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Ctsc Gene Detail
Summary
  • Symbol
    Ctsc
  • Name
    cathepsin C
  • Synonyms
    dipeptidylpeptidase 1, DPP1, DPPI
  • Feature Type
    protein coding gene
  • IDs
    MGI:109553
    NCBI Gene: 13032
  • Alliance
    gene page
  • Transcription Start Sites
    29 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • 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 MGP_129S1SvImJ_G0032492
 protein coding gene Chr7:90653720-90688250 (+)
A/J MGP_AJ_G0032466
 protein coding gene Chr7:88487396-88533416 (+)
AKR/J MGP_AKRJ_G0032402
 protein coding gene Chr7:90561128-90598805 (+)
BALB/cJ MGP_BALBcJ_G0032477
 protein coding gene Chr7:88163408-88199955 (+)
C3H/HeJ MGP_C3HHeJ_G0032192
 protein coding gene Chr7:90958666-90993554 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032975
 protein coding gene Chr7:94205712-94238490 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029970
 protein coding gene Chr7:91484459-91517492 (+)
CAST/EiJ MGP_CASTEiJ_G0031519
 protein coding gene Chr7:82233086-82422907 (+)
CBA/J MGP_CBAJ_G0032159
 protein coding gene Chr7:97329996-97367226 (+)
DBA/2J MGP_DBA2J_G0032311
 protein coding gene Chr7:86951826-86986361 (+)
FVB/NJ MGP_FVBNJ_G0032267
 protein coding gene Chr7:86821714-86855757 (+)
LP/J MGP_LPJ_G0032400
 protein coding gene Chr7:91903512-91937269 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032301
 protein coding gene Chr7:98388092-98426615 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032997
 protein coding gene Chr7:89858279-89895217 (+)
PWK/PhJ MGP_PWKPhJ_G0031237
 protein coding gene Chr7:79830906-80011089 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031080
 protein coding gene Chr7:77152266-77186336 (+)
WSB/EiJ MGP_WSBEiJ_G0031636
 protein coding gene Chr7:90478294-90512911 (+)



Homology
more
  • 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
    NCBI Gene ID: 1075
    neXtProt AC: NX_P53634
    UniProt: P53634

  • Chr Location
    11q14.2; chr11:88265069-88359684 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ctsc mouse models; 2 with human CTSC associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    63 phenotype references
Phenotype Overview

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.
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
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    10
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.
Expression
less
Expression Overview

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
    853
  • Tissues
    80
  • cDNA Data
    279
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 282
      Genomic 2
      cDNA 279
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-39552, MGI:2141863
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 10
      Phenotypes 63
    • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory