ATP-Binding Cassette, Subfamily A, Member 3

Alternative Names

  • ABCA3
  • ATP-Binding Cassette 3
  • ABC3
  • ATP-Binding Cassette Transporter 3
  • ABC Transporter 3
  • CED7, C. Elegans, Homolog of
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OMIM Number

601615

NCBI Gene ID

21

Uniprot ID

Q99758

Length

64,848 bases

No. of Exons

33

No. of isoforms

2

Protein Name

Phospholipid-transporting ATPase ABCA3

Molecular Mass

191362 Da

Amino Acid Count

1704

Genomic Location

chr16:2,275,880-2,340,727

Gene Map Locus
16p13.3

Description

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [From RefSeq]

Molecular Genetics

The ABCA3 gene is located on the short arm of chromosome 16, where it spans a length of 64 kb with its 33 exons.  The encoded ABCA3 protein contains 1704 amino acid residues and has a molecular mass of 19 kDa.  The protein belongs to the highly conserved ABC superfamily of transporters, members of which are involved in the active translocation of a variety of substrates across cell membranes.  The ABCA3 protein is predicted to contain four core domains arranged in two similarly structured halves.  Each half contains six transmembrane domains and a cytosolic ATP-binding cassette (ABC).  This cassette consists of three peptide motifs; Walker A, Walker B, and Walker C motifs.  Of these, the Walker C signature motif is unique to ABCA transporters.  The six transmembrane domains in each half of the protein are assumed to create collectively a channel within the membrane for the transportation of lipids.  The energy for the translocation is provided to by ATP hydrolysis facilitated by the ABC domain.  

More than 200 mutations in this gene have been identified in patients with interstitial lung disease. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001089.2:c.3169G>AUnited Arab EmiratesNC_000016.10:g.2286803C>TUncertain SignificanceNG_011790.1:g.58944G>A; NM_001089.2:c.3169G>A; NP_001080.2:p.Val1057Met537267668
NM_001089.2:c.4195G>AUnited Arab EmiratesNC_000016.10:g.2281191C>TPathogenicLikely PathogenicSurfactant Metabolism Dysfunction, Pulmonary, 3NG_011790.1:g.64556G>A; NM_001089.2:c.4195G>A; NP_001080.2:p.Val1399Met7631666601738591
NM_001089.2:c.446C>TUnited Arab EmiratesNC_000016.10:g.2324405G>ALikely Benign, Uncertain SignificanceUncertain SignificanceSurfactant Metabolism Dysfunction, Pulmonary, 3NG_011790.1:g.21342C>T; NM_001089.2:c.446C>T; NP_001080.2:p.Ala149Val145483014816671
NM_001089.2:c.4675C>TUnited Arab EmiratesNC_000016.10:g.2278331G>ANG_011790.1:g.67416C>T; NM_001089.2:c.4675C>T; NP_001080.2:p.Arg1559Ter769566536

Other Reports

Saudi Arabia

Mukhtar et al, (2016) described three children of consanguineous Saudi couples from the same extended family who presented with respiratory distress and failure to thrive.  Genetic analysis identified a homozygous c.4545delC mutation in exon 29 of the ABCA3 gene in all three patients.  The first cousin parents of one of the patients were found to be homozygous carriers for the mutation.  

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