Common Name:	ABC3
HGNC Symbol:	ABCA3
HGNC Description:	ATP-binding cassette, sub-family A (ABC1), member 3
HGNC ID:	33
Chromosome:	Chr.16(-): 2265880-2330748
Location:	16p13.3
OMIM:	601615
OMIM Phenotype:	Surfactant deficiency, neonatal
Accessions:	U78735
Nucleotide RefSeq:	NM_001089
Protein RefSeq:	NP_001080
Entrez:	21
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: 1. May play a role in lipid transport/organization during the formation of lamellar bodies (specialized secretory organelles of alveolar epithelial cells through which the packaging and secretion of pulmonary surfactant are regulated). MS of product from IP with LBM180 (see "trivial names") antibody resulted in partial sequence of ABCA3. Mulugeta, S. et al. JBC 2002 Jun 21, 277(25):22147-55 PMID 11940594. Tissue Distribution Evidence: 1. Gene transcript found in human lung cell lines and alveolar epithelial (ATII) cells (developmentally regulated). Mulugeta, S. et al. JBC 2002 Jun 21, 277(25):22147-55 PMID 11940594. 2. Highest levels in lung, lesser amounts in brain, heart, and pancreas (Northern blot). Connors, TD et al. Genomics 1997, 39:231-4. 3. RT-PCR detected high levels of ABCA3 in leukemic progenitor cells. Norwood, K et al. 2004 Mar, 28(3):295-9 PMID 14687625.
Tissues:	lung (high), brain, heart, pancreas
Type:	protein coding
Sets:	0
PharmGKB ID:	PA24378
HPRD ID:	03369
Substrates:	unknown
Trivial Names:	ABC3, ABC-C, SMDP3, LBM180, MGC72201, EST111653, MGC166979
Transcripts:	NM_001089 [Chr.16(-): 2265880-2330748]

ABCA3 Resequencing

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.