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Pmpca Gene Detail
Summary
  • Symbol
    Pmpca
  • Name
    peptidase (mitochondrial processing) alpha
  • Synonyms
    4933435E07Rik, Alpha-MPP, INPP5E
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918568
    NCBI Gene: 66865
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26279351-26287134 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 18.88 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    210 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918568
 protein coding gene Chr2:26275554-26287134 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025487
 protein coding gene Chr2:24338676-24346459 (+)
A/J MGP_AJ_G0025464
 protein coding gene Chr2:23406652-23414435 (+)
AKR/J MGP_AKRJ_G0025434
 protein coding gene Chr2:24168467-24176250 (+)
BALB/cJ MGP_BALBcJ_G0025460
 protein coding gene Chr2:23515326-23523109 (+)
C3H/HeJ MGP_C3HHeJ_G0025221
 protein coding gene Chr2:24128088-24135871 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025904
 protein coding gene Chr2:25122384-25130167 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023315
 protein coding gene Chr2:22285525-22294674 (+)
CAST/EiJ MGP_CASTEiJ_G0024684
 protein coding gene Chr2:23999849-24007632 (+)
CBA/J MGP_CBAJ_G0025199
 protein coding gene Chr2:25973564-25981347 (+)
DBA/2J MGP_DBA2J_G0025332
 protein coding gene Chr2:23228185-23235968 (+)
FVB/NJ MGP_FVBNJ_G0025294
 protein coding gene Chr2:22979840-22987623 (+)
LP/J MGP_LPJ_G0025418
 protein coding gene Chr2:24283637-24291420 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025325
 protein coding gene Chr2:26125719-26133502 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025963
 protein coding gene Chr2:24126682-24134465 (+)
PWK/PhJ MGP_PWKPhJ_G0024432
 protein coding gene Chr2:23031342-23039171 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024232
 protein coding gene Chr2:24260242-24268837 (+)
WSB/EiJ MGP_WSBEiJ_G0024753
 protein coding gene Chr2:24233340-24241123 (+)



Homology
more
  • Human Ortholog
    PMPCA, peptidase, mitochondrial processing subunit alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PMPCA, peptidase, mitochondrial processing subunit alpha
  • Synonyms
    Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2
  • Links
    NCBI Gene ID: 23203
    neXtProt AC: NX_Q10713
    UniProt: Q10713

  • Chr Location
    9q34.3; chr9:136410630-136427992 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PMPCA associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    6 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • 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
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
    719
  • Tissues
    11
  • cDNA Data
    16
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026926 Ensembl Gene Model | MGI Sequence Detail 7784 C57BL/6J ±  kb
    transcript ENSMUST00000076431 Ensembl | MGI Sequence Detail 3135 Not Applicable  
    polypeptide ENSMUSP00000075762 Ensembl | MGI Sequence Detail 524 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012911 mitochondrial-processing peptidase subunit alpha
      (term hierarchy)
    • InterPro Domains
      IPR011249 Metalloenzyme, LuxS/M16 peptidase-like
      IPR050361 Mitochondrial Processing Peptidase/Ubiquinol-cytochrome c Reductase Complex
      IPR007863 Peptidase M16, C-terminal
      IPR011765 Peptidase M16, N-terminal
      IPR001431 Peptidase M16, zinc-binding site
    • GlyGen
      Q9DC61 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 4
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 6
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • 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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory