CTSC

Functionⁱ

Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII.1 Publication

Catalytic activityⁱ

Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro. EC:3.4.14.1

Cofactorⁱ

chlorideNote: Binds 1 Cl^- ion per heavy chain.

Activity regulationⁱ

Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine. Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion chelators.1 Publication

pH dependenceⁱ

High activity at pH 4.5-6.8.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Length
Active siteⁱ	258		1
Binding siteⁱ	302	Chloride	1
Binding siteⁱ	304	Chloride; via amide nitrogen	1
Binding siteⁱ	347	Chloride	1
Active siteⁱ	405		1
Active siteⁱ	427		1

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Hydrolase, Protease, Thiol protease
Ligand	Chloride

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS03265-MONOMER
BRENDAⁱ	3.4.14.1 2681
Reactomeⁱ	R-HSA-204005 COPII-mediated vesicle transport R-HSA-2132295 MHC class II antigen presentation R-HSA-5694530 Cargo concentration in the ER R-HSA-6798695 Neutrophil degranulation
SABIO-RKⁱ	P53634

Protein family/group databases

MEROPS protease database More...MEROPSⁱ	C01.070

MEROPSⁱ

C01.070

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Dipeptidyl peptidase 1 (EC:3.4.14.1) Alternative name(s): Cathepsin C Cathepsin J Dipeptidyl peptidase I Short name: DPP-I Short name: DPPI Dipeptidyl transferase Cleaved into the following 3 chains: Dipeptidyl peptidase 1 exclusion domain chain Alternative name(s): Dipeptidyl peptidase I exclusion domain chain Dipeptidyl peptidase 1 heavy chain Alternative name(s): Dipeptidyl peptidase I heavy chain Dipeptidyl peptidase 1 light chain Alternative name(s): Dipeptidyl peptidase I light chain
Gene namesⁱ	Name:CTSC Synonyms:CPPI
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000109861.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2528 CTSC
MIMⁱ	602365 gene
neXtProtⁱ	NX_P53634

Keywords - Cellular componentⁱ

Lysosome

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Papillon-Lefevre syndrome (PLS)13 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_016933	39	W → S in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894210Ensembl.	1
Natural variantⁱVAR_019035	67 – 74	Missing in PLS. 1 Publication	8
Natural variantⁱVAR_016934	127	H → P in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894216Ensembl.	1
Natural variantⁱVAR_019036	129	V → E in PLS. 1 PublicationCorresponds to variant dbSNP:rs760130711Ensembl.	1
Natural variantⁱVAR_019037	139	G → R in PLS. 2 PublicationsCorresponds to variant dbSNP:rs749103588Ensembl.	1
Natural variantⁱVAR_019038	236	D → Y in PLS. 2 PublicationsCorresponds to variant dbSNP:rs764724707Ensembl.	1
Natural variantⁱVAR_009541	249	V → F in PLS. 2 Publications	1
Natural variantⁱVAR_009542	252	Q → L in PLS. 2 PublicationsCorresponds to variant dbSNP:rs104894207EnsemblClinVar.	1
Natural variantⁱVAR_019039	272	R → H in PLS. 1 PublicationCorresponds to variant dbSNP:rs587777534EnsemblClinVar.	1
Natural variantⁱVAR_009543	272	R → P in PLS. 5 PublicationsCorresponds to variant dbSNP:rs587777534EnsemblClinVar.	1
Natural variantⁱVAR_016935	286	Q → R in HMS and PLS. 2 PublicationsCorresponds to variant dbSNP:rs104894208EnsemblClinVar.	1
Natural variantⁱVAR_019040	291	C → Y in PLS. 1 PublicationCorresponds to variant dbSNP:rs748729285EnsemblClinVar.	1
Natural variantⁱVAR_039686	294	Y → H in PLS. 1 Publication	1
Natural variantⁱVAR_019041	300	G → D in PLS. 2 Publications	1
Natural variantⁱVAR_019042	300	G → S in PLS. 1 Publication	1
Natural variantⁱVAR_009544	301	G → S in PLS. 4 PublicationsCorresponds to variant dbSNP:rs104894214Ensembl.	1
Natural variantⁱVAR_019043	301	G → V in PLS. 1 Publication	1
Natural variantⁱVAR_019044	304	Y → N in PLS. 1 Publication	1
Natural variantⁱVAR_019045	312	Q → R in PLS. 1 PublicationCorresponds to variant dbSNP:rs1484758757Ensembl.	1
Natural variantⁱVAR_019046	319	E → G in PLS. 1 PublicationCorresponds to variant dbSNP:rs1294233227Ensembl.	1
Natural variantⁱVAR_009545	339	R → C in PLS. 5 PublicationsCorresponds to variant dbSNP:rs1044703733Ensembl.	1
Natural variantⁱVAR_016944	340	Y → C in PLS. 2 Publications	1
Natural variantⁱVAR_009546	347	Y → C in PLS and AP1. 3 PublicationsCorresponds to variant dbSNP:rs104894211EnsemblClinVar.	1
Natural variantⁱVAR_027249	405	H → N in PLS. 1 Publication	1
Natural variantⁱVAR_027250	405	H → R in PLS. 1 PublicationCorresponds to variant dbSNP:rs151269219Ensembl.	1
Natural variantⁱVAR_016936	429	W → C in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894215Ensembl.	1
Natural variantⁱVAR_019048	447	E → G in PLS. 2 Publications	1

Haim-Munk syndrome (HMS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_016935	286	Q → R in HMS and PLS. 2 PublicationsCorresponds to variant dbSNP:rs104894208EnsemblClinVar.		1

Periodontititis, aggressive, 1 (AP1)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_009546	347	Y → C in PLS and AP1. 3 PublicationsCorresponds to variant dbSNP:rs104894211EnsemblClinVar.		1
Natural variantⁱVAR_019047	412	Y → C in AP1. 1 PublicationCorresponds to variant dbSNP:rs28937571EnsemblClinVar.		1

Keywords - Diseaseⁱ

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1075
MalaCards human disease database More...MalaCardsⁱ	CTSC
MIMⁱ	170650 phenotype 245000 phenotype 245010 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000109861
Orphanetⁱ	2342 Haim-Munk syndrome 678 Papillon-Lefevre syndrome
PharmGKBⁱ	PA27028

Miscellaneous databases

Pharosⁱ	P53634 Tchem

Pharosⁱ

P53634 Tchem

Chemistry databases

ChEMBLⁱ	CHEMBL2252
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	2344

Polymorphism and mutation databases

BioMutaⁱ	CTSC
DMDMⁱ	317373330

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Length
Signal peptideⁱ	1 – 24	3 PublicationsAdd BLAST	24
ChainⁱPRO_0000026338	25 – 134	Dipeptidyl peptidase 1 exclusion domain chainAdd BLAST	110
PropeptideⁱPRO_0000026339	135 – 230	3 PublicationsAdd BLAST	96
ChainⁱPRO_0000026340	231 – 394	Dipeptidyl peptidase 1 heavy chainAdd BLAST	164
ChainⁱPRO_0000026341	395 – 463	Dipeptidyl peptidase 1 light chainAdd BLAST	69

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	29	N-linked (GlcNAc...) asparagine2 Publications	1
Disulfide bondⁱ	30 ↔ 118
Glycosylationⁱ	53	N-linked (GlcNAc...) asparagine2 Publications	1
Disulfide bondⁱ	54 ↔ 136
Glycosylationⁱ	119	N-linked (GlcNAc...) asparagine1 Publication	1
Disulfide bondⁱ	255 ↔ 298
Glycosylationⁱ	276	N-linked (GlcNAc...) asparagine1 Publication	1
Disulfide bondⁱ	291 ↔ 331
Disulfide bondⁱ	321 ↔ 337

Post-translational modificationⁱ

N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes.5 Publications

In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond.

