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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
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

  • Chr Location
    1p21.3; chr1:94418086-94518663 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Bile Acid Synthesis Defect, Congenital, 5; CBAS5   OMIM: 616278 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    10 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.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Abcd3
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    740 from dbSNP Build 142
  • RFLP
Protein
Information
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  • 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
    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 213
    Genomic 1
    cDNA 212

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13699, MGI:2139661, MGI:2139875, MGI:2139974, MGI:97826
References
more
  • Summaries
    All 50
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 11
    Phenotypes 10
  • 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:217065 Ferdinandusse S, et al., A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum Mol Genet. 2015 Jan 15;24(2):361-70

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
07/19/2016
MGI 6.04
The Jackson Laboratory