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Protein

Dipeptidyl peptidase 1

Gene

CTSC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

Cofactori

chlorideNote: Binds 1 Cl- ion per heavy chain.

Enzyme 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei258 – 2581
Binding sitei302 – 3021Chloride
Binding sitei304 – 3041Chloride; via amide nitrogen
Binding sitei347 – 3471Chloride
Active sitei405 – 4051
Active sitei427 – 4271

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • chloride ion binding Source: Ensembl
  • cysteine-type endopeptidase activity Source: GO_Central
  • cysteine-type peptidase activity Source: UniProtKB
  • peptidase activator activity involved in apoptotic process Source: Ensembl
  • phosphatase binding Source: BHF-UCL
  • serine-type endopeptidase activity Source: Ensembl

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Thiol protease

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciMetaCyc:HS03265-MONOMER.
BRENDAi3.4.14.1. 2681.
ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-2132295. MHC class II antigen presentation.
R-HSA-5694530. Cargo concentration in the ER.
SABIO-RKP53634.

Protein family/group databases

MEROPSiC01.070.

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:
Alternative name(s):
Dipeptidyl peptidase I exclusion domain chain
Alternative name(s):
Dipeptidyl peptidase I heavy chain
Alternative name(s):
Dipeptidyl peptidase I light chain
Gene namesi
Name:CTSC
Synonyms:CPPI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2528. CTSC.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
  • endoplasmic reticulum lumen Source: Reactome
  • ER to Golgi transport vesicle Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • Golgi membrane Source: GOC
  • lysosome Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

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.
See also OMIM:245000
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391W → S in PLS. 1 Publication
Corresponds to variant rs104894210 [ dbSNP | Ensembl ].
VAR_016933
Natural varianti67 – 748Missing in PLS. 1 Publication
VAR_019035
Natural varianti127 – 1271H → P in PLS. 1 Publication
Corresponds to variant rs104894216 [ dbSNP | Ensembl ].
VAR_016934
Natural varianti129 – 1291V → E in PLS. 1 Publication
Corresponds to variant rs760130711 [ dbSNP | Ensembl ].
VAR_019036
Natural varianti139 – 1391G → R in PLS. 2 Publications
Corresponds to variant rs749103588 [ dbSNP | Ensembl ].
VAR_019037
Natural varianti236 – 2361D → Y in PLS. 2 Publications
Corresponds to variant rs764724707 [ dbSNP | Ensembl ].
VAR_019038
Natural varianti249 – 2491V → F in PLS. 2 Publications
VAR_009541
Natural varianti252 – 2521Q → L in PLS. 2 Publications
Corresponds to variant rs104894207 [ dbSNP | Ensembl ].
VAR_009542
Natural varianti272 – 2721R → H in PLS. 1 Publication
Corresponds to variant rs587777534 [ dbSNP | Ensembl ].
VAR_019039
Natural varianti272 – 2721R → P in PLS. 5 Publications
Corresponds to variant rs587777534 [ dbSNP | Ensembl ].
VAR_009543
Natural varianti286 – 2861Q → R in HMS and PLS. 2 Publications
Corresponds to variant rs104894208 [ dbSNP | Ensembl ].
VAR_016935
Natural varianti291 – 2911C → Y in PLS. 1 Publication
Corresponds to variant rs748729285 [ dbSNP | Ensembl ].
VAR_019040
Natural varianti294 – 2941Y → H in PLS. 1 Publication
VAR_039686
Natural varianti300 – 3001G → D in PLS. 2 Publications
VAR_019041
Natural varianti300 – 3001G → S in PLS. 1 Publication
VAR_019042
Natural varianti301 – 3011G → S in PLS. 4 Publications
Corresponds to variant rs104894214 [ dbSNP | Ensembl ].
VAR_009544
Natural varianti301 – 3011G → V in PLS. 1 Publication
VAR_019043
Natural varianti304 – 3041Y → N in PLS. 1 Publication
VAR_019044
Natural varianti312 – 3121Q → R in PLS. 1 Publication
VAR_019045
Natural varianti319 – 3191E → G in PLS. 1 Publication
VAR_019046
Natural varianti339 – 3391R → C in PLS. 5 Publications
VAR_009545
Natural varianti340 – 3401Y → C in PLS. 2 Publications
VAR_016944
Natural varianti347 – 3471Y → C in PLS and AP1. 3 Publications
Corresponds to variant rs104894211 [ dbSNP | Ensembl ].
VAR_009546
Natural varianti405 – 4051H → N in PLS. 1 Publication
VAR_027249
Natural varianti405 – 4051H → R in PLS. 1 Publication
Corresponds to variant rs151269219 [ dbSNP | Ensembl ].
VAR_027250
Natural varianti429 – 4291W → C in PLS. 1 Publication
Corresponds to variant rs104894215 [ dbSNP | Ensembl ].
VAR_016936
Natural varianti447 – 4471E → G in PLS. 2 Publications
VAR_019048
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.
See also OMIM:245010
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti286 – 2861Q → R in HMS and PLS. 2 Publications
Corresponds to variant rs104894208 [ dbSNP | Ensembl ].
VAR_016935
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.
See also OMIM:170650
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti347 – 3471Y → C in PLS and AP1. 3 Publications
Corresponds to variant rs104894211 [ dbSNP | Ensembl ].
VAR_009546
Natural varianti412 – 4121Y → C in AP1. 1 Publication
Corresponds to variant rs28937571 [ dbSNP | Ensembl ].
VAR_019047

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MalaCardsiCTSC.
MIMi170650. phenotype.
245000. phenotype.
245010. phenotype.
Orphaneti2342. Haim-Munk syndrome.
678. Papillon-Lefevre syndrome.
PharmGKBiPA27028.

Chemistry

ChEMBLiCHEMBL2252.
GuidetoPHARMACOLOGYi2344.

Polymorphism and mutation databases

BioMutaiCTSC.
DMDMi317373330.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 24243 PublicationsAdd
BLAST
Chaini25 – 134110Dipeptidyl peptidase 1 exclusion domain chainPRO_0000026338Add
BLAST
Propeptidei135 – 230963 PublicationsPRO_0000026339Add
BLAST
Chaini231 – 394164Dipeptidyl peptidase 1 heavy chainPRO_0000026340Add
BLAST
Chaini395 – 46369Dipeptidyl peptidase 1 light chainPRO_0000026341Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi29 – 291N-linked (GlcNAc...)2 Publications
Disulfide bondi30 ↔ 118
Glycosylationi53 – 531N-linked (GlcNAc...)2 Publications
Disulfide bondi54 ↔ 136
Glycosylationi119 – 1191N-linked (GlcNAc...)1 Publication
Disulfide bondi255 ↔ 298
Glycosylationi276 – 2761N-linked (GlcNAc...)1 Publication
Disulfide bondi291 ↔ 331
Disulfide bondi321 ↔ 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

EPDiP53634.
MaxQBiP53634.
PaxDbiP53634.
PeptideAtlasiP53634.
PRIDEiP53634.
TopDownProteomicsiP53634-1. [P53634-1]

PTM databases

iPTMnetiP53634.
PhosphoSiteiP53634.
SwissPalmiP53634.

Miscellaneous databases

PMAP-CutDBP53634.

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

BgeeiENSG00000109861.
ExpressionAtlasiP53634. baseline and differential.
GenevisibleiP53634. HS.

Organism-specific databases

HPAiCAB025364.

Interactioni

Subunit structurei

Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CST7O760962EBI-1047323,EBI-2807448

GO - Molecular functioni

  • chaperone binding Source: BHF-UCL
  • phosphatase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107502. 24 interactions.
IntActiP53634. 22 interactions.
MINTiMINT-4655964.
STRINGi9606.ENSP00000227266.

Chemistry

BindingDBiP53634.

Structurei

Secondary structure

1
463
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi32 – 354Combined sources
Beta strandi37 – 4812Combined sources
Turni49 – 513Combined sources
Helixi54 – 563Combined sources
Beta strandi60 – 6910Combined sources
Turni70 – 723Combined sources
Beta strandi73 – 753Combined sources
Beta strandi81 – 877Combined sources
Turni88 – 903Combined sources
Beta strandi91 – 966Combined sources
Beta strandi99 – 11012Combined sources
Beta strandi113 – 1219Combined sources
Beta strandi123 – 1286Combined sources
Beta strandi133 – 1419Combined sources
Beta strandi254 – 2563Combined sources
Helixi258 – 27417Combined sources
Turni275 – 2773Combined sources
Helixi285 – 2917Combined sources
Helixi297 – 2993Combined sources
Helixi303 – 3064Combined sources
Helixi309 – 3135Combined sources
Helixi319 – 3213Combined sources
Beta strandi342 – 3476Combined sources
Helixi357 – 36711Combined sources
Beta strandi370 – 3745Combined sources
Helixi378 – 3825Combined sources
Beta strandi385 – 3884Combined sources
Beta strandi405 – 41410Combined sources
Turni416 – 4183Combined sources
Beta strandi421 – 4266Combined sources
Beta strandi431 – 4333Combined sources
Beta strandi438 – 4425Combined sources
Turni443 – 4464Combined sources
Helixi447 – 4493Combined sources
Beta strandi455 – 4595Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1K3BX-ray2.15A25-143[»]
B231-394[»]
C395-463[»]
2DJFX-ray2.00A25-143[»]
B231-394[»]
C395-463[»]
2DJGX-ray2.05A25-143[»]
B231-394[»]
C395-463[»]
3PDFX-ray1.85A25-463[»]
4CDCX-ray2.40A/D/G/J25-143[»]
B/E/H/K230-394[»]
C/F/I/L395-463[»]
4CDDX-ray2.35A/D25-144[»]
B/E230-394[»]
C/F395-463[»]
4CDEX-ray2.40A/D25-143[»]
B/E230-394[»]
C/F395-463[»]
4CDFX-ray2.20A/D25-144[»]
B/E229-394[»]
C/F395-463[»]
4OELX-ray1.40A25-394[»]
B395-463[»]
4OEMX-ray1.52A25-394[»]
B395-463[»]
ProteinModelPortaliP53634.
SMRiP53634. Positions 25-142, 174-463.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP53634.

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase C1 family.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1543. Eukaryota.
COG4870. LUCA.
GeneTreeiENSGT00760000118871.
HOGENOMiHOG000127503.
HOVERGENiHBG005248.
InParanoidiP53634.
KOiK01275.
OMAiYDDFLHY.
OrthoDBiEOG091G06TT.
PhylomeDBiP53634.
TreeFamiTF313225.

Family and domain databases

Gene3Di2.40.128.80. 1 hit.
InterProiIPR014882. CathepsinC_exc.
IPR033161. DPP_I.
IPR025661. Pept_asp_AS.
IPR000169. Pept_cys_AS.
IPR025660. Pept_his_AS.
IPR013128. Peptidase_C1A.
IPR000668. Peptidase_C1A_C.
[Graphical view]
PANTHERiPTHR12411. PTHR12411. 1 hit.
PTHR12411:SF354. PTHR12411:SF354. 1 hit.
PfamiPF08773. CathepsinC_exc. 1 hit.
PF00112. Peptidase_C1. 1 hit.
[Graphical view]
PRINTSiPR00705. PAPAIN.
SMARTiSM00645. Pept_C1. 1 hit.
[Graphical view]
SUPFAMiSSF75001. SSF75001. 1 hit.
PROSITEiPS00640. THIOL_PROTEASE_ASN. 1 hit.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
PS00639. THIOL_PROTEASE_HIS. 1 hit.
[Graphical view]

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. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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]FASTAAdd to basket

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

Show »
Length:137
Mass (Da):15,169
Checksum:iC68FC076FCB30601
GO
Isoform 3 (identifier: P53634-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:141
Mass (Da):15,700
Checksum:iFAD4B1B511F91F66
GO

Sequence cautioni

The sequence CAD97897 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti63 – 631K → I in BAD96758 (Ref. 6) Curated
Sequence conflicti237 – 2371W → V AA sequence (PubMed:1586157).Curated
Sequence conflicti321 – 3211C → S AA sequence (PubMed:1586157).Curated
Sequence conflicti355 – 3551C → M AA sequence (PubMed:1586157).Curated
Sequence conflicti366 – 3661H → R AA sequence (PubMed:1586157).Curated
Sequence conflicti376 – 3783VYD → YVY AA sequence (PubMed:1586157).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391W → S in PLS. 1 Publication
Corresponds to variant rs104894210 [ dbSNP | Ensembl ].
VAR_016933
Natural varianti67 – 748Missing in PLS. 1 Publication
VAR_019035
Natural varianti127 – 1271H → P in PLS. 1 Publication
Corresponds to variant rs104894216 [ dbSNP | Ensembl ].
VAR_016934
Natural varianti129 – 1291V → E in PLS. 1 Publication
Corresponds to variant rs760130711 [ dbSNP | Ensembl ].
VAR_019036
Natural varianti139 – 1391G → R in PLS. 2 Publications
Corresponds to variant rs749103588 [ dbSNP | Ensembl ].
VAR_019037
Natural varianti153 – 1531I → T.12 Publications
Corresponds to variant rs217086 [ dbSNP | Ensembl ].
VAR_016943
Natural varianti236 – 2361D → Y in PLS. 2 Publications
Corresponds to variant rs764724707 [ dbSNP | Ensembl ].
VAR_019038
Natural varianti249 – 2491V → F in PLS. 2 Publications
VAR_009541
Natural varianti252 – 2521Q → L in PLS. 2 Publications
Corresponds to variant rs104894207 [ dbSNP | Ensembl ].
VAR_009542
Natural varianti272 – 2721R → H in PLS. 1 Publication
Corresponds to variant rs587777534 [ dbSNP | Ensembl ].
VAR_019039
Natural varianti272 – 2721R → P in PLS. 5 Publications
Corresponds to variant rs587777534 [ dbSNP | Ensembl ].
VAR_009543
Natural varianti286 – 2861Q → R in HMS and PLS. 2 Publications
Corresponds to variant rs104894208 [ dbSNP | Ensembl ].
VAR_016935
Natural varianti291 – 2911C → Y in PLS. 1 Publication
Corresponds to variant rs748729285 [ dbSNP | Ensembl ].
VAR_019040
Natural varianti294 – 2941Y → H in PLS. 1 Publication
VAR_039686
Natural varianti300 – 3001G → D in PLS. 2 Publications
VAR_019041
Natural varianti300 – 3001G → S in PLS. 1 Publication
VAR_019042
Natural varianti301 – 3011G → S in PLS. 4 Publications
Corresponds to variant rs104894214 [ dbSNP | Ensembl ].
VAR_009544
Natural varianti301 – 3011G → V in PLS. 1 Publication
VAR_019043
Natural varianti304 – 3041Y → N in PLS. 1 Publication
VAR_019044
Natural varianti312 – 3121Q → R in PLS. 1 Publication
VAR_019045
Natural varianti319 – 3191E → G in PLS. 1 Publication
VAR_019046
Natural varianti339 – 3391R → C in PLS. 5 Publications
VAR_009545
Natural varianti340 – 3401Y → C in PLS. 2 Publications
VAR_016944
Natural varianti347 – 3471Y → C in PLS and AP1. 3 Publications
Corresponds to variant rs104894211 [ dbSNP | Ensembl ].
VAR_009546
Natural varianti401 – 4011E → K.1 Publication
Corresponds to variant rs200627023 [ dbSNP | Ensembl ].
VAR_016945
Natural varianti405 – 4051H → N in PLS. 1 Publication
VAR_027249
Natural varianti405 – 4051H → R in PLS. 1 Publication
Corresponds to variant rs151269219 [ dbSNP | Ensembl ].
VAR_027250
Natural varianti412 – 4121Y → C in AP1. 1 Publication
Corresponds to variant rs28937571 [ dbSNP | Ensembl ].
VAR_019047
Natural varianti429 – 4291W → C in PLS. 1 Publication
Corresponds to variant rs104894215 [ dbSNP | Ensembl ].
VAR_016936
Natural varianti447 – 4471E → G in PLS. 2 Publications
VAR_019048
Natural varianti453 – 4531I → V Rare polymorphism. 1 Publication
Corresponds to variant rs3888798 [ dbSNP | Ensembl ].
VAR_016946

