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Aliases for ABCA3 Gene

Aliases for ABCA3 Gene

  • ATP Binding Cassette Subfamily A Member 3 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 2 3
  • ATP-Binding Cassette Transporter 3 3 4
  • ABC-C Transporter 3 4
  • ABC3 3 4
  • ATP-Binding Cassette Sub-Family A Member 3 3
  • ATP-Binding Cassette 3 4
  • ABC Transporter 3 3
  • EC 3.6.3.17 61
  • EST111653 3
  • EC 3.6.3 61
  • LBM180 3
  • ABC-C 3
  • SMDP3 3

External Ids for ABCA3 Gene

Previous HGNC Symbols for ABCA3 Gene

  • ABC3

Previous GeneCards Identifiers for ABCA3 Gene

  • GC16P002406
  • GC16M002351
  • GC16M002265
  • GC16M002327
  • GC16M002251
  • GC16M002330

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 Subfamily A 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 Surfactant metabolism and Regulation of activated PAK-2p34 by proteasome mediated degradation. 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 ABCA1.

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

Regulatory Elements for ABCA3 Gene

Enhancers for ABCA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F002423 1.2 Ensembl ENCODE 12 -82.6 -82555 0.6 WRNIP1 ZNF76 INSM2 ARID4B KLF17 RAD21 ZNF48 GLIS2 ZNF366 SCRT2 ABCA17P ABCA3 NTN3 TBC1D24 SNORD60 SNHG19 GC16P002427 GC16P002400
GH16F002364 1.1 Ensembl ENCODE 12.4 -24.9 -24928 3.2 PKNOX1 ESRRA TAL1 FEZF1 EBF1 ZIC2 RELA GATA3 ZFHX2 NCOR1 ABCA17P ABCA3 CCNF NTN3 TBC1D24 SRRM2-AS1 GC16M002363 GC16M002369
GH16F002506 1.1 FANTOM5 ENCODE 11.6 -168.0 -168049 4.4 CTCF PKNOX1 USF1 ZIC2 RAD21 RELA POLR2A EGR2 CHD2 MAZ TBC1