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Pcca Gene Detail
Summary
  • Symbol
    Pcca
  • Name
    propionyl-Coenzyme A carboxylase, alpha polypeptide
  • Synonyms
    C79630
  • Feature Type
    protein coding gene
  • IDs
    MGI:97499
    NCBI Gene: 110821
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:122771736-123128512 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 65.99 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    442 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97499
 protein coding gene Chr14:122721752-123128512 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021674
 protein coding gene Chr14:120439943-120808283 (+)
A/J MGP_AJ_G0021634
 protein coding gene Chr14:115771006-116134305 (+)
AKR/J MGP_AKRJ_G0021610
 protein coding gene Chr14:119512474-119882800 (+)
BALB/cJ MGP_BALBcJ_G0021640
 protein coding gene Chr14:116315889-116680655 (+)
C3H/HeJ MGP_C3HHeJ_G0021417
 protein coding gene Chr14:119407489-119780169 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022080
 protein coding gene Chr14:125066588-125456764 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019618
 protein coding gene Chr14:111618409-111949063 (+)
CAST/EiJ MGP_CASTEiJ_G0020933
 protein coding gene Chr14:117319550-117673704 (+)
CBA/J MGP_CBAJ_G0021386
 protein coding gene Chr14:129822050-130222177 (+)
DBA/2J MGP_DBA2J_G0021509
 protein coding gene Chr14:115630657-115984437 (+)
FVB/NJ MGP_FVBNJ_G0021487
 protein coding gene Chr14:113988632-114339009 (+)
LP/J MGP_LPJ_G0021577
 protein coding gene Chr14:121348599-121713783 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021514
 protein coding gene Chr14:134802905-135193788 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022103
 protein coding gene Chr14:119104615-119466215 (+)
PWK/PhJ MGP_PWKPhJ_G0020677
 protein coding gene Chr14:112683189-113034365 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020515
 protein coding gene Chr14:115278280-115653969 (+)
WSB/EiJ MGP_WSBEiJ_G0020989
 protein coding gene Chr14:119780473-120154235 (+)



Homology
more
  • Human Ortholog
    PCCA, propionyl-CoA carboxylase subunit alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCCA, propionyl-CoA carboxylase subunit alpha
  • Links
    NCBI Gene ID: 5095
    neXtProt AC: NX_P05165
    UniProt: P05165

  • Chr Location
    13q32.3; chr13:100089015-100530437 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pcca mouse models; 2 with human PCCA associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotypes from multigenic genotypes
    12 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 null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    9
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
    913
  • Tissues
    110
  • cDNA Data
    12
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041650 Ensembl Gene Model | MGI Sequence Detail 356777 C57BL/6J ±  kb
    transcript ENSMUST00000038374 Ensembl | MGI Sequence Detail 2592 Not Applicable  
    polypeptide ENSMUSP00000038763 Ensembl | MGI Sequence Detail 724 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 14
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-13172, MGI:2145863
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 9
      Phenotypes 12
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:328342 Soria LR, et al., O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. Nat Commun. 2022 Sep 5;13(1):5212
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory