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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
Location & Maps
more
  • Sequence Map
    Chr14:122534324-122891100 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      356777 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 65.99 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PCCA, propionyl-CoA carboxylase subunit alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PCCA, propionyl-CoA carboxylase subunit alpha
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 5095
    neXtProt AC: NX_P05165
    UniProt: P05165

  • Chr Location
    13q32.3; chr13:100089015-100530437 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human PCCA associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    3 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000025744 VEGA Gene Model | MGI Sequence Detail 356777 C57BL/6J ±  kb
    transcript OTTMUST00000063407 VEGA | MGI Sequence Detail 2592 Not Applicable  
    polypeptide OTTMUSP00000031341 VEGA | MGI Sequence Detail 724 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      510 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-13172, MGI:2145863
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 5
      Gene Ontology 7
      Phenotypes 3
    • 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:252359 Rivera-Barahona A, et al., Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. Sci Rep. 2017 Jul 18;7(1):5727

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/18/2018
    MGI 6.12
    The Jackson Laboratory