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei107 – 14135YKEEG…FTGKK → DVTDFISHLFMQLGTVGIYD LPHLRNKLAMNRRWG in isoform 3. 1 PublicationVSP_043232Add
BLAST
Alternative sequencei107 – 13731YKEEG…NWACF → DVTDFISHLFMQLGTVGIYD LPHLRNKLVIK in isoform 2. 3 PublicationsVSP_039123Add
BLAST
Alternative sequencei138 – 463326Missing in isoform 2. 3 PublicationsVSP_039124Add
BLAST
Alternative sequencei142 – 463322Missing in isoform 3. 1 PublicationVSP_043233Add
BLAST

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.
CCDSiCCDS31654.1. [P53634-2]
CCDS44693.1. [P53634-3]
CCDS8282.1. [P53634-1]
PIRiS23941.
S66504.
RefSeqiNP_001107645.1. NM_001114173.2. [P53634-3]
NP_001805.3. NM_001814.5.
NP_680475.1. NM_148170.4. [P53634-2]
UniGeneiHs.128065.

Genome annotation databases

EnsembliENST00000227266; ENSP00000227266; ENSG00000109861. [P53634-1]
ENST00000524463; ENSP00000432541; ENSG00000109861. [P53634-2]
ENST00000529974; ENSP00000433539; ENSG00000109861. [P53634-3]
GeneIDi1075.
KEGGihsa:1075.
UCSCiuc001pck.5. human. [P53634-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS31654.1. [P53634-2]
CCDS44693.1. [P53634-3]
CCDS8282.1. [P53634-1]
PIRiS23941.
S66504.
RefSeqiNP_001107645.1. NM_001114173.2. [P53634-3]
NP_001805.3. NM_001814.5.
NP_680475.1. NM_148170.4. [P53634-2]
UniGeneiHs.128065.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1K3BX-ray2.15A25-143[»]
B231-394[»]
C395-463[»]
2DJFX-ray2.00A25-143[»]
B231-394[»]
C395-463[»]
2DJGX-ray2.05A25-143[»]
B231-394[»]
C395-463[»]
3PDFX-ray1.85A25-463[»]
4CDCX-ray2.40A/D/G/J25-143[»]
B/E/H/K230-394[»]
C/F/I/L395-463[»]
4CDDX-ray2.35A/D25-144[»]
B/E230-394[»]
C/F395-463[»]
4CDEX-ray2.40A/D25-143[»]
B/E230-394[»]
C/F395-463[»]
4CDFX-ray2.20A/D25-144[»]
B/E229-394[»]
C/F395-463[»]
4OELX-ray1.40A25-394[»]
B395-463[»]
4OEMX-ray1.52A25-394[»]
B395-463[»]
ProteinModelPortaliP53634.
SMRiP53634. Positions 25-142, 174-463.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107502. 24 interactions.
IntActiP53634. 22 interactions.
MINTiMINT-4655964.
STRINGi9606.ENSP00000227266.