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

EPDⁱ	P53634
jPOSTⁱ	P53634
MassIVEⁱ	P53634
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P53634
PaxDbⁱ	P53634
PeptideAtlas More...PeptideAtlasⁱ	P53634
PRIDEⁱ	P53634
ProteomicsDBⁱ	56595 [P53634-1] 56596 [P53634-2] 56597 [P53634-3]
TopDownProteomicsⁱ	P53634-1 [P53634-1]

PTM databases

GlyConnectⁱ	1175
iPTMnetⁱ	P53634
PhosphoSitePlusⁱ	P53634
SwissPalmⁱ	P53634

Expressionⁱ

Tissue specificityⁱ

Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas.1 Publication

Inductionⁱ

Up-regulated in lymphocytes by IL2/interleukin-2.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000109861 Expressed in 221 organ(s), highest expression level in palpebral conjunctiva
ExpressionAtlasⁱ	P53634 baseline and differential
Genevisibleⁱ	P53634 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB025364 HPA066610 HPA068434

HPAⁱ

CAB025364
HPA066610
HPA068434

Interactionⁱ

Subunit structureⁱ

Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains.

2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
	O76096	2	EBI-1047323,EBI-2807448

With

Entry

#Exp.

IntAct

Notes

O76096

2

EBI-1047323,EBI-2807448

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	107502, 26 interactors
IntActⁱ	P53634, 23 interactors
Molecular INTeraction database More...MINTⁱ	P53634
STRINGⁱ	9606.ENSP00000227266

Chemistry databases

BindingDBⁱ

P53634

Miscellaneous databases

RNActⁱ	P53634 protein

RNActⁱ

P53634 protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	32 – 35	Combined sources	4
Beta strandⁱ	37 – 48	Combined sources	12
Turnⁱ	49 – 51	Combined sources	3
Helixⁱ	54 – 56	Combined sources	3
Beta strandⁱ	60 – 69	Combined sources	10
Turnⁱ	70 – 72	Combined sources	3
Beta strandⁱ	73 – 75	Combined sources	3
Beta strandⁱ	81 – 87	Combined sources	7
Turnⁱ	88 – 90	Combined sources	3
Beta strandⁱ	91 – 96	Combined sources	6
Beta strandⁱ	99 – 110	Combined sources	12
Beta strandⁱ	113 – 121	Combined sources	9
Beta strandⁱ	123 – 128	Combined sources	6
Beta strandⁱ	133 – 141	Combined sources	9
Beta strandⁱ	254 – 256	Combined sources	3
Helixⁱ	258 – 274	Combined sources	17
Turnⁱ	275 – 277	Combined sources	3
Helixⁱ	285 – 291	Combined sources	7
Helixⁱ	297 – 299	Combined sources	3
Helixⁱ	303 – 306	Combined sources	4
Helixⁱ	309 – 313	Combined sources	5
Helixⁱ	319 – 321	Combined sources	3
Beta strandⁱ	342 – 347	Combined sources	6
Helixⁱ	357 – 367	Combined sources	11
Beta strandⁱ	370 – 374	Combined sources	5
Helixⁱ	378 – 382	Combined sources	5
Beta strandⁱ	385 – 388	Combined sources	4
Beta strandⁱ	405 – 414	Combined sources	10
Turnⁱ	416 – 418	Combined sources	3
Beta strandⁱ	421 – 426	Combined sources	6
Beta strandⁱ	431 – 433	Combined sources	3
Beta strandⁱ	438 – 442	Combined sources	5
Turnⁱ	443 – 446	Combined sources	4
Helixⁱ	447 – 449	Combined sources	3
Beta strandⁱ	455 – 459	Combined sources	5

Show more details

3D structure databases

SMRⁱ	P53634
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P53634

EvolutionaryTraceⁱ

P53634

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the peptidase C1 family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	KOG1543 Eukaryota COG4870 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000155787
HOGENOMⁱ	HOG000127503
InParanoidⁱ	P53634
KEGG Orthology (KO) More...KOⁱ	K01275
OMAⁱ	HYQNGIY
Database of Orthologous Groups More...OrthoDBⁱ	1541140at2759
PhylomeDBⁱ	P53634
TreeFamⁱ	TF313225

