CTSA - cathepsin A Gene

Also Known as GSL; GLB2; NGBE; PPCA; PPGB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5476

About CTSA

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,891,335-45,898,820 (from NCBI)

This gene has 40 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 65.7), kidney (RPKM 65.3) and 25 other tissues.

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]

CTSA Products (3)

mRNA	Protein	Name
NM_000308.4	NP_000299.3	lysosomal protective protein isoform b preproprotein
NM_001127695.3	NP_001121167.1	lysosomal protective protein isoform b preproprotein
NM_001167594.3	NP_001161066.2	lysosomal protective protein isoform c precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables serine-type carboxypeptidase activity	IMP IMP: Inferred from mutant phenotype	1907282	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of chaperone-mediated autophagy	IGI IGI: Inferred from genetic interaction	12505983	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	12505983	GOA
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	12505983	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTSA Protein Structure

Peptidase_S10

0
100
200
300
400
480 a.a.

Protein Preferred Names	Protein Names
lysosomal protective protein	beta-galactosidase 2

Recombinant CTSA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7745	Cathepsin A Protein, Human (HEK293, His, solution)	P10619-1 (A29-Y480)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P7745A	Cathepsin A Protein, Human (HEK293, His)	P10619-1 (A29-Y480)	≥ 95%, as determined by reducing SDS-PAGE.

CTSA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810908	Cathepsin A 32k Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Galactosialidosis	Goldberg Syndrome Neuraminidase Deficiency With Beta-Galactosidase Deficiency Ppca Deficiency GSL Lysosomal Protective Protein Deficiency Cathepsin A Deficiency Neuraminidase/Beta-Galactosidase Expression Protective Protein/Cathepsin A Deficiency Ngbe Cathepsin A Deficiency Of Lysosomal Protective Protein Deficiency Of Deficiency Of Cathepsin A Neuraminidase Beta-Galactosidase Deficiency Protective Protein Cathepsin A Deficiency
Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy	Carasal
Absolute Glaucoma	Blind Hypertensive Eye Glaucoma Absolute
Glycoproteinosis	Sialidosis Mucolipidosis Type I Mucolipidoses Cherry Red Spot Myoclonus Syndrome Mucolipidosis I Myoclonus Cherry Red Spot Syndrome Type I Mucolipidosis Lipomucopolysaccharidosis Disorders Of Glycoprotein Metabolism Glycoprotein Storage Disorder
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Gangliosidosis	Gangliosidoses
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Acute Gonococcal Salpingitis	Gonococcal Salpingitis, Specified As Acute
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Atrophic Rhinitis	Rhinitis, Atrophic Ozena Rhinitis Sicca Dry Rhinitis Ozaena
Mucolipidosis
Chronic Gonococcal Salpingitis	Gonococcal Salpingitis
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Gm1-Gangliosidosis, Type Ii	Gm1 Gangliosidosis Type 2 GM1G2 Gangliosidosis, Generalized Gm1, Type 2 Juvenile Gm1 Gangliosidosis Gangliosidosis Generalized Gm1 Type 2 Gangliosidosis, Generalized Gm1, Juvenile Type Gangliosidosis, Generalized Gm1, Type Ii Gangliosidosis Generalized Gm1 Juvenile Type Late-Infantile Gm1 Gangliosidosis Gm1-Gangliosidosis 2 Gangliosidosis Generalized Gm1 Late Infantile Type Gm1-Gangliosidosis Generalized Juvenile Type Gangliosidosis, Gm1, Type Ii
Cataract 48	CTRCT48
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Mucopolysaccharidosis, Type Ivb	Mucopolysaccharidosis Type Ivb Mps Ivb MPS4B Morquio Syndrome B Beta-D-Galactosidase Deficiency Morquio Disease Type B Mps 4b Mucopolysaccharidosis Type 4b Mpsivb Morquio Disease, Type B Mucopolysaccharidosis Type Iv-B Mucopolysaccharidosis 4b Morquio'S Syndrome B Mps-Ivb
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Chronic Salpingitis
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Pelvic Inflammatory Disease	Pid
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Hereditary Diffuse Leukoencephalopathy With Spheroids Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Alsp Gpsc Subcortical Gliosis Of Neumann Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1 Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids Hdls HDLS1 Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia Gliosis, Familial Progressive Subcortical Leukoencephalopathy, Diffuse Hereditary, With Spheroids Pold Pigmentary Orthochromatic Leukodystrophy Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Familial Progressive Subcortical Gliosis Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant Dementia, Familial, Neumann Type Adult-Onset Leukodystrophy With Neuroaxonal Spheroids Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids Neuroaxonal Leukodystrophy Fpsg Familial Dementia, Neumann Type Familial Dementia Neumann Type Leukoencephalopathy, Diffuse Hereditary, With Spheroid
Acute Salpingitis
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Sphingolipidosis	Sphingolipidoses
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Crv Rvcl Rvcl-S Vasculopathy, Retinal, With Cerebral Leukodystrophy Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena Retinal Vasculopathy With Cerebral Leukodystrophy Retinal Vasculopathy And Cerebral Leukoencephalopathy Hereditary Vascular Retinopathy Hvr RVCLS Cerebroretinal Vasculopathy, Hereditary Cerebroretinal Vasculopathy Herns Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly Hereditary Cerebroretinal Vasculopathy Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke Hereditary Systemic Angiopathy Hsa Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations Adrvcl Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Atrial Septal Defect 1	ASD1 Atrial Heart Septal Defect 1 Asd
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03321	CTSA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18752	Ctsa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25239	Ctsa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CTSA	RGD	RGD:1309070
Bos taurus	CTSA	VGNC	VGNC:27812
Canis familiaris	CTSA	VGNC	VGNC:39708
Mus musculus	CTSA	MGD	MGI:97748
Felis catus	CTSA	VGNC	VGNC:80077
Macaca mulatta	CTSA	VGNC	VGNC:71617
Others	CTSA	NCBI