Chemistry

BindingDBiP53634.
ChEMBLiCHEMBL2252.
GuidetoPHARMACOLOGYi2344.

Protein family/group databases

MEROPSiC01.070.

PTM databases

iPTMnetiP53634.
PhosphoSiteiP53634.
SwissPalmiP53634.

Polymorphism and mutation databases

BioMutaiCTSC.
DMDMi317373330.

Proteomic databases

EPDiP53634.
MaxQBiP53634.
PaxDbiP53634.
PeptideAtlasiP53634.
PRIDEiP53634.
TopDownProteomicsiP53634-1. [P53634-1]

Protocols and materials databases

DNASUi1075.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000227266; ENSP00000227266; ENSG00000109861. [P53634-1]
ENST00000524463; ENSP00000432541; ENSG00000109861. [P53634-2]
ENST00000529974; ENSP00000433539; ENSG00000109861. [P53634-3]
GeneIDi1075.
KEGGihsa:1075.
UCSCiuc001pck.5. human. [P53634-1]

Organism-specific databases

CTDi1075.
GeneCardsiCTSC.
HGNCiHGNC:2528. CTSC.
HPAiCAB025364.
MalaCardsiCTSC.
MIMi170650. phenotype.
245000. phenotype.
245010. phenotype.
602365. gene.
neXtProtiNX_P53634.
Orphaneti2342. Haim-Munk syndrome.
678. Papillon-Lefevre syndrome.
PharmGKBiPA27028.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1543. Eukaryota.
COG4870. LUCA.
GeneTreeiENSGT00760000118871.
HOGENOMiHOG000127503.
HOVERGENiHBG005248.
InParanoidiP53634.
KOiK01275.
OMAiYDDFLHY.
OrthoDBiEOG091G06TT.
PhylomeDBiP53634.
TreeFamiTF313225.

Enzyme and pathway databases

BioCyciMetaCyc:HS03265-MONOMER.
BRENDAi3.4.14.1. 2681.
ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-2132295. MHC class II antigen presentation.
R-HSA-5694530. Cargo concentration in the ER.
SABIO-RKP53634.

Miscellaneous databases

ChiTaRSiCTSC. human.
EvolutionaryTraceiP53634.
GeneWikiiCathepsin_C.
GenomeRNAii1075.
PMAP-CutDBP53634.
PROiP53634.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109861.
ExpressionAtlasiP53634. baseline and differential.
GenevisibleiP53634. HS.

Family and domain databases

Gene3Di2.40.128.80. 1 hit.
InterProiIPR014882. CathepsinC_exc.
IPR033161. DPP_I.
IPR025661. Pept_asp_AS.
IPR000169. Pept_cys_AS.
IPR025660. Pept_his_AS.
IPR013128. Peptidase_C1A.
IPR000668. Peptidase_C1A_C.
[Graphical view]
PANTHERiPTHR12411. PTHR12411. 1 hit.
PTHR12411:SF354. PTHR12411:SF354. 1 hit.
PfamiPF08773. CathepsinC_exc. 1 hit.
PF00112. Peptidase_C1. 1 hit.
[Graphical view]
PRINTSiPR00705. PAPAIN.
SMARTiSM00645. Pept_C1. 1 hit.
[Graphical view]
SUPFAMiSSF75001. SSF75001. 1 hit.
PROSITEiPS00640. THIOL_PROTEASE_ASN. 1 hit.
PS00139. THIOL_PROTEASE_CYS. 1 hit.
PS00639. THIOL_PROTEASE_HIS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCATC_HUMAN
AccessioniPrimary (citable) accession number: P53634
Secondary accession number(s): A8K7V2
, B5MDD5, Q2HIY8, Q53G93, Q71E75, Q71E76, Q7M4N9, Q7Z3G7, Q7Z5U7, Q8WY99, Q8WYA7, Q8WYA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2011
Last modified: September 7, 2016
This is version 176 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.