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Abca3 Gene Detail
Summary
  • Symbol
    Abca3
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 3
  • Synonyms
    1810036E22Rik, Abc3, ABC-C
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351617
    NCBI Gene: 27410
  • Gene Overview
    MyGene.info: ABCA3
Location & Maps
more
  • Sequence Map
    Chr17:24351950-24410201 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      58252 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ABCA3, ATP binding cassette subfamily A member 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ABCA3, ATP binding cassette subfamily A member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC3, ABC-C, EST111653, LBM180, SMDP3
  • Links
    NCBI Gene ID: 21
    neXtProt AC: NX_Q99758

  • Chr Location
    16p13.3; chr16:2275878-2340746 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Abca3 mouse models; 1 with human ABCA3 associations

Human Disease Mouse Models
       Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3   OMIM: 610921 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 4 alleles in 3 genetic backgrounds
    5 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031259 VEGA Gene Model | MGI Sequence Detail 58252 C57BL/6J ±  kb
transcript OTTMUST00000077443 VEGA | MGI Sequence Detail 6476 Not Applicable  
polypeptide OTTMUSP00000040952 VEGA | MGI Sequence Detail 1704 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    737 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000003541 ATP-binding cassette sub-family A member 3
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR026082 ABC transporter A, ABCA
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR026969 ATP-binding cassette sub-family A member 3
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 160
    cDNA 158
    Primer pair 2

    Microarray probesets 6
Other
Accession IDs
less
MGI:1916408
References
more
  • Summaries
    All 61
    Developmental Gene Expression 24
    Diseases 3
    Gene Ontology 7
    Phenotypes 10
  • Earliest
    J:60841 Schriml LM, et al., Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus. Genomics. 2000 Feb 15;64(1):24-31
  • Latest
    J:227211 Zhang Y, et al., Maternal bile acid transporter deficiency promotes neonatal demise. Nat Commun. 2015;6:8186

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory