• Gene id: 1512

Gene Summary

• Gene Symbol: CTSH   Gene   UCSC   Ensembl
• Aliases: ACC-4, ACC-5, ACC4, ACC5, CPSB
• Gene name: cathepsin H
• Alternate names: pro-cathepsin H, N-benzoylarginine-beta-naphthylamide hydrolase, aleurain, cathepsin B3, cathepsin BA,
• Gene location: 15q25.1 (78945097: 78921057)     Exons: 14     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encode

Protein Summary

• Protein general information: P09668  
  • Name: Pro cathepsin H [Cleaved into: Cathepsin H mini chain; Cathepsin H (EC 3.4.22.16); Cathepsin H heavy chain; Cathepsin H light chain]
  • Length: 335  
  • Mass: 37394
• Sequence:

  MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTF
  KMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGAL
  ESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFV
  KDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVK
  NSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV

• Structural information:
  • Interpro: IPR038765  IPR025661  IPR000169  IPR025660  IPR000668   IPR039417  IPR013201  
  • Prosite: PS00640 PS00139 PS00639
  • CDD: cd02248
  • PDB: 1BZN 6CZK 6CZS
  • PDBsum: 1BZN 6CZK 6CZS
  • STRING: ENSP00000220166
• Other Databases: GeneCards:  CTSH  Malacards:  CTSH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0051603	proteolysis involved in cellular protein catabolic process	IBA	biological process
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:0097486	multivesicular body lumen	TAS	cellular component
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0033619	membrane protein proteolysis	IEA	biological process
GO:0031648	protein destabilization	IEA	biological process
GO:0016505	peptidase activator activity involved in apoptotic process	IEA	molecular function
GO:0010952	positive regulation of peptidase activity	IEA	biological process
GO:0010634	positive regulation of epithelial cell migration	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0001913	T cell mediated cytotoxicity	IEA	biological process
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:0060448	dichotomous subdivision of terminal units involved in lung branching	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0031638	zymogen activation	IEA	biological process
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0010952	positive regulation of peptidase activity	IDA	biological process
GO:0010813	neuropeptide catabolic process	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0097208	alveolar lamellar body	IDA	cellular component
GO:0070324	thyroid hormone binding	IDA	molecular function
GO:0031638	zymogen activation	IDA	biological process
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0002764	immune response-regulating signaling pathway	IDA	biological process
GO:0070371	ERK1 and ERK2 cascade	IDA	biological process
GO:0043129	surfactant homeostasis	IDA	biological process
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0030108	HLA-A specific activating MHC class I receptor activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0010815	bradykinin catabolic process	IDA	biological process
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0004252	serine-type endopeptidase activity	ISS	molecular function
GO:0001913	T cell mediated cytotoxicity	ISS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0002250	adaptive immune response	IEP	biological process
GO:0097067	cellular response to thyroid hormone stimulus	IEP	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0019882	antigen processing and presentation	TAS	biological process
GO:0010634	positive regulation of epithelial cell migration	ISS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0060448	dichotomous subdivision of terminal units involved in lung branching	ISS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0032526	response to retinoic acid	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa04210	Apoptosis

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Type 1 diabetes mellitus	KEGG:H00408
Huntington's disease	PMID:7561949
Transitional cell carcinoma	PMID:15183956
Glioblastoma multiforme	PMID:8640738
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq