ENSG00000064601
Homo sapiens activity CTSA serine carboxypeptidase regulation protein lysosomal membrane peptidase active site hydrolase proteolysis glycosphingolipid process intracellular neutrophil degranulation chaperone-mediated autophagy extracellular lumen metabolism corneal opacities s alpha beta fold carboxypeptidases histidine
Features Gene ID: ENSG00000064601 Biological name :CTSA Synonyms : cathepsin A / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 20 Strand: 1 Band: q13.12 Gene start: 45890144 Gene end: 45898820 Corresponding Affymetrix probe sets: 200661_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000004936135476
See in Manteia .
613111 NM_001127695 NM_000308 NM_001167594 NP_000299 NP_001121167 NP_001161066 P10619 Q5JZH0 U3KQ41 U3KQF1 U3KQU6 X6R5C5 X6R8A1 ENSG00000064601 Related genetic diseases (OMIM): 256540 - Galactosialidosis, 256540
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )No match Protein motifs (from Interpro ) IPR001563 Peptidase S10, serine carboxypeptidase IPR018202 Serine carboxypeptidase, serine active site IPR029058 Alpha/Beta hydrolase fold IPR033124 Serine carboxypeptidases, histidine active site
Gene Ontology (GO ) nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen compound metabolic process primary metabolic process organic substance metabolic process cellular metabolic process macromolecule localization establishment of localization cellular localization regulation of biological quality regulation of molecular function immune response cell activation immune effector process catabolic process process utilizing autophagic mechanism nitrogen cnitrogen compound metabolic process primary meprimary metabolic process organic suorganic substance metabolic process cellular mcellular metabolic process macromolecmacromolecule localization establishmestablishment of localization cellular lcellular localization regulationregulation of biological quality regulationregulation of molecular function immune resimmune response cell activcell activation immune effimmune effector process catabolic catabolic process process utprocess utilizing autophagic mechanism catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a protein hydrolase activity enzyme regulator activity catalytic activity, acting on a proteincatalytic activity, acting on a protein hydrolase activityhydrolase activity enzyme regulator activityenzyme regulator activity extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular region cell organelle membrane-enclosed lumen membrane extracellular regionextracellular region cellcell organelleorganelle membrane-enclosed lumenmembrane-enclosed lumen membranemembrane
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal recessive inheritance Head and neck abnormality Abnormality of the ears Abnormality of the cardiovascular system Integument abnormality Abnormality of the eyes Abnormality of the musculoskeletal system Neoplasia Neurological abnormality Immunological abnormality Abnormality of the digestive system Growth abnormality Metabolism abnormality Autosomal Autosomal recessive inheritance Head and nHead and neck abnormality AbnormalitAbnormality of the ears AbnormalitAbnormality of the cardiovascular system IntegumentIntegument abnormality AbnormalitAbnormality of the eyes AbnormalitAbnormality of the musculoskeletal system NeoplasiaNeoplasia NeurologicNeurological abnormality ImmunologiImmunological abnormality AbnormalitAbnormality of the digestive system Growth abnGrowth abnormality MetabolismMetabolism abnormality HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0000280 Coarse facial features
Show HP:0000365 Hearing loss
Show HP:0000524 Conjunctival telangiectasia "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators]
Show HP:0000943 Dysostosis multiplex
Show HP:0001028 Hemangiomas "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators]
Show HP:0001249 Mental retardation
Show HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show HP:0001433 Hepatosplenomegaly
Show HP:0002652 Skeletal dysplasia
Show HP:0003468 Abnormalities of the vertebrae
Show HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
Show HP:0007759 Corneal opacities, not impairing visual acuity
Show HP:0007957 Variable degree of corneal opacities
Show HP:0008166 Decreased beta-galactosidase activity
Show HP:0010729 Cherry red spot of the macula
Show
Interacting proteins (from Reactome )
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