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd02621 Peptidase_C1A_CathepsinC, 1 hit
Gene3Dⁱ	2.40.128.80, 1 hit
InterProⁱ	View protein in InterPro IPR039412 CatC IPR014882 CathepsinC_exc IPR036496 CathepsinC_exc_dom_sf IPR038765 Papain-like_cys_pep_sf IPR025661 Pept_asp_AS IPR000169 Pept_cys_AS IPR025660 Pept_his_AS IPR000668 Peptidase_C1A_C
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF08773 CathepsinC_exc, 1 hit PF00112 Peptidase_C1, 1 hit
PRINTSⁱ	PR00705 PAPAIN
SMARTⁱ	View protein in SMART SM00645 Pept_C1, 1 hit
SUPFAMⁱ	SSF54001 SSF54001, 1 hit SSF75001 SSF75001, 1 hit
PROSITEⁱ	View protein in PROSITE PS00640 THIOL_PROTEASE_ASN, 1 hit PS00139 THIOL_PROTEASE_CYS, 1 hit PS00639 THIOL_PROTEASE_HIS, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P53634-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR 
        60         70         80         90        100
DVNCSVMGPQ EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK 
       110        120        130        140        150
WFAFFKYKEE GSKVTTYCNE TMTGWVHDVL GRNWACFTGK KVGTASENVY 
       160        170        180        190        200
VNIAHLKNSQ EKYSNRLYKY DHNFVKAINA IQKSWTATTY MEYETLTLGD 
       210        220        230        240        250
MIRRSGGHSR KIPRPKPAPL TAEIQQKILH LPTSWDWRNV HGINFVSPVR 
       260        270        280        290        300
NQASCGSCYS FASMGMLEAR IRILTNNSQT PILSPQEVVS CSQYAQGCEG 
       310        320        330        340        350
GFPYLIAGKY AQDFGLVEEA CFPYTGTDSP CKMKEDCFRY YSSEYHYVGG 
       360        370        380        390        400
FYGGCNEALM KLELVHHGPM AVAFEVYDDF LHYKKGIYHH TGLRDPFNPF 
       410        420        430        440        450
ELTNHAVLLV GYGTDSASGM DYWIVKNSWG TGWGENGYFR IRRGTDECAI 
       460 
ESIAVAATPI PKL

Length:463

Mass (Da):51,854

Last modified:January 11, 2011 - v2

Checksum:ⁱ4C9C7C24D900CEE6

GO

Isoform 2 (identifier: P53634-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
107-137: YKEEGSKVTTYCNETMTGWVHDVLGRNWACF → DVTDFISHLFMQLGTVGIYDLPHLRNKLVIK
138-463: Missing.

« Hide

        10         20         30         40         50
MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR 
        60         70         80         90        100
DVNCSVMGPQ EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK 
       110        120        130 
WFAFFKDVTD FISHLFMQLG TVGIYDLPHL RNKLVIK

Show »

Length:137

Mass (Da):15,169

Checksum:ⁱC68FC076FCB30601

GO

Isoform 3 (identifier: P53634-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
107-141: YKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKK → DVTDFISHLFMQLGTVGIYDLPHLRNKLAMNRRWG
142-463: Missing.

« Hide

        10         20         30         40         50
MGAGPSLLLA ALLLLLSGDG AVRCDTPANC TYLDLLGTWV FQVGSSGSQR 
        60         70         80         90        100
DVNCSVMGPQ EKKVVVYLQK LDTAYDDLGN SGHFTIIYNQ GFEIVLNDYK 
       110        120        130        140 
WFAFFKDVTD FISHLFMQLG TVGIYDLPHL RNKLAMNRRW G

Show »

Length:141

Mass (Da):15,700

Checksum:ⁱFAD4B1B511F91F66

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YCY8	H0YCY8_HUMAN	Dipeptidyl peptidase 1 Dipeptidyl peptidase 1	CTSC	244	Annotation score:
H0YDA2	H0YDA2_HUMAN	Dipeptidyl peptidase 1 Dipeptidyl peptidase 1	CTSC	36	Annotation score:

Sequence cautionⁱ

The sequence CAD97897 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	63	K → I in BAD96758 (Ref. 6) Curated	1
Sequence conflictⁱ	237	W → V AA sequence (PubMed:1586157).Curated	1
Sequence conflictⁱ	321	C → S AA sequence (PubMed:1586157).Curated	1
Sequence conflictⁱ	355	C → M AA sequence (PubMed:1586157).Curated	1
Sequence conflictⁱ	366	H → R AA sequence (PubMed:1586157).Curated	1
Sequence conflictⁱ	376 – 378	VYD → YVY AA sequence (PubMed:1586157).Curated	3

