InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCA3

Summary

InnateDB Protein

IDBP-10377.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCA3

Protein Name

ATP-binding cassette, sub-family A (ABC1), member 3

Synonyms

ABC-C; ABC3; EST111653; LBM180; SMDP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000301732

InnateDB Gene

IDBG-10371 (ABCA3)

Protein Structure

UniProt Annotation

Function

Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid- Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269PubMed:15044640}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0042493	response to drug
GO:0055085	transmembrane transport

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0097208	alveolar lamellar body
GO:0097233	alveolar lamellar body membrane