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ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001089 Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. GenEZ ORF Cloning On-demand $2699.00 30

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Gene Symbol ABCA3
Entrez Gene ID 21
Full Name ATP-binding cassette, sub-family A (ABC1), member 3
Synonyms ABC-C, ABC3, EST111653, LBM180, SMDP3
General protein information
Preferred Names
ATP-binding cassette sub-family A member 3
Names
ATP-binding cassette sub-family A member 3
ABC transporter 3
ABC-C transporter
ATP-binding cassette transporter 3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 601615

Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)

mRNA Protein Product Sequence Price Select
NM_001089, 116734709 NP_001080, 116734710 ATP-binding cassette sub-family A member 3 ORF Sequence $2500.00
KEGG
hsa02010ABC transporters
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_15480ABC-family proteins mediated transport
REACT_111158ABCA transporters in lipid homeostasis
Homo sapiens (human)ABCA3NP_001080.2
Pan troglodytes (chimpanzee)ABCA3XP_510744.2
Canis lupus familiaris (dog)ABCA3XP_005621743.1
Bos taurus (cattle)ABCA3NP_001107218.1
Mus musculus (house mouse)Abca3NP_001034670.1
Rattus norvegicus (Norway rat)Abca3XP_006246102.1
Gallus gallus (chicken)ABCA3XP_004945493.1
Danio rerio (zebrafish)abca3bXP_002661144.3
Drosophila melanogaster (fruit fly)CG1718NP_001259764.1
Caenorhabditis elegansabt-4NP_503175.1
Xenopus (Silurana) tropicalis (western clawed frog)abca3XP_002932496.2
Process
IDNameEvidence
GO:0006200ATP catabolic processIEA
GO:0006810transportIDA
GO:0042493response to drugTAS
GO:0051384response to glucocorticoidIEA
GO:0055085transmembrane transportTAS
Component
IDNameEvidence
GO:0005615extracellular spaceIDA
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0016020membraneTAS
GO:0016021integral component of membraneIEA
GO:0097208alveolar lamellar bodyIDA
GO:0097233alveolar lamellar body membraneIEA
Function
IDNameEvidence
GO:0005215transporter activityTAS
GO:0005524ATP bindingIEA
GO:0042626ATPase activity, coupled to transmembrane movement of substancesTAS
GeneCards ABCA3
UniProt Q99758, Q6P5P9, Q4LE27
Vega OTTHUMG00000128845
MIM 601615
Ensembl ENSG00000167972
HGNC 33
HPRD 03369

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ABCA3 gene?

The ABCA3 gene provides instructions for making a protein involved in surfactant production. Surfactant is a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together after exhalation (because of a force called surface tension), causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and delivery of oxygen to the body is impaired.

The ABCA3 protein is found in the membrane that surrounds lamellar bodies, which are the cellular structures in which the phospholipids and proteins that make up surfactant are packaged. The ABCA3 protein transports phospholipids into the lamellar bodies where they interact with surfactant proteins to form surfactant. The ABCA3 protein also appears to be involved in the formation of normal lamellar bodies. In addition to packaging, lamellar bodies are important for the correct processing of surfactant proteins, which is necessary for the proteins to mature and become functional.

Interactant

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