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_016933	39	W → S in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894210Ensembl.	1
Natural variantⁱVAR_019035	67 – 74	Missing in PLS. 1 Publication	8
Natural variantⁱVAR_016934	127	H → P in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894216Ensembl.	1
Natural variantⁱVAR_019036	129	V → E in PLS. 1 PublicationCorresponds to variant dbSNP:rs760130711Ensembl.	1
Natural variantⁱVAR_019037	139	G → R in PLS. 2 PublicationsCorresponds to variant dbSNP:rs749103588Ensembl.	1
Natural variantⁱVAR_016943	153	I → T12 PublicationsCorresponds to variant dbSNP:rs217086EnsemblClinVar.	1
Natural variantⁱVAR_019038	236	D → Y in PLS. 2 PublicationsCorresponds to variant dbSNP:rs764724707Ensembl.	1
Natural variantⁱVAR_009541	249	V → F in PLS. 2 Publications	1
Natural variantⁱVAR_009542	252	Q → L in PLS. 2 PublicationsCorresponds to variant dbSNP:rs104894207EnsemblClinVar.	1
Natural variantⁱVAR_019039	272	R → H in PLS. 1 PublicationCorresponds to variant dbSNP:rs587777534EnsemblClinVar.	1
Natural variantⁱVAR_009543	272	R → P in PLS. 5 PublicationsCorresponds to variant dbSNP:rs587777534EnsemblClinVar.	1
Natural variantⁱVAR_016935	286	Q → R in HMS and PLS. 2 PublicationsCorresponds to variant dbSNP:rs104894208EnsemblClinVar.	1
Natural variantⁱVAR_019040	291	C → Y in PLS. 1 PublicationCorresponds to variant dbSNP:rs748729285EnsemblClinVar.	1
Natural variantⁱVAR_039686	294	Y → H in PLS. 1 Publication	1
Natural variantⁱVAR_019041	300	G → D in PLS. 2 Publications	1
Natural variantⁱVAR_019042	300	G → S in PLS. 1 Publication	1
Natural variantⁱVAR_009544	301	G → S in PLS. 4 PublicationsCorresponds to variant dbSNP:rs104894214Ensembl.	1
Natural variantⁱVAR_019043	301	G → V in PLS. 1 Publication	1
Natural variantⁱVAR_019044	304	Y → N in PLS. 1 Publication	1
Natural variantⁱVAR_019045	312	Q → R in PLS. 1 PublicationCorresponds to variant dbSNP:rs1484758757Ensembl.	1
Natural variantⁱVAR_019046	319	E → G in PLS. 1 PublicationCorresponds to variant dbSNP:rs1294233227Ensembl.	1
Natural variantⁱVAR_009545	339	R → C in PLS. 5 PublicationsCorresponds to variant dbSNP:rs1044703733Ensembl.	1
Natural variantⁱVAR_016944	340	Y → C in PLS. 2 Publications	1
Natural variantⁱVAR_009546	347	Y → C in PLS and AP1. 3 PublicationsCorresponds to variant dbSNP:rs104894211EnsemblClinVar.	1
Natural variantⁱVAR_016945	401	E → K1 PublicationCorresponds to variant dbSNP:rs200627023Ensembl.	1
Natural variantⁱVAR_027249	405	H → N in PLS. 1 Publication	1
Natural variantⁱVAR_027250	405	H → R in PLS. 1 PublicationCorresponds to variant dbSNP:rs151269219Ensembl.	1
Natural variantⁱVAR_019047	412	Y → C in AP1. 1 PublicationCorresponds to variant dbSNP:rs28937571EnsemblClinVar.	1
Natural variantⁱVAR_016936	429	W → C in PLS. 1 PublicationCorresponds to variant dbSNP:rs104894215Ensembl.	1
Natural variantⁱVAR_019048	447	E → G in PLS. 2 Publications	1
Natural variantⁱVAR_016946	453	I → V Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs3888798EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_043232	107 – 141	YKEEG…FTGKK → DVTDFISHLFMQLGTVGIYD LPHLRNKLAMNRRWG in isoform 3. 1 PublicationAdd BLAST	35
Alternative sequenceⁱVSP_039123	107 – 137	YKEEG…NWACF → DVTDFISHLFMQLGTVGIYD LPHLRNKLVIK in isoform 2. 3 PublicationsAdd BLAST	31
Alternative sequenceⁱVSP_039124	138 – 463	Missing in isoform 2. 3 PublicationsAdd BLAST	326
Alternative sequenceⁱVSP_043233	142 – 463	Missing in isoform 3. 1 PublicationAdd BLAST	322

