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 a... See more...

Aliases for CTSA Gene

Aliases for CTSA Gene

  • Cathepsin A 2 3 4 5
  • Lysosomal Protective Protein 2 3 4
  • Carboxypeptidase C 2 3 4
  • Carboxypeptidase Y-Like Kininase 2 3
  • Protective Protein Cathepsin A 3 4
  • Lysosomal Carboxypeptidase A 2 3
  • Carboxypeptidase-L 2 3
  • Urinary Kininase 2 3
  • EC 3.4.16.5 4 50
  • Deamidase 2 3
  • PPCA 3 4
  • PPGB 3 4
  • Protective Protein For Beta-Galactosidase (Galactosialidosis) 2
  • Protective Protein For Beta-Galactosidase 4
  • Beta-Galactosidase Protective Protein 3
  • Beta-Galactosidase 2 3
  • Carboxypeptidase L 4
  • EC 3.4.16 50
  • GLB2 3
  • NGBE 3
  • CTSA 5
  • GSL 3

External Ids for CTSA Gene

Previous HGNC Symbols for CTSA Gene

  • GSL
  • PPGB

Previous GeneCards Identifiers for CTSA Gene

  • GC20P043953
  • GC20P044519
  • GC20P041261

Summaries for CTSA Gene

Entrez Gene Summary for CTSA Gene

  • 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]

GeneCards Summary for CTSA Gene

CTSA (Cathepsin A) is a Protein Coding gene. Diseases associated with CTSA include Galactosialidosis and Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy. Among its related pathways are Sphingolipid metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include enzyme activator activity and serine-type carboxypeptidase activity. An important paralog of this gene is CPVL.

UniProtKB/Swiss-Prot Summary for CTSA Gene

  • Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.

Tocris Summary for CTSA Gene

  • Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z).

Gene Wiki entry for CTSA Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSA Gene

Genomics for CTSA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTSA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J045889 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.8 1787 4.7 SP1 NCOR1 ZNF207 MYC ZNF600 SSRP1 ZNF592 KLF9 POLR2A CEBPA ENSG00000271984 NEURL2 CTSA HSALNG0130436 NONHSAG031877.2 SPATA25 NCOA5 TP53RK CD40 ZNF335
GH20J045888 Enhancer 0.3 Ensembl 250.7 -1.1 -1143 0.4 SSRP1 RBFOX2 CTSA HSALNG0130435 HSALNG0130436 SPATA25 NEURL2 ZSWIM1
GH20J045933 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +46.1 46104 6.5 SP1 ZNF207 MYC ZNF600 NCOR1 IKZF1 SIX5 SSRP1 ZMYM3 ATF2 PCIF1 ENSG00000285796 HSALNG0130447 LOC107985388 SNX21 SLC35C2 PLTP NCOA5 ZSWIM3 TP53RK
GH20J045822 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -63.8 -63766 6.4 ZNF654 POLR2A ZIC2 REST BHLHE40 CTCF SIN3A SAP130 RAD21 SMC3 TNNC2 WFDC3 PLTP ACOT8 ZSWIM3 ZSWIM1 DNTTIP1 NEURL2 SPATA25 CTSA
GH20J045917 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 +30.1 30057 6 NCOR1 ZMYM3 CEBPA NFIC ZIC2 CHD4 MXD4 HOMEZ ARNT FOXA2 HSALNG0130443 WFDC3 SPATA25 NEURL2 CTSA PLTP ZSWIM3 ACOT8 SNX21 TNNC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTSA

Top Transcription factor binding sites by QIAGEN in the CTSA gene promoter:
  • E47
  • GATA-2
  • Nkx2-5
  • Pax-5
  • PPAR-alpha
  • Tal-1beta
  • TBP
  • YY1

Genomic Locations for CTSA Gene

Latest Assembly
chr20:45,890,144-45,898,824
(GRCh38/hg38)
Size:
8,681 bases
Orientation:
Plus strand

Previous Assembly
chr20:44,518,783-44,527,459
(GRCh37/hg19 by Entrez Gene)
Size:
8,677 bases
Orientation:
Plus strand

chr20:44,518,783-44,527,459
(GRCh37/hg19 by Ensembl)
Size:
8,677 bases
Orientation:
Plus strand

Genomic View for CTSA Gene

Genes around CTSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSA Gene

Proteins for CTSA Gene

  • Protein details for CTSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10619-PPGB_HUMAN
    Recommended name:
    Lysosomal protective protein
    Protein Accession:
    P10619
    Secondary Accessions:
    • B2R798
    • Q561W6
    • Q5JZH1
    • Q96KJ2
    • Q9BR08
    • Q9BW68

