC patients and verifies the carcinogenesis of key gene CTSA.
Title: Combining WGCNA and machine learning to construct basement membrane-related gene index helps to predict the prognosis and tumor microenvironment of HCC patients and verifies the carcinogenesis of key gene CTSA.
Identification of the prognostic, diagnostic, and biological significance of the miR-148a-3p/cathepsin A axis in hepatocellular carcinoma.
Title: Identification of the prognostic, diagnostic, and biological significance of the miR-148a-3p/cathepsin A axis in hepatocellular carcinoma.
Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.
Title: Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.
Cathepsin A knockdown decreases the proliferation and invasion of A549 lung adenocarcinoma cells.
Title: Cathepsin A knockdown decreases the proliferation and invasion of A549 lung adenocarcinoma cells.
Paired Carboxylic Acids in Enzymes and Their Role in Selective Substrate Binding, Catalysis, and Unusually Shifted pKa Values
Title: Paired Carboxylic Acids in Enzymes and Their Role in Selective Substrate Binding, Catalysis, and Unusually Shifted pK(a) Values.
Higher contents of cathepsin A, D, and E in the wall of the aortic aneurysms and a positive correlation between the concentration of cathepsin A and D and the width of the aneurysmal widening, suggests the participation of these enzymes in the pathogenesis of the aneurysm.
Title: The Relationship between the Concentration of Cathepsin A, D, and E and the Concentration of Copper and Zinc, and the Size of the Aneurysmal Enlargement in the Wall of the Abdominal Aortic Aneurysm.
CTSA expression in the left atrium in mitral regurgitation patients significantly differed from those in aortic valve disease patients and normal controls.
Title: Differential Gene Expression Profile of Renin-Angiotensin System in the Left Atrium in Mitral Regurgitation Patients.
The usefulness of modified U1 snRNA for rescue from exon 7 skipping caused by the IVS7 +3a>g mutation of the CTSA gene.
Title: Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene.
The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls.
Title: Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined deficiency of sialidase AND beta galactosidase MedGen: C0268233 OMIM: 256540 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

Cda16d10 (e-PCR)
- UniSTS:40733

RH93427 (e-PCR)
- UniSTS:87582

L18426 (e-PCR)
- UniSTS:34648

GDB:193197 (e-PCR)
- UniSTS:155747

D1S1423 (e-PCR)
- UniSTS:149619

RH66081 (e-PCR)
- UniSTS:79523

D20S1030 (e-PCR)
- UniSTS:13497

G64282 (e-PCR)
- UniSTS:158662

STS-M22960 (e-PCR)
- UniSTS:40154

D5S1597E (e-PCR)
- UniSTS:151019

D11S3316 (e-PCR)
- UniSTS:152558

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
enables serine-type carboxypeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular protein transport	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of chaperone-mediated autophagy	IGI Inferred from Genetic Interaction more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chaperone-mediated autophagy	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in 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
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosome	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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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

EC 3.4.16.5

NP_001121167.1

EC 3.4.16.5

NP_001161066.2

EC 3.4.16.5

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

NG_008291.1 RefSeqGene

Range

5384..12869

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000308.4 → NP_000299.3 lysosomal protective protein isoform b preproprotein

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

CCDS46609.1

UniProtKB/Swiss-Prot

B2R798, P10619, Q561W6, Q5JZH1, Q96KJ2, Q9BR08, Q9BW68

UniProtKB/TrEMBL

X6R8A1

Related

ENSP00000493613.2, ENST00000646241.3

Conserved Domains (1) summary

pfam00450
Location:39 → 476

Peptidase_S10; Serine carboxypeptidase
NM_001127695.3 → NP_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)

AL008726

Consensus CDS

CCDS46609.1

UniProtKB/Swiss-Prot

B2R798, P10619, Q561W6, Q5JZH1, Q96KJ2, Q9BR08, Q9BW68

UniProtKB/TrEMBL

X6R8A1

Related

ENSP00000191018.5, ENST00000191018.9

Conserved Domains (1) summary

pfam00450
Location:39 → 476

Peptidase_S10; Serine carboxypeptidase
NM_001167594.3 → NP_001161066.2 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)

AL008726

Consensus CDS

CCDS54467.1

UniProtKB/TrEMBL

X6R5C5

Related

ENSP00000346952.5, ENST00000354880.9

RNA

NR_133656.2 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)

AL008726

Related

ENST00000677525.1