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X87212 mRNA Translation: CAA60671.1 U79415 Genomic DNA Translation: AAC51341.1 AF234263 mRNA Translation: AAL48191.1 AF234264 mRNA Translation: AAL48192.1 AF254757 mRNA Translation: AAL48195.1 AF525032 mRNA Translation: AAQ08887.1 AF525033 mRNA Translation: AAQ08888.1 AK292117 mRNA Translation: BAF84806.1 AK311923 mRNA Translation: BAG34864.1 AK223038 mRNA Translation: BAD96758.1 BX537913 mRNA Translation: CAD97897.1 Different initiation. AC011088 Genomic DNA No translation available. CH471185 Genomic DNA Translation: EAW59364.1 BC054028 mRNA Translation: AAH54028.1 BC100891 mRNA Translation: AAI00892.1 BC100892 mRNA Translation: AAI00893.1 BC100893 mRNA Translation: AAI00894.1 BC100894 mRNA Translation: AAI00895.1 BC109386 mRNA Translation: AAI09387.1 BC110071 mRNA Translation: AAI10072.1 BC113850 mRNA Translation: AAI13851.1 BC113897 mRNA Translation: AAI13898.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS31654.1 [P53634-2] CCDS44693.1 [P53634-3] CCDS8282.1 [P53634-1]
PIRⁱ	S23941 S66504
NCBI Reference Sequences More...RefSeqⁱ	NP_001107645.1, NM_001114173.2 [P53634-3] NP_001805.3, NM_001814.5 [P53634-1] NP_680475.1, NM_148170.4 [P53634-2]

Genome annotation databases

Ensemblⁱ	ENST00000227266; ENSP00000227266; ENSG00000109861 [P53634-1] ENST00000524463; ENSP00000432541; ENSG00000109861 [P53634-2] ENST00000529974; ENSP00000433539; ENSG00000109861 [P53634-3]
GeneIDⁱ	1075
KEGGⁱ	hsa:1075
UCSC genome browser More...UCSCⁱ	uc001pck.5 human [P53634-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P53634	Dipeptidyl peptidase 1 isoform a preproprotein (Fragment)		HUMAN		48	UniRef100_P53634
UPI0010A1F84C				162
UPI00042DB4CF		HUMAN		165
UPI00042DB4B5		HUMAN		120
UPI000011326C		HUMAN		69
+3

Protein	Similar proteins		Species	Score	Length	Source
P53634	Dipeptidyl peptidase 1		PONAB		463	UniRef90_P53634
Dipeptidyl peptidase 1		MACFA		463
Dipeptidyl peptidase 1 isoform a preproprotein (Fragment)		HUMAN		48
Cathepsin C		MACMU		463
Cathepsin C		COLAP		463
+46
P53634-2	Isoform 3 of Dipeptidyl peptidase 1		HUMAN		141	UniRef90_P53634-3
CTSC isoform 7		PANTR		141
Cathepsin C		GORGO		141
CTSC isoform 8 (Fragment)		PONAB		35
Cathepsin C		COLAP		141
+42

Protein	Similar proteins		Species	Score	Length	Source
P53634	Dipeptidyl peptidase 1		PONAB		463	UniRef50_P53634
Dipeptidyl peptidase 1		MACFA		463
Dipeptidyl peptidase 1 isoform a preproprotein (Fragment)		HUMAN		48
Cathepsin C		MACNE		463
CTSC isoform 1		PANTR		463
+111
P53634-2	Isoform 3 of Dipeptidyl peptidase 1		HUMAN		141	UniRef50_P53634-3
CTSC isoform 7		PANTR		141
Cathepsin C		GORGO		141
CTSC isoform 8 (Fragment)		PONAB		35
Cathepsin C		Cebus capucinus imitator		141
+165

