CTSZ (cathepsin Z)

Gene

• Entrez ID: 1522
• Gene name: Cathepsin Z
• Gene symbol: CTSZ
• Synonyms (NCBI Gene): CTSX
• Chromosome: 20
• Chromosome location: 20q13.32
• Summary: The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. T

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021991	hsa-miR-128-3p	Sequencing	20371350
MIRT029430	hsa-miR-26b-5p	Microarray	19088304
MIRT041024	hsa-miR-505-3p	CLASH	23622248
MIRT039629	hsa-miR-615-3p	CLASH	23622248
MIRT916086	hsa-miR-1264	CLIP-seq
MIRT916087	hsa-miR-137	CLIP-seq
MIRT916088	hsa-miR-3161	CLIP-seq
MIRT916089	hsa-miR-3909	CLIP-seq
MIRT916090	hsa-miR-4790-3p	CLIP-seq
MIRT916091	hsa-miR-4795-3p	CLIP-seq
MIRT916092	hsa-miR-656	CLIP-seq
MIRT2207366	hsa-miR-1914	CLIP-seq
MIRT2207367	hsa-miR-3185	CLIP-seq
MIRT916089	hsa-miR-3909	CLIP-seq
MIRT916089	hsa-miR-3909	CLIP-seq
MIRT916089	hsa-miR-3909	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002003	Process	Angiotensin maturation	TAS
GO:0004180	Function	Carboxypeptidase activity	IMP	19433310
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 31515488, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19433310
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	19433310, 22365146
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	19433310
GO:0005938	Component	Cell cortex	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	19433310
GO:0006508	Process	Proteolysis	TAS	9642240
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IDA	15752368, 22365146
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	TAS	9642240
GO:0009986	Component	Cell surface	IEA
GO:0010757	Process	Negative regulation of plasminogen activation	IMP	19433310
GO:0016787	Function	Hydrolase activity	IEA
GO:0016807	Function	Cysteine-type carboxypeptidase activity	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030426	Component	Growth cone	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315
GO:0031410	Component	Cytoplasmic vesicle	IDA	19433310
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0051603	Process	Proteolysis involved in protein catabolic process	IBA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 603169
• HGNC: 2547
• e!Ensembl: ENSG00000101160

Protein

• UniProt ID: Q9UBR2
• Protein name: Cathepsin Z (EC 3.4.18.1) (Cathepsin P) (Cathepsin X)
• Protein function: Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (PubMed:10504234). Capable of producing kinin potentiating peptides (By similarity).
• PDB: 1DEU, 1EF7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00112	Peptidase_C1	62 → 296	Papain family cysteine protease	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10653163}.
• Sequence:

  MARRGPGWRPLLLLVLLAGAAQGGLYFRRGQTCYRPLRGDGLAPLGRSTYPRPHEYLSPA
  DLPKSWDWRNVDGVNYASITRNQHIPQYCGSCWAHASTSAMADRINIKRKGAWPSTLLSV
  QNVIDCGNAGSCEGGNDLSVWDYAHQHGIPDETCNNYQAKDQECDKFNQCGTCNEFKECH
  AIRNYTLWRVGDYGSLSGREKMMAEIYANGPISCGIMATERLANYTGGIYAEYQDTTYIN
  HVVSVAGWGISDGTEYWIVRNSWGEPWGERGWLRIVTSTYKDGKGARYNLAIEEHCTFGD
  PIV

• Sequence length: 303

Pathways

KEGG:

Lysosome
Apoptosis

Reactome:

Metabolism of Angiotensinogen to Angiotensins
COPII-mediated vesicle transport
Lysosome Vesicle Biogenesis
Cargo concentration in the ER
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15162377		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25442015		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	30087368		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille syndrome	Pubtator	30087368	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10745011	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39838438	Stimulate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22330678		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10745011	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35008858	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20133781		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15162377		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32928870	Associate	★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis 2	Chondrocalcinosis	Pubtator	35008858	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25442015		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35444189	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25442015		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32928870	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24657443	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	8585423		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30894197, 36552871, 40348204	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35163706	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30894197	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35155681	Stimulate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	39838438	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35163706	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	29795304, 30087368	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30087368	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30367810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20133781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15162377, 23152410, 23326535, 31576646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16025436		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23152410, 23326535, 25442015, 26325675, 28904354		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35444189	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28486971		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35049167	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30942401		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25442015, 8585423		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35163706	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28904354		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35008858	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25148458, 31278293	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31278293		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30450037		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29795304, 30087368		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15162377, 23152410, 23326535, 31576646		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15162377		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34378678	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	38184627	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	37563071	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	23621429		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30087368	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30087368		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16025436		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38631604	Associate	★☆☆☆☆ Found in Text Mining only