    Protein attributes for CTSA Gene

    Size:
    480 amino acids
    Molecular mass:
    54466 Da
    Quaternary structure:
    • Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for CTSA Gene

    Alternative splice isoforms for CTSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTSA Gene

Selected DME Specific Peptides for CTSA Gene

P10619:
  • ESPAGVG
  • HYWFVESQ
  • GGPGCSS
  • TGESYAG
  • YIPTLAV

Post-translational modifications for CTSA Gene

  • Glycosylation at Asn145 and Asn333
  • Ubiquitination at Lys429
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for CTSA Gene

Gene Families for CTSA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CTSA Gene

InterPro:
Blocks:
  • Serine carboxypeptidase (S10)

Suggested Antigen Peptide Sequences for CTSA Gene

GenScript: Design optimal peptide antigens:
  • Protective protein for beta-galactosidase (PPGB_HUMAN)
  • Protective protein for beta-galactosidase (Galactosialidosis), isoform CRA_b (Q59EV6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10619

UniProtKB/Swiss-Prot:

PPGB_HUMAN :
  • Belongs to the peptidase S10 family.
Family:
  • Belongs to the peptidase S10 family.
genes like me logo Genes that share domains with CTSA: view

Function for CTSA Gene

Molecular function for CTSA Gene

UniProtKB/Swiss-Prot Function:
Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of a C-terminal amino acid with broad specificity.; EC=3.4.16.5; Evidence={ECO:0000255|PROSITE-ProRule:PRU10074, ECO:0000255|PROSITE-ProRule:PRU10075};.

Enzyme Numbers (IUBMB) for CTSA Gene

Phenotypes From GWAS Catalog for CTSA Gene

Gene Ontology (GO) - Molecular Function for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity TAS 2244901
GO:0004185 serine-type carboxypeptidase activity IEA,IMP 12505983
GO:0008047 enzyme activator activity TAS 3107551
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTSA: view
genes like me logo Genes that share phenotypes with CTSA: view

Human Phenotype Ontology for CTSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSA Gene

MGI Knock Outs for CTSA:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSA

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for CTSA Gene

Localization for CTSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSA gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endosome 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome NAS 3136930
GO:0005765 lysosomal membrane IEA --
GO:0005783 endoplasmic reticulum TAS 1387645
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with CTSA: view

Pathways & Interactions for CTSA Gene

genes like me logo Genes that share pathways with CTSA: view

Gene Ontology (GO) - Biological Process for CTSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 12505983
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006886 intracellular protein transport TAS 1387645
GO:0031647 regulation of protein stability IMP 12505983
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with CTSA: view

No data available for SIGNOR curated interactions for CTSA Gene

Drugs & Compounds for CTSA Gene

(16) Drugs for CTSA Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
deoxycholic acid Approved Pharma Target 51
Remdesivir Approved, Investigational Pharma Enzyme, substrate 0
Sofosbuvir Approved Pharma Enzyme, substrate 384
Tenofovir alafenamide Approved Pharma Enzyme, substrate 0
boceprevir Approved, Withdrawn Pharma 0

(6) Additional Compounds for CTSA Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1

(4) Tocris Compounds for CTSA Gene

Compound Action Cas Number
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion 88321-09-9
L 006235 Potent cathepsin K inhibitor 294623-49-7
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
SID 26681509 Cathepsin L inhibitor 958772-66-2

(2) ApexBio Compounds for CTSA Gene

Compound Action Cas Number
E-64-c Inhibitor of cysteine proteinases 76684-89-4
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
genes like me logo Genes that share compounds with CTSA: view

Drug products for research

Transcripts for CTSA Gene

mRNA/cDNA for CTSA Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTSA

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CTSA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - - - - -
SP2: - - -
SP3:
SP4: - -
SP5: - - - - -
SP6:
SP7:
SP8: -
SP9:
SP10:

Relevant External Links for CTSA Gene

GeneLoc Exon Structure for
CTSA

Expression for CTSA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTSA Gene

mRNA differential expression in normal tissues according to GTEx for CTSA Gene

This gene is overexpressed in Adrenal Gland (x5.5) and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for CTSA Gene

This gene is overexpressed in Fetal gut (9.8), Amniocyte (9.4), Urine (7.5), and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTSA Gene



Protein tissue co-expression partners for CTSA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTSA

SOURCE GeneReport for Unigene cluster for CTSA Gene:

Hs.609336

Evidence on tissue expression from TISSUES for CTSA Gene

  • Nervous system(5)
  • Skin(4.9)
  • Liver(4.7)
  • Blood(4.7)
  • Intestine(4.5)
  • Kidney(4.1)
  • Lung(4.1)
  • Pancreas(3.6)
  • Stomach(3.3)
  • Muscle(2.9)
  • Heart(2.9)
  • Spleen(2.6)
  • Adrenal gland(2.5)
  • Bone marrow(2.5)
  • Lymph node(2.4)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CTSA: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CTSA Gene

