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Abcd3 Gene Detail
Summary
  • Symbol
    Abcd3
  • Name
    ATP-binding cassette, sub-family D member 3
  • Synonyms
    PMP70, Pxmp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349216
    NCBI Gene: 19299
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:121552423-121608951 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 3, 52.94 cM, cytoband G-H1
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    740 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349216
protein coding gene Chr3:121552423-121609851 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027834
protein coding gene Chr3:123968007-124026357 (-)
A/J MGP_AJ_G0027792
protein coding gene Chr3:119842226-119899247 (-)
AKR/J MGP_AKRJ_G0027758
protein coding gene Chr3:122883417-122940726 (-)
BALB/cJ MGP_BALBcJ_G0027804
protein coding gene Chr3:119646606-119706293 (-)
C3H/HeJ MGP_C3HHeJ_G0027535
protein coding gene Chr3:123279220-123339864 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028250
protein coding gene Chr3:128449565-128510784 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025589
protein coding gene Chr3:115253552-115312085 (-)
CAST/EiJ MGP_CASTEiJ_G0026991
protein coding gene Chr3:122653059-122715174 (-)
CBA/J MGP_CBAJ_G0027510
protein coding gene Chr3:132811662-132877533 (-)
DBA/2J MGP_DBA2J_G0027651
protein coding gene Chr3:118986842-119041372 (-)
FVB/NJ MGP_FVBNJ_G0027619
protein coding gene Chr3:116590427-116647045 (-)
LP/J MGP_LPJ_G0027761
protein coding gene Chr3:125490618-125550834 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027649
protein coding gene Chr3:140417011-140477322 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028306
protein coding gene Chr3:122435007-122492482 (-)
PWK/PhJ MGP_PWKPhJ_G0026717
protein coding gene Chr3:118681449-118737591 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026540
protein coding gene Chr3:120525746-120589287 (-)
WSB/EiJ MGP_WSBEiJ_G0027071
protein coding gene Chr3:123161497-123220377 (-)



Homology
more
  • Human Ortholog
    ABCD3, ATP binding cassette subfamily D member 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCD3, ATP binding cassette subfamily D member 3
  • Synonyms
    ABC43, CBAS5, PMP70, PXMP1, ZWS2
  • Links
    NCBI Gene ID: 5825
    neXtProt AC: NX_P28288
    UniProt: P28288

  • Chr Location
    1p21.3; chr1:94385131-94518666 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Abcd3 mouse models; 2 with human ABCD3 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028127 Ensembl Gene Model | MGI Sequence Detail 56529 C57BL/6J ±  kb
    transcript ENSMUST00000029770 Ensembl | MGI Sequence Detail 3489 Not Applicable  
    polypeptide ENSMUSP00000029770 Ensembl | MGI Sequence Detail 659 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 70
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 17
      Phenotypes 16
    • 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:344833 Shim SM, et al., The Cys-N-degron pathway modulates pexophagy through the N-terminal oxidation and arginylation of ACAD10. Autophagy. 2023 Jun;19(6):1642-1661

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory