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Abcd3 Gene Detail
Summary
  • Symbol
    Abcd3
  • Name
    ATP-binding cassette, sub-family D (ALD), member 3
  • Synonyms
    PMP70, Pxmp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349216
    NCBI Gene: 19299
  • Gene Overview
    MyGene.info: ABCD3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:121758774-121815302 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      56529 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 52.94 cM, cytoband G-H1
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    ABCD3, ATP binding cassette subfamily D member 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ABCD3, ATP binding cassette subfamily D member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC43, CBAS5, PMP70, PXMP1, ZWS2
  • Links
    NCBI Gene ID: 5825
    neXtProt AC: NX_P28288
    UniProt: P28288

  • Chr Location
    1p21.3; chr1:94385106-94518663 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Abcd3 mouse models; 1 with human ABCD3 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    11 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.
Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities.
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 OTTMUSG00000031086 VEGA Gene Model | MGI Sequence Detail 56529 C57BL/6J ±  kb
    transcript OTTMUST00000077011 VEGA | MGI Sequence Detail 3489 Not Applicable  
    polypeptide OTTMUSP00000040614 VEGA | MGI Sequence Detail 659 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      740 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000003567 ATP-binding cassette sub-family D member 3
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR017871 ABC transporter, conserved site
      IPR003439 ABC transporter-like
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR031241 ATP-binding cassette sub-family D member 3
      IPR005283 Peroxysomal long chain fatty acyl transporter
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 214
      Genomic 1
      cDNA 213

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13699, MGI:2139661, MGI:2139875, MGI:2139974, MGI:97826
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 11
      Phenotypes 11
    • Earliest
      J:4078 Gartner J, et al., Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. 1993 Feb;15(2):412-4
    • Latest
      J:237975 McWilliams TG, et al., mito-QC illuminates mitophagy and mitochondrial architecture in vivo. J Cell Biol. 2016 Aug 01;214(3):333-45

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory