Human Gene CTSA (ENST00000372484.8) from GENCODE V44
Description: cathepsin A (from HGNC CTSA)
RefSeq Summary (NR_133656): 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].
Gencode Transcript: ENST00000372484.8
Gencode Gene: ENSG00000064601.21
Transcript (Including UTRs)
Position: hg38 chr20:45,890,254-45,898,820 Size: 8,567 Total Exon Count: 15 Strand: +
Coding Region
Position: hg38 chr20:45,891,326-45,898,450 Size: 7,125 Coding Exon Count: 15
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: CTSA
Diseases sorted by gene-association score: galactosialidosis * (1712), glycoproteinosis (22), ring chromosome 20 (17), acute gonococcal salpingitis (16), mucopolysaccharidosis iv (12), myoclonic cerebellar dyssynergia (11), hemolytic anemia due to triosephosphate isomerase deficiency (11), angiokeratoma (11), fucosidosis (10), inclusion-cell disease (10), mannosidosis, alpha-, types i and ii (9), lysosomal storage disease (9), autosomal dominant nonsyndromic deafness 69 (9), corneal endothelial dystrophy, autosomal recessive (9), atrophic rhinitis (9), acute closed-angle glaucoma (9), chronic gonococcal salpingitis (9), aspartylglucosaminuria (8), chronic closed-angle glaucoma (7), chronic salpingitis (7), mannosidosis, beta (7), mucolipidosis iv (6), gangliosidosis gm2 (6), mucopolysaccharidosis is (6), acute salpingitis (6), pelvic inflammatory disease (5), sphingolipidosis (5), tay-sachs disease (5), leber congenital amaurosis (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK172808 - Homo sapiens cDNA FLJ23969 fis, clone HEP16905, highly similar to Lysosomal protective protein precursor (EC 3.4.16.5).LF206020 - JP 2014500723-A/13523: Polycomb-Associated Non-Coding RNAs.MA441597 - JP 2018138019-A/13523: Polycomb-Associated Non-Coding RNAs.AK304536 - Homo sapiens cDNA FLJ60397 complete cds, highly similar to Lysosomal protective protein precursor (EC 3.4.16.5).AB209705 - Homo sapiens mRNA for carrier family 6, member 8 variant, partial cds.AK312898 - Homo sapiens cDNA, FLJ93344, highly similar to Homo sapiens protective protein for beta-galactosidase (galactosialidosis) (PPGB), mRNA.BC093009 - Homo sapiens cathepsin A, mRNA (cDNA clone MGC:110864 IMAGE:30348898), complete cds.AK307701 - Homo sapiens cDNA, FLJ97649.BC000597 - Homo sapiens cathepsin A, mRNA (cDNA clone MGC:1994 IMAGE:3346150), complete cds.M22960 - Human protective protein mRNA, complete cds.DQ891935 - Synthetic construct clone IMAGE:100004565; FLH181560.01X; RZPDo839E09136D protective protein for beta-galactosidase (galactosialidosis) (PPGB) gene, encodes complete protein.DQ895122 - Synthetic construct Homo sapiens clone IMAGE:100009582; FLH181556.01L; RZPDo839E09135D protective protein for beta-galactosidase (galactosialidosis) (PPGB) gene, encodes complete protein.AK097786 - Homo sapiens cDNA FLJ40467 fis, clone TESTI2042326, highly similar to LYSOSOMAL PROTECTIVE PROTEIN PRECURSOR (EC 3.4.16.5).LF350593 - JP 2014500723-A/158096: Polycomb-Associated Non-Coding RNAs.MA586170 - JP 2018138019-A/158096: Polycomb-Associated Non-Coding RNAs.LF350597 - JP 2014500723-A/158100: Polycomb-Associated Non-Coding RNAs.MA586174 - JP 2018138019-A/158100: Polycomb-Associated Non-Coding RNAs.LF350599 - JP 2014500723-A/158102: Polycomb-Associated Non-Coding RNAs.MA586176 - JP 2018138019-A/158102: Polycomb-Associated Non-Coding RNAs.LF350600 - JP 2014500723-A/158103: Polycomb-Associated Non-Coding RNAs.MA586177 - JP 2018138019-A/158103: Polycomb-Associated Non-Coding RNAs.LF350603 - JP 2014500723-A/158106: Polycomb-Associated Non-Coding RNAs.MA586180 - JP 2018138019-A/158106: Polycomb-Associated Non-Coding RNAs.LF350604 - JP 2014500723-A/158107: Polycomb-Associated Non-Coding RNAs.MA586181 - JP 2018138019-A/158107: Polycomb-Associated Non-Coding RNAs.LF350607 - JP 2014500723-A/158110: Polycomb-Associated Non-Coding RNAs.MA586184 - JP 2018138019-A/158110: Polycomb-Associated Non-Coding RNAs.AK055177 - Homo sapiens cDNA FLJ30615 fis, clone CTONG2001226, moderately similar to LYSOSOMAL PROTECTIVE PROTEIN PRECURSOR (EC 3.4.16.5).LF350608 - JP 2014500723-A/158111: Polycomb-Associated Non-Coding RNAs.MA586185 - JP 2018138019-A/158111: Polycomb-Associated Non-Coding RNAs.LF350609 - JP 2014500723-A/158112: Polycomb-Associated Non-Coding RNAs.MA586186 - JP 2018138019-A/158112: Polycomb-Associated Non-Coding RNAs.AF086236 - Homo sapiens full length insert cDNA clone ZD20E11.JD477291 - Sequence 458315 from Patent EP1572962.JD535389 - Sequence 516413 from Patent EP1572962.JD187158 - Sequence 168182 from Patent EP1572962.JD335880 - Sequence 316904 from Patent EP1572962.LF350610 - JP 2014500723-A/158113: Polycomb-Associated Non-Coding RNAs.MA586187 - JP 2018138019-A/158113: Polycomb-Associated Non-Coding RNAs.JD122092 - Sequence 103116 from Patent EP1572962.JD089100 - Sequence 70124 from Patent EP1572962.JD394124 - Sequence 375148 from Patent EP1572962.LF350611 - JP 2014500723-A/158114: Polycomb-Associated Non-Coding RNAs.MA586188 - JP 2018138019-A/158114: Polycomb-Associated Non-Coding RNAs.JD424377 - Sequence 405401 from Patent EP1572962.JD502591 - Sequence 483615 from Patent EP1572962.JD316954 - Sequence 297978 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04142 - Lysosomehsa04614 - Renin-angiotensin system
Other Names for This Gene
Alternate Gene Symbols: AK172808, ENST00000372484.1, ENST00000372484.2, ENST00000372484.3, ENST00000372484.4, ENST00000372484.5, ENST00000372484.6, ENST00000372484.7, uc002xqh.1, uc002xqh.2, uc002xqh.3, uc002xqh.4, uc002xqh.5, X6R8A1UCSC ID: ENST00000372484.8RefSeq Accession: NR_133656
CCDS: CCDS46609.1 , CCDS13385.2 , CCDS54467.1
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.