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FLASH GENE

Symbol

CTSH

contributors: mct/shn - updated : 07-07-2014

HGNC name	cathepsin H
HGNC id	2535

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004390 12 - 1494 NP_004381 41 335 - 2003 1451599

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Digestive stomach       highly Endocrine parathyroid       moderately Lymphoid/Immune lymph node       highly   tonsils       moderately Respiratory lung       moderately Urinary bladder       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a dimer of disulfide-linked heavy and light chains
	N-terminal head domain (residues 1–400), which includes the principal integrin-binding site,
	a large C-terminal rod domain (residues 482–2541), which contains lateral integrin-binding sites and binding sites

mono polymer

heteromer , dimer

isoforms

Precursor

synthesized as an inactive precursor and activated by proteolytic removal of its propeptide

HOMOLOGY

interspecies	ortholog to Ctsh, Mus musculus
	ortholog to CTSH, Pan troglodytes
	ortholog to Ctsh, Rattus norvegicus
	ortholog to ctsh, Danio rerio

Homologene

FAMILY

peptidase C1 protein family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lysosome
text	requires exclusively sortilin for its transport to the lysosomes
	in secretory vesicles that produces (Met)enkephalin (ME)

basic FUNCTION	cysteine proteinase, involved in matrix degradation during endochondral ossification
	lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins
	acting both as an aminopeptidase and as an endopeptidase
	involved in maturation of the biologically active Surfactant protein B peptide
	may play a role in the activation of an adoptive immune response
	specific role for CTSH in the pleural host response
	has proGrB convertase activity in vitro
	role for CTSH as an aminopeptidase for enkephalin and galanin peptide neurotransmitter production
	unique member of the cysteine cathepsins that acts primarily as an aminopeptidase
	aminopeptidase that is involved in tumor progression
	role for this cathepsin in the axial length determination
	is an important regulator of beta-cell function during progression of Type 1 diabetes

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimer of disulfide-linked heavy and light chains

INTERACTION

DNA

RNA

small molecule

protein	cystatin A (stefin A), CSTA 5 (
	talin is a substrate for cathepsin H (CTSH), a lysosomal cysteine protease with a strong aminopeptidase activity
	affects cell migration by influencing the activity of integrins, a process that could be regulated by talin cleavage
	CTSH-mediated processing of TLN1 might promote cancer cell progression by affecting integrin activation and adhesion strength
	TLN1 is a specific substrate of CTSH that could be associated with regulation of ITGB3 receptors, focal adhesion (FA) strength, and cell migration

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   increased expression correlated with malignant progression of prostate tumors constitutional       loss of function in severe myopia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice lacking both CatC and CatH expression have cytotoxic lymphocytes with reduced convertase activity
	cathepsin H deficient mice also show a substantial decrease in galanin peptide neurotransmitter levels in brain