CTSC cathepsin C [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTSCprovided by HGNC
Official Full Name: cathepsin Cprovided by HGNC
Primary source: HGNC:HGNC:2528
See related: Ensembl:ENSG00000109861 MIM:602365; AllianceGenome:HGNC:2528
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; DPP-I; PDON1
Summary: This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]
Expression: Broad expression in placenta (RPKM 28.5), lung (RPKM 26.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (88293592..88337736, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (88212614..88256755, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (88026760..88070904, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Single-cell transcriptomic sequencing coupled with Mendelian randomization analysis elucidates the pivotal role of CTSC in chronic rhinosinusitis].
Title: [Single-cell transcriptomic sequencing coupled with Mendelian randomization analysis elucidates the pivotal role of CTSC in chronic rhinosinusitis].
Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefevre syndrome.
Title: Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefèvre syndrome.
Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Title: Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.
Title: Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.
Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.
Title: Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.
Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.
Title: Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.
Evolutionary Analysis of Dipeptidyl Peptidase I.
Title: Evolutionary Analysis of Dipeptidyl Peptidase I.
Downregulation of cathepsin C alleviates endothelial cell dysfunction by suppressing p38 MAPK/NF-kappaB pathway in preeclampsia.
Title: Downregulation of cathepsin C alleviates endothelial cell dysfunction by suppressing p38 MAPK/NF-κB pathway in preeclampsia.
Cathepsin C Regulates Cytokine-Induced Apoptosis in beta-Cell Model Systems.
Title: Cathepsin C Regulates Cytokine-Induced Apoptosis in β-Cell Model Systems.
A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.
Title: A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Haim-Munk syndrome MedGen: C1855627 OMIM: 245010 GeneReviews: Not available	Compare labs
Papillon-Lefevre syndrome MedGen: C0030360 OMIM: 245000 GeneReviews: Not available	Compare labs
Periodontitis, aggressive 1 MedGen: C4551681 OMIM: 170650 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of cathepsin C (CTSC) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with CTSC; predicted interaction to be within the endoplasmic reticulum	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of cathepsin C (CTSC) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482578

STS-X87212 (e-PCR)
- UniSTS:54593

WI-17078 (e-PCR)
- UniSTS:79490

CTSC_21 (e-PCR)
- UniSTS:277135

G33071 (e-PCR)
- UniSTS:117647

SHGC-56741 (e-PCR)
- UniSTS:23223

RH92667 (e-PCR)
- UniSTS:86989

A001U42 (e-PCR)
- UniSTS:3322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride ion binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables dipeptidyl-peptidase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables peptidase activator activity involved in apoptotic process	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of microglial cell activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteolysis involved in protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in COPII-coated ER to Golgi transport vesicle	TAS Traceable Author Statement more info
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in lysosome	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dipeptidyl peptidase 1

Names: cathepsin J; dipeptidyl transferase; dipeptidyl-peptidase I

NP_001107645.1

EC 3.4.14.1

NP_001805.4

EC 3.4.14.1

NP_680475.1

EC 3.4.14.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007952.1 RefSeqGene

Range

5001..49182

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_50

mRNA and Protein(s)

NM_001114173.3 → NP_001107645.1 dipeptidyl peptidase 1 isoform c precursor

See identical proteins and their annotated locations for NP_001107645.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the coding sequence and 3' UTR compared to variant 1. This results in an isoform (c) that is much shorter and contains a different C-terminus than isoform a.

Source sequence(s)

AC011088, BC113850, BX537913, CN368896

Consensus CDS

CCDS44693.1

UniProtKB/TrEMBL

A0A7I2V3A2

Related

ENSP00000433539.1, ENST00000529974.2

Conserved Domains (1) summary

pfam08773
Location:26 → 106

CathepsinC_exc; Cathepsin C exclusion domain
NM_001814.6 → NP_001805.4 dipeptidyl peptidase 1 isoform a preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (a).

Source sequence(s)

AC011088

Consensus CDS

CCDS8282.1

UniProtKB/Swiss-Prot

A8K7V2, B5MDD5, P53634, Q2HIY8, Q53G93, Q71E75, Q71E76, Q7M4N9, Q7Z3G7, Q7Z5U7, Q8WY99, Q8WYA7, Q8WYA8

UniProtKB/TrEMBL

A0A7I2V2Q8

Related

ENSP00000227266.4, ENST00000227266.10

Conserved Domains (2) summary

cd02621
Location:231 → 460

Peptidase_C1A_CathepsinC; Cathepsin C; also known as Dipeptidyl Peptidase I (DPPI), an atypical papain-like cysteine peptidase with chloride dependency and dipeptidyl aminopeptidase activity, resulting from its tetrameric structure which limits substrate access. Each subunit of ...

pfam08773
Location:26 → 138

CathepsinC_exc; Cathepsin C exclusion domain
NM_148170.5 → NP_680475.1 dipeptidyl peptidase 1 isoform b precursor

See identical proteins and their annotated locations for NP_680475.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the coding sequence and 3' UTR compared to variant 1. This results in an isoform (b) that is much shorter and contains a different C-terminus than isoform a. Isoform b may act as a negative regulator of a stable mature enzyme.

Source sequence(s)

AC011088, BX537913

Consensus CDS

CCDS31654.1

UniProtKB/TrEMBL

A0A7I2V3A2

Related

ENSP00000432541.1, ENST00000524463.6

Conserved Domains (1) summary

pfam08773
Location:26 → 106

CathepsinC_exc; Cathepsin C exclusion domain