Cross-referencesⁱ

Web resourcesⁱ

CTSCbase

CTSC mutation db

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X87212 mRNA Translation: CAA60671.1 U79415 Genomic DNA Translation: AAC51341.1 AF234263 mRNA Translation: AAL48191.1 AF234264 mRNA Translation: AAL48192.1 AF254757 mRNA Translation: AAL48195.1 AF525032 mRNA Translation: AAQ08887.1 AF525033 mRNA Translation: AAQ08888.1 AK292117 mRNA Translation: BAF84806.1 AK311923 mRNA Translation: BAG34864.1 AK223038 mRNA Translation: BAD96758.1 BX537913 mRNA Translation: CAD97897.1 Different initiation. AC011088 Genomic DNA No translation available. CH471185 Genomic DNA Translation: EAW59364.1 BC054028 mRNA Translation: AAH54028.1 BC100891 mRNA Translation: AAI00892.1 BC100892 mRNA Translation: AAI00893.1 BC100893 mRNA Translation: AAI00894.1 BC100894 mRNA Translation: AAI00895.1 BC109386 mRNA Translation: AAI09387.1 BC110071 mRNA Translation: AAI10072.1 BC113850 mRNA Translation: AAI13851.1 BC113897 mRNA Translation: AAI13898.1
CCDSⁱ	CCDS31654.1 [P53634-2] CCDS44693.1 [P53634-3] CCDS8282.1 [P53634-1]
PIRⁱ	S23941 S66504
RefSeqⁱ	NP_001107645.1, NM_001114173.2 [P53634-3] NP_001805.3, NM_001814.5 [P53634-1] NP_680475.1, NM_148170.4 [P53634-2]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1K3B	X-ray	2.15	A	25-143	[»]
				B	231-394	[»]
				C	395-463	[»]
	2DJF	X-ray	2.00	A	25-143	[»]
				B	231-394	[»]
				C	395-463	[»]
	2DJG	X-ray	2.05	A	25-143	[»]
				B	231-394	[»]
				C	395-463	[»]
	3PDF	X-ray	1.85	A	25-463	[»]
	4CDC	X-ray	2.40	A/D/G/J	25-143	[»]
				B/E/H/K	230-394	[»]
				C/F/I/L	395-463	[»]
	4CDD	X-ray	2.35	A/D	25-144	[»]
				B/E	230-394	[»]
				C/F	395-463	[»]
	4CDE	X-ray	2.40	A/D	25-143	[»]
				B/E	230-394	[»]
				C/F	395-463	[»]
	4CDF	X-ray	2.20	A/D	25-144	[»]
				B/E	229-394	[»]
				C/F	395-463	[»]
	4OEL	X-ray	1.40	A	25-394	[»]
				B	395-463	[»]
	4OEM	X-ray	1.52	A	25-394	[»]
				B	395-463	[»]
SMRⁱ	P53634
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107502, 26 interactors
IntActⁱ	P53634, 23 interactors
MINTⁱ	P53634
STRINGⁱ	9606.ENSP00000227266

Chemistry databases

BindingDBⁱ	P53634
ChEMBLⁱ	CHEMBL2252
GuidetoPHARMACOLOGYⁱ	2344

Protein family/group databases

MEROPSⁱ	C01.070

MEROPSⁱ

C01.070

PTM databases

GlyConnectⁱ	1175
iPTMnetⁱ	P53634
PhosphoSitePlusⁱ	P53634
SwissPalmⁱ	P53634

Polymorphism and mutation databases

BioMutaⁱ	CTSC
DMDMⁱ	317373330

Proteomic databases

EPDⁱ	P53634
jPOSTⁱ	P53634
MassIVEⁱ	P53634
MaxQBⁱ	P53634
PaxDbⁱ	P53634
PeptideAtlasⁱ	P53634
PRIDEⁱ	P53634
ProteomicsDBⁱ	56595 [P53634-1] 56596 [P53634-2] 56597 [P53634-3]
TopDownProteomicsⁱ	P53634-1 [P53634-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	1075