Orthologs for CTSA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTSA 29
  • 98.98 (n)
Dog
(Canis familiaris)
Mammalia CTSA 29 30
  • 88.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTSA 29 30
  • 87.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctsa 29 16 30
  • 86.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctsa 29
  • 85.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia CTSA 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTSA 30
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTSA 29 30
  • 70.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTSA 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctsa 29
  • 65.02 (n)
Str.6361 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1827 29
Zebrafish
(Danio rerio)
Actinopterygii ctsa 29 30
  • 66.07 (n)
OneToMany
CTSA (1 of 2) 30
  • 65 (a)
OneToMany
zgc65802 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2348 29
Worm
(Caenorhabditis elegans)
Secernentea F13D12.6 29 30
  • 50 (n)
OneToMany
K10B2.2 30
  • 39 (a)
OneToMany
F41C3.5 30
  • 39 (a)
OneToMany
Y40D12A.2 30
  • 30 (a)
OneToMany
F32A5.3 30
  • 17 (a)
OneToMany
C08H9.1 30
  • 15 (a)
OneToMany
Y16B4A.2 30
  • 9 (a)
OneToMany
K10C2.1 30
  • 8 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL328C 29
  • 49.25 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRC1 29 30
  • 47.58 (n)
ManyToMany
-- 30
  • 26 (a)
ManyToMany
-- 32
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09977g 29
  • 46.64 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons scpl20 29
  • 47.2 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0321700 29
  • 48.52 (n)
Os.8411 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU00477 29
  • 48.83 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cpy1 29
  • 46.16 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4677 29
Species where no ortholog for CTSA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CTSA Gene

ENSEMBL:
Gene Tree for CTSA (if available)
TreeFam:
Gene Tree for CTSA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTSA: view image
Alliance of Genome Resources:
Additional Orthologs for CTSA

Paralogs for CTSA Gene

Paralogs for CTSA Gene

(2) SIMAP similar genes for CTSA Gene using alignment to 7 proteins:

  • PPGB_HUMAN
  • L8E8P5_HUMAN
  • Q5JZG9_HUMAN
  • Q5JZH0_HUMAN
  • U3KQ41_HUMAN
  • U3KQF1_HUMAN
  • U3KQU6_HUMAN
genes like me logo Genes that share paralogs with CTSA: view

Variants for CTSA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTSA Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1010587 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,895,084(+) C/T
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1017981 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,895,136(+) G/A
NM_000308.4(CTSA):c.1088+3G>A
INTRON
1022644 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,898,416(+) T/C
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1023139 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,894,702(+) T/C
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030729 Pathogenic: Combined deficiency of sialidase AND beta galactosidase 45,891,623(+) CT/C
NM_000308.4(CTSA):c.56del (p.Leu19fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTSA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTSA Gene

Variant ID Type Subtype PubMed ID
nsv482069 CNV gain 20164927
nsv517296 CNV loss 19592680
nsv833990 CNV loss 17160897
nsv833991 CNV loss 17160897

Variation tolerance for CTSA Gene

Residual Variation Intolerance Score: 18.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSA Gene

Human Gene Mutation Database (HGMD)
CTSA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSA
Leiden Open Variation Database (LOVD)
CTSA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSA Gene

Disorders for CTSA Gene

MalaCards: The human disease database

(33) MalaCards diseases for CTSA Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
galactosialidosis
  • gsl
cathepsin a-related arteriopathy-strokes-leukoencephalopathy
  • carasal
absolute glaucoma
  • blind hypertensive eye
glycoproteinosis
  • mucolipidosis type i
gm1 gangliosidosis
  • beta-galactosidase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search CTSA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPGB_HUMAN
  • Galactosialidosis (GSL) [MIM:256540]: A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. {ECO:0000269 PubMed:10944848, ECO:0000269 PubMed:1756715, ECO:0000269 PubMed:8514852, ECO:0000269 PubMed:8968752}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CTSA

genes like me logo Genes that share disorders with CTSA: view

No data available for Genatlas for CTSA Gene

Publications for CTSA Gene

  1. Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (PMID: 10944848) Takiguchi K … Sakuraba H (Journal of human genetics 2000) 3 4 22
  2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PMID: 8968752) Zhou XY … d'Azzo A (Human molecular genetics 1996) 3 4 22
  3. Protective protein gene mutations in galactosialidosis. (PMID: 8514852) Shimmoto M … Suzuki Y (The Journal of clinical investigation 1993) 3 4 72
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Products for CTSA Gene

Sources for CTSA Gene