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Ctsa Gene Detail
Summary
  • Symbol
    Ctsa
  • Name
    cathepsin A
  • Synonyms
    PPCA, Ppgb
  • Feature Type
    protein coding gene
  • IDs
    MGI:97748
    NCBI Gene: 19025
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:164674793-164682952 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 85.27 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    283 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97748
 protein coding gene Chr2:164674792-164682952 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026879
 protein coding gene Chr2:170337845-170350020 (+)
A/J MGP_AJ_G0026846
 protein coding gene Chr2:163371819-163379808 (+)
AKR/J MGP_AKRJ_G0026817
 protein coding gene Chr2:168247061-168255011 (+)
BALB/cJ MGP_BALBcJ_G0026855
 protein coding gene Chr2:163738346-163746774 (+)
C3H/HeJ MGP_C3HHeJ_G0026597
 protein coding gene Chr2:168594553-168602554 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027302
 protein coding gene Chr2:175271911-175281547 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024673
 protein coding gene Chr2:156778791-156786902 (+)
CAST/EiJ MGP_CASTEiJ_G0026055
 protein coding gene Chr2:169009271-169017266 (+)
CBA/J MGP_CBAJ_G0026574
 protein coding gene Chr2:181634334-181642298 (+)
DBA/2J MGP_DBA2J_G0026712
 protein coding gene Chr2:162538838-162546827 (+)
FVB/NJ MGP_FVBNJ_G0026678
 protein coding gene Chr2:160959451-160967749 (+)
LP/J MGP_LPJ_G0026814
 protein coding gene Chr2:170396297-170407540 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026697
 protein coding gene Chr2:185191696-185199712 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027359
 protein coding gene Chr2:168134189-168142160 (+)
PWK/PhJ MGP_PWKPhJ_G0025792
 protein coding gene Chr2:162139554-162148086 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025593
 protein coding gene Chr2:167033438-167043737 (+)
WSB/EiJ MGP_WSBEiJ_G0026128
 protein coding gene Chr2:169013673-169022157 (+)



Homology
more
  • Human Ortholog
    CTSA, cathepsin A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CTSA, cathepsin A
  • Synonyms
    GLB2, GSL, NGBE, PPCA, PPGB
  • Links
    NCBI Gene ID: 5476
    neXtProt AC: NX_P10619
    UniProt: P10619

  • Chr Location
    20q13.12; chr20:45890144-45898949 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CTSA associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    61 phenotypes from 4 alleles in 4 genetic backgrounds
    23 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.
Homozygous mutants show aberrant lysosomal storage, with vacuolization in specific cells of most tissues. An abormally flat face and reduced body size are apparent at birth, and health progressively deteriorates, with accompanying generalized edema, ataxia and tremors. Death occurs at ~12 months.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    7
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
non-membrane-bounded 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
    809
  • Tissues
    97
  • cDNA Data
    16
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000017760 Ensembl Gene Model | MGI Sequence Detail 8160 C57BL/6J ±  kb
    transcript ENSMUST00000103092 Ensembl | MGI Sequence Detail 3646 Not Applicable  
    polypeptide ENSMUSP00000099381 Ensembl | MGI Sequence Detail 492 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 1
      cDNA 17
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13590, MGI:2139179
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 23
    • Earliest
      J:10347 Galjart NJ, et al., Mouse protective protein. cDNA cloning, sequence comparison, and expression. J Biol Chem. 1990 Mar 15;265(8):4678-84
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory