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Aliases for ABCA3 Gene

Aliases for ABCA3 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 2 3
  • ABC3 3 4 6
  • ATP-Binding Cassette Transporter 3 3 4
  • ABC-C Transporter 3 4
  • SMDP3 3 6
  • ATP-Binding Cassette Sub-Family A Member 3 3
  • ATP-Binding Cassette 3 4
  • ABC Transporter 3 3
  • EC 3.6.3.17 64
  • EST111653 3
  • EC 3.6.3 64
  • LBM180 3
  • ABC-C 3

External Ids for ABCA3 Gene

Previous Symbols for ABCA3 Gene

  • ABC3

Summaries for ABCA3 Gene

Entrez Gene Summary for ABCA3 Gene

  • 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]

GeneCards Summary for ABCA3 Gene

ABCA3 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 3) is a Protein Coding gene. Diseases associated with ABCA3 include surfactant metabolism dysfunction, pulmonary, 3 and abca3-related pulmonary surfactant metabolism dysfunction. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA3 Gene

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

Gene Wiki entry for ABCA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA3 Gene

Genomics for ABCA3 Gene

Genomic Location for ABCA3 Gene

Start:
2,275,878 bp from pter
End:
2,340,746 bp from pter
Size:
64,869 bases
Orientation:
Minus strand

Genomic View for ABCA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA3 Gene

Regulatory Elements for ABCA3 Gene

Proteins for ABCA3 Gene

  • Protein details for ABCA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99758-ABCA3_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 3
    Protein Accession:
    Q99758
    Secondary Accessions:
    • B2RU09
    • Q54A95
    • Q6P5P9
    • Q92473

    Protein attributes for ABCA3 Gene

    Size:
    1704 amino acids
    Molecular mass:
    191362 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA3 Gene

Proteomics data for ABCA3 Gene at MOPED

Selected DME Specific Peptides for ABCA3 Gene

Post-translational modifications for ABCA3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1668

Other Protein References for ABCA3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ABCA3 Gene

Gene Families for ABCA3 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

Protein Domains for ABCA3 Gene

UniProtKB/Swiss-Prot:

ABCA3_HUMAN
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.:
    • Q99758
  • Contains 2 ABC transporter domains.:
    • Q99758
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.:
    • Q99758
genes like me logo Genes that share domains with ABCA3: view

Function for ABCA3 Gene

Molecular function for ABCA3 Gene

GENATLAS Biochemistry: ATP binding cassette superfamily,subfamily A,member 3,involved in resistance to xenobiotics,mouse ABC2 (mu ABC2) homolog,highly expressed in lung,brain,heart,pancreas
UniProtKB/Swiss-Prot Function: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol

Enzyme Numbers (IUBMB) for ABCA3 Gene

Gene Ontology (GO) - Molecular Function for ABCA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9027511
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances TAS 9027511
genes like me logo Genes that share ontologies with ABCA3: view
genes like me logo Genes that share phenotypes with ABCA3: view

Animal Models for ABCA3 Gene

MGI Knock Outs for ABCA3:

miRNA for ABCA3 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for ABCA3 Gene

Localization for ABCA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA3 Gene COMPARTMENTS Subcellular localization image for ABCA3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005886 plasma membrane TAS --
GO:0016020 membrane TAS 9027511
GO:0016021 integral component of membrane IEA --
GO:0097208 alveolar lamellar body IDA 11718719
genes like me logo Genes that share ontologies with ABCA3: view

Pathways for ABCA3 Gene

genes like me logo Genes that share pathways with ABCA3: view

Pathways by source for ABCA3 Gene

Gene Ontology (GO) - Biological Process for ABCA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport IDA 15531465
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
GO:0042493 response to drug TAS 8706931
genes like me logo Genes that share ontologies with ABCA3: view

Compounds for ABCA3 Gene

(1) Drugbank Compounds for ABCA3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Imatinib
  • CGP-57148B
152459-95-5 transporter substrate

(2) Novoseek inferred chemical compound relationships for ABCA3 Gene

Compound -log(P) Hits PubMed IDs
atp 28.2 1
lipid 0 1
genes like me logo Genes that share compounds with ABCA3: view

Transcripts for ABCA3 Gene

Unigene Clusters for ABCA3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: - -
SP3:
SP4:

ExUns: 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ABCA3 Gene

GeneLoc Exon Structure for
ABCA3
ECgene alternative splicing isoforms for
ABCA3

Expression for ABCA3 Gene

mRNA expression in normal human tissues for ABCA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA3 Gene

This gene is overexpressed in Lung (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA3 Gene

SOURCE GeneReport for Unigene cluster for ABCA3 Gene Hs.26630

mRNA Expression by UniProt/SwissProt for ABCA3 Gene

Q99758-ABCA3_HUMAN
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
genes like me logo Genes that share expressions with ABCA3: view

Orthologs for ABCA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA3 36
  • 99.24 (n)
  • 99.59 (a)
ABCA3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCA3 36
  • 87.55 (n)
  • 89.14 (a)
ABCA3 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA3 36
  • 87.44 (n)
  • 89.18 (a)
ABCA3 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca3 36
  • 84.49 (n)
  • 88.09 (a)
Abca3 16
Abca3 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCA3 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 66 (a)
OneToMany
-- 37
  • 61 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abca3 36
  • 84.6 (n)
  • 88.09 (a)
chicken
(Gallus gallus)
Aves ABCA3 36
  • 73.4 (n)
  • 68.82 (a)
ABCA3 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 65 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.5193 36
tropical clawed frog
(Silurana tropicalis)
Amphibia abca3 36
  • 64.44 (n)
  • 63.98 (a)
Str.16690 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5550 36
zebrafish
(Danio rerio)
Actinopterygii ABCA3 (2 of 2) 37
  • 55 (a)
OneToMany
abca3b 36
  • 66.89 (n)
  • 65.03 (a)
abca3b 37
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006379 36
  • 52.03 (n)
  • 40.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1718 36
  • 51.08 (n)
  • 40.85 (a)
CG1718 37
  • 37 (a)
OneToMany
CG6052 37
  • 32 (a)
OneToMany
CG6052 38
  • 32 (a)
CG1718 38
  • 37 (a)
CG1819 38
  • 26 (a)
CG8908 38
  • 25 (a)
BG:DS00797.5 38
  • 31 (a)
CG1801 38
  • 22 (a)
CG1494 38
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea abt-4 36
  • 48.17 (n)
  • 37.26 (a)
abt-6 37
  • 45 (a)
OneToOne
ced-7 38
  • 26 (a)
Species with no ortholog for ABCA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA3 Gene

ENSEMBL:
Gene Tree for ABCA3 (if available)
TreeFam:
Gene Tree for ABCA3 (if available)

Paralogs for ABCA3 Gene

Paralogs for ABCA3 Gene

Pseudogenes.org Pseudogenes for ABCA3 Gene

genes like me logo Genes that share paralogs with ABCA3: view

Variants for ABCA3 Gene

Sequence variations from dbSNP and Humsavar for ABCA3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs46725 -- 2,325,960(-) CACGC(A/G)GCTGG intron-variant
rs150926 -- 2,280,168(-) agggt(C/G)agaag intron-variant
rs150927 -- 2,279,908(-) ttagc(A/G)gggca intron-variant
rs150928 -- 2,278,789(-) TAGCT(C/T)CACGT intron-variant
rs150929 -- 2,278,649(-) GGGAA(A/C)AGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA3 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2545n71 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
nsv471072 CNV Loss 18288195
nsv905139 CNV Loss 21882294
dgv2567n71 CNV Loss 21882294
nsv457353 CNV Loss 19166990
dgv2568n71 CNV Loss 21882294
nsv905144 CNV Gain 21882294
esv2750379 CNV Deletion 23290073
esv4221 CNV Deletion 18987735
esv6856 CNV Loss 19470904
esv2675164 CNV Deletion 23128226
esv2750380 CNV Deletion 23290073
esv2750381 CNV Deletion 23290073
esv2750382 CNV Deletion 23290073
esv2750383 CNV Deletion 23290073
nsv827512 CNV Gain 20364138

Relevant External Links for ABCA3 Gene

HapMap Linkage Disequilibrium report
ABCA3
Human Gene Mutation Database (HGMD)
ABCA3

Disorders for ABCA3 Gene

(1) OMIM Diseases for ABCA3 Gene (601615)

UniProtKB/Swiss-Prot

ABCA3_HUMAN
  • 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:0000269 PubMed:15044640}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ABCA3 Gene

(1) Novoseek inferred disease relationships for ABCA3 Gene

Disease -log(P) Hits PubMed IDs
lung diseases 35.2 3

Relevant External Links for ABCA3

Genetic Association Database (GAD)
ABCA3
Human Genome Epidemiology (HuGE) Navigator
ABCA3
genes like me logo Genes that share disorders with ABCA3: view

Publications for ABCA3 Gene

  1. Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. (PMID: 8706931) Klugbauer N. … Hofmann F. (FEBS Lett. 1996) 2 3 4 23
  2. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. (PMID: 9027511) Connors T.D. … Burn T.C. (Genomics 1997) 3 4 23
  3. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. (PMID: 11718719) Yamano G. … Inagaki N. (FEBS Lett. 2001) 3 4 23
  4. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PMID: 18317237) Garmany T.H. … Hamvas A. (Pediatr. Res. 2008) 3 23 49
  5. ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID: 15044640) Shulenin S. … Dean M. (N. Engl. J. Med. 2004) 3 4 49

Products for ABCA3 Gene

Sources for ABCA3 Gene

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