DNASUⁱ

1075

Genome annotation databases

Ensemblⁱ	ENST00000227266; ENSP00000227266; ENSG00000109861 [P53634-1] ENST00000524463; ENSP00000432541; ENSG00000109861 [P53634-2] ENST00000529974; ENSP00000433539; ENSG00000109861 [P53634-3]
GeneIDⁱ	1075
KEGGⁱ	hsa:1075
UCSCⁱ	uc001pck.5 human [P53634-1]

Organism-specific databases

CTDⁱ	1075
DisGeNETⁱ	1075
EuPathDBⁱ	HostDB:ENSG00000109861.15
GeneCardsⁱ	CTSC
HGNCⁱ	HGNC:2528 CTSC
HPAⁱ	CAB025364 HPA066610 HPA068434
MalaCardsⁱ	CTSC
MIMⁱ	170650 phenotype 245000 phenotype 245010 phenotype 602365 gene
neXtProtⁱ	NX_P53634
OpenTargetsⁱ	ENSG00000109861
Orphanetⁱ	2342 Haim-Munk syndrome 678 Papillon-Lefevre syndrome
PharmGKBⁱ	PA27028
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1543 Eukaryota COG4870 LUCA
GeneTreeⁱ	ENSGT00940000155787
HOGENOMⁱ	HOG000127503
InParanoidⁱ	P53634
KOⁱ	K01275
OMAⁱ	HYQNGIY
OrthoDBⁱ	1541140at2759
PhylomeDBⁱ	P53634
TreeFamⁱ	TF313225

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS03265-MONOMER
BRENDAⁱ	3.4.14.1 2681
Reactomeⁱ	R-HSA-204005 COPII-mediated vesicle transport R-HSA-2132295 MHC class II antigen presentation R-HSA-5694530 Cargo concentration in the ER R-HSA-6798695 Neutrophil degranulation
SABIO-RKⁱ	P53634

Miscellaneous databases

ChiTaRSⁱ	CTSC human
EvolutionaryTraceⁱ	P53634
GeneWikiⁱ	Cathepsin_C
GenomeRNAiⁱ	1075
Pharosⁱ	P53634 Tchem
Protein Ontology More...PROⁱ	PR:P53634
RNActⁱ	P53634 protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000109861 Expressed in 221 organ(s), highest expression level in palpebral conjunctiva
ExpressionAtlasⁱ	P53634 baseline and differential
Genevisibleⁱ	P53634 HS

Family and domain databases

CDDⁱ	cd02621 Peptidase_C1A_CathepsinC, 1 hit
Gene3Dⁱ	2.40.128.80, 1 hit
InterProⁱ	View protein in InterPro IPR039412 CatC IPR014882 CathepsinC_exc IPR036496 CathepsinC_exc_dom_sf IPR038765 Papain-like_cys_pep_sf IPR025661 Pept_asp_AS IPR000169 Pept_cys_AS IPR025660 Pept_his_AS IPR000668 Peptidase_C1A_C
Pfamⁱ	View protein in Pfam PF08773 CathepsinC_exc, 1 hit PF00112 Peptidase_C1, 1 hit
PRINTSⁱ	PR00705 PAPAIN
SMARTⁱ	View protein in SMART SM00645 Pept_C1, 1 hit
SUPFAMⁱ	SSF54001 SSF54001, 1 hit SSF75001 SSF75001, 1 hit
PROSITEⁱ	View protein in PROSITE PS00640 THIOL_PROTEASE_ASN, 1 hit PS00139 THIOL_PROTEASE_CYS, 1 hit PS00639 THIOL_PROTEASE_HIS, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CATC_HUMAN
Accessionⁱ	P53634Primary (citable) accession number: P53634 Secondary accession number(s): A8K7V2 Q8WYA8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
	Last sequence update:	January 11, 2011
	Last modified:	December 11, 2019
	This is version 203 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Direct protein sequencing, Reference proteome

Documents

PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Peptidase families
Classification of peptidase families and list of entries

UniProtKB

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Supporting data

UniProtKB - P53634 (CATC_HUMAN)

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Dipeptidyl peptidase 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

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<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Lysosome

Cytoskeleton

Endoplasmic reticulum

Extracellular region or secreted

Golgi apparatus

Lysosome

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

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Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

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Functionⁱ

Catalytic activityⁱ

pH dependenceⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