CTSH (cathepsin H)

Gene

• Entrez ID: 1512
• Gene name: Cathepsin H
• Gene symbol: CTSH
• Synonyms: ACC-4, ACC-5, ACC4, ACC5, CPSB
• Chromosome: 15
• Chromosome location: 15q25.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022220	hsa-miR-124-3p	Microarray	18668037
MIRT915920	hsa-miR-1178	CLIP-seq
MIRT915921	hsa-miR-1285	CLIP-seq
MIRT915922	hsa-miR-2114	CLIP-seq
MIRT915923	hsa-miR-299-3p	CLIP-seq
MIRT915924	hsa-miR-3150a-3p	CLIP-seq
MIRT915925	hsa-miR-3175	CLIP-seq
MIRT915926	hsa-miR-3180-5p	CLIP-seq
MIRT915927	hsa-miR-3187-5p	CLIP-seq
MIRT915928	hsa-miR-3190	CLIP-seq
MIRT915929	hsa-miR-3689d	CLIP-seq
MIRT915930	hsa-miR-3907	CLIP-seq
MIRT915931	hsa-miR-3978	CLIP-seq
MIRT915932	hsa-miR-4254	CLIP-seq
MIRT915933	hsa-miR-4292	CLIP-seq
MIRT915934	hsa-miR-4308	CLIP-seq
MIRT915935	hsa-miR-4464	CLIP-seq
MIRT915936	hsa-miR-4491	CLIP-seq
MIRT915937	hsa-miR-4505	CLIP-seq
MIRT915938	hsa-miR-4633-3p	CLIP-seq
MIRT915939	hsa-miR-4645-5p	CLIP-seq
MIRT915940	hsa-miR-4657	CLIP-seq
MIRT915941	hsa-miR-4667-5p	CLIP-seq
MIRT915942	hsa-miR-4673	CLIP-seq
MIRT915943	hsa-miR-4700-5p	CLIP-seq
MIRT915944	hsa-miR-4748	CLIP-seq
MIRT915945	hsa-miR-612	CLIP-seq
MIRT915946	hsa-miR-637	CLIP-seq
MIRT915947	hsa-miR-939	CLIP-seq
MIRT915937	hsa-miR-4505	CLIP-seq
MIRT915921	hsa-miR-1285	CLIP-seq
MIRT915926	hsa-miR-3180-5p	CLIP-seq
MIRT915927	hsa-miR-3187-5p	CLIP-seq
MIRT2207340	hsa-miR-4257	CLIP-seq
MIRT915937	hsa-miR-4505	CLIP-seq
MIRT915939	hsa-miR-4645-5p	CLIP-seq
MIRT915942	hsa-miR-4673	CLIP-seq
MIRT915945	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	ISS
GO:0001913	Process	T cell mediated cytotoxicity	ISS
GO:0002250	Process	Adaptive immune response	IEP	15196205
GO:0002764	Process	Immune response-regulating signaling pathway	IDA	16822283
GO:0004175	Function	Endopeptidase activity	IDA	14766755, 15127951
GO:0004177	Function	Aminopeptidase activity	IDA	15127951
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA	21873635
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	6203523
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	2849458
GO:0004252	Function	Serine-type endopeptidase activity	ISS
GO:0005515	Function	Protein binding	IPI	6203523, 15127951, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	9050938, 18216060, 21217776
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	1837142, 15196205, 16822283
GO:0005829	Component	Cytosol	IDA	9050938
GO:0006508	Process	Proteolysis	IDA	6203523, 8811434
GO:0006508	Process	Proteolysis	TAS	2849458
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
GO:0008233	Function	Peptidase activity	IDA	18216060
GO:0008234	Function	Cysteine-type peptidase activity	IDA	8811434
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	IDA	20435891
GO:0010628	Process	Positive regulation of gene expression	IDA	21217776
GO:0010634	Process	Positive regulation of epithelial cell migration	ISS
GO:0010813	Process	Neuropeptide catabolic process	IDA	15127951
GO:0010815	Process	Bradykinin catabolic process	IDA	15127951
GO:0010952	Process	Positive regulation of peptidase activity	IDA	20435891
GO:0019882	Process	Antigen processing and presentation	TAS	15196205
GO:0030108	Function	HLA-A specific activating MHC class I receptor activity	IDA	16822283
GO:0030335	Process	Positive regulation of cell migration	IDA	21217776
GO:0031638	Process	Zymogen activation	IDA	20435891
GO:0031648	Process	Protein destabilization	IMP	17500053
GO:0032526	Process	Response to retinoic acid	ISS
GO:0033619	Process	Membrane protein proteolysis	IDA	14766755
GO:0034774	Component	Secretory granule lumen	TAS
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043129	Process	Surfactant homeostasis	IDA	18216060
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IBA	21873635
GO:0060448	Process	Dichotomous subdivision of terminal units involved in lung branching	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070324	Function	Thyroid hormone binding	IDA	21217776
GO:0070371	Process	ERK1 and ERK2 cascade	IDA	21217776
GO:0097067	Process	Cellular response to thyroid hormone stimulus	IEP	21217776
GO:0097208	Component	Alveolar lamellar body	IDA	18216060
GO:0097486	Component	Multivesicular body lumen	TAS
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 116820
• HGNC: 2535
• e!Ensembl: ENSG00000103811

Protein

• UniProt ID: P09668
• Protein 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]
• Protein function: Important for the overall degradation of proteins in lysosomes.
• PDB: 6CZK, 6CZS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08246	Inhibitor_I29	35 → 90	Cathepsin propeptide inhibitor domain (I29)	Domain
  PF00112	Peptidase_C1	116 → 332	Papain family cysteine protease	Domain

• Sequence:

  MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFAS
  NWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSV
  DWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHG
  CQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMV
  EAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVK
  NSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV

• Sequence length: 335

Pathways

KEGG:

Lysosome
Apoptosis

Reactome:

MHC class II antigen presentation
Surfactant metabolism
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	18978792, 25751624, 19430480, 18978792
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	17330099
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Narcolepsy	Narcolepsy, Narcolepsy type 1	rs104894574, rs387906655	23459209
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840

Unknown
Disease name	Disease term	dbSNP ID	References
Amnesia	Amnesia, Transient Global
Autoimmune diabetes	Diabetes, Autoimmune		18978792
Cataplexy	Cataplexy
Brittle diabetes mellitus	Brittle diabetes		18978792
Hallucinations	Hallucinations
Myeloid leukemia	Acute Myeloid Leukemia, M1		17330099
Narcolepsy-cataplexy syndrome	Narcolepsy-Cataplexy Syndrome		23459209