Ctsc MGI Mouse Gene Detail - MGI:109553 - cathepsin C

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Ctsc Gene Detail

Symbol

Ctsc
Name

cathepsin C
Synonyms

dipeptidylpeptidase 1, DPP1, DPPI

Feature Type

protein coding gene
IDs

MGI:109553
NCBI Gene: 13032
Alliance

genome feature page
Transcription Start Sites

29 TSS

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Sequence Map

Chr7:87927293-87960096 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 49.11 cM, cytoband D3-E1.1
Mapping Data

3 experiments

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SNPs within 2kb

871 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_109553	protein coding gene	Chr7:87927233-87960096 (+)
129S1/SvImJ	ENSMUSG00200026131	protein coding gene	Chr7:74725439-74758925 (+)
A/J	ENSMUSG00195041593	protein coding gene	Chr7:79255673-79289164 (+)
AKR/J	ENSMUSG00220039668	protein coding gene	Chr7:72740593-72774085 (+)
BALB/cJ	ENSMUSG00180035625	protein coding gene	Chr7:75932620-75966115 (+)
C3H/HeJ	ENSMUSG00175035239	protein coding gene	Chr7:76620532-76654015 (+)
C57BL/6NJ	ENSMUSG00215023944	protein coding gene	Chr7:75762668-75795473 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029970	protein coding gene	Chr7:91484459-91517492 (+)
CAST/EiJ	ENSTCUG00005041970	protein coding gene	Chr7:79245627-79278424 (+)
CBA/J	ENSMUSG00210033749	protein coding gene	Chr7:76463541-76497030 (+)
DBA/2J	ENSMUSG00185031463	protein coding gene	Chr7:80793003-80826488 (+)
FVB/NJ	ENSMUSG00205022296	protein coding gene	Chr7:76420564-76454056 (+)
JF1/MsJ	ENSUMUG00000019203	protein coding gene	Chr7:85727532-85760798 (+)
LP/J	ENSMUSG00230013891	protein coding gene	Chr7:86882756-86916242 (+)
NOD/ShiLtJ	ENSMUSG00190024338	protein coding gene	Chr7:76676846-76710334 (+)
NZO/HlLtJ	ENSMUSG00225009830	protein coding gene	Chr7:85157343-85190828 (+)
PWK/PhJ	ENSLUMG00010038836	protein coding gene	Chr7:74927383-74960511 (+)
SPRET/EiJ	no annotation
WSB/EiJ	ENSIUOG00005032698	protein coding gene	Chr7:77018222-77051066 (+)

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Human Ortholog

CTSC, cathepsin C

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CTSC, cathepsin C
Synonyms

CPPI, DPP1, DPP-I, DPPI, HMS, JP, JPD, PALS, PDON1, PLS
Links

HGNC:2528

NCBI Gene ID: 1075

UniProt: P53634
Chr Location

11q14.2; chr11:88265069-88359684 (-) GRCh38

MGI Vertebrate Homology

Ctsc stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CTSC
Gene Tree

Ctsc

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Diseases

1 with Ctsc mouse models; 1 with human CTSC associations

Human Disease

Mouse Models

Mouse gene associated with disease

IDs

View 1 model

Human gene associated with disease

Papillon-Lefevre disease

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

14 phenotypes from 2 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
68 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

1
Radiation induced

3
Targeted

4
Genomic Mutations

4 involving Ctsc
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities

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All GO Annotations

42
GO References

12

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

744
Tissues

80
cDNA Data

279
Literature Summary

6

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CTSC

Xenbase ctsc

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All Sequences

83
RefSeq

11
UniProt

12
CCDS

CCDS21438.1, CCDS85332.1

Ensembl

ENSMUSG00000030560 (Evidence)
NCBI Gene

13032

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000030560	Ensembl Gene Model \| MGI Sequence Detail	32804	C57BL/6J	± kb
	transcript	ENSMUST00000032779	Ensembl \| MGI Sequence Detail	2493	Not Applicable
	polypeptide	ENSMUSP00000032779	Ensembl \| MGI Sequence Detail	462	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000006024 dipeptidyl peptidase 1

(term hierarchy)
EC

3.4.14.1
InterPro Domains

IPR039412 Cathepsin C

IPR014882 Cathepsin C exclusion

IPR036496 Cathepsin C, exclusion domain superfamily

IPR025661 Cysteine peptidase, asparagine active site

IPR000169 Cysteine peptidase, cysteine active site

IPR025660 Cysteine peptidase, histidine active site

IPR038765 Papain-like cysteine peptidase superfamily

IPR013128 Peptidase C1A

IPR000668 Peptidase C1A, papain C-terminal
GlyGen

P97821 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 282

Genomic 2

cDNA 279

Primer pair 1

Microarray probesets 5

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MGD-MRK-39552, MGI:2141863

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Summaries

All 113

Developmental Gene Expression 6

Diseases 1

Gene Ontology 12

Phenotypes 68
Earliest

J:141526 Russell LB, et al., Analysis of the albino-locus region of the mouse. III. Time of death of prenatal lethals. Genetics. 1979 May;92(1):205-13
Latest

J:378715 Yang L, et al., Extracellular matrix anchored neutrophils drive pulmonary fibrosis in mice. Nat Commun. 2025 Nov 26;16(1):11655

TSS for Ctsc:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67623	Chr7:87927334-87927349 (+)	49 bp
Tssr67624	Chr7:87927988-87927996 (+)	699 bp
Tssr67625	Chr7:87929702-87929746 (+)	2,431 bp
Tssr67626	Chr7:87929790-87929800 (+)	2,502 bp
Tssr67627	Chr7:87929816-87929829 (+)	2,530 bp
Tssr67628	Chr7:87930177-87930182 (+)	2,887 bp
Tssr67629	Chr7:87930587-87930713 (+)	3,357 bp
Tssr67630	Chr7:87933106-87933124 (+)	5,822 bp
Tssr67631	Chr7:87937958-87937969 (+)	10,671 bp
Tssr67632	Chr7:87938151-87938163 (+)	10,864 bp
Tssr67633	Chr7:87938179-87938192 (+)	10,893 bp
Tssr67634	Chr7:87939659-87939669 (+)	12,371 bp
Tssr67635	Chr7:87939805-87939815 (+)	12,517 bp
Tssr67636	Chr7:87940033-87940046 (+)	12,747 bp
Tssr67637	Chr7:87940081-87940096 (+)	12,796 bp
Tssr67638	Chr7:87940105-87940121 (+)	12,820 bp
Tssr67639	Chr7:87940163-87940172 (+)	12,875 bp
Tssr67640	Chr7:87940207-87940220 (+)	12,921 bp
Tssr67641	Chr7:87946299-87946310 (+)	19,012 bp
Tssr67642	Chr7:87946341-87946384 (+)	19,070 bp
Tssr67643	Chr7:87946393-87946405 (+)	19,106 bp
Tssr67644	Chr7:87946412-87946425 (+)	19,126 bp
Tssr67645	Chr7:87946453-87946465 (+)	19,166 bp
Tssr67646	Chr7:87948691-87948703 (+)	21,404 bp
Tssr67647	Chr7:87951389-87951411 (+)	24,107 bp
Tssr67648	Chr7:87951471-87951483 (+)	24,184 bp
Tssr67649	Chr7:87957257-87957266 (+)	29,969 bp
Tssr67650	Chr7:87957317-87957335 (+)	30,033 bp
Tssr67651	Chr7:87958666-87958685 (+)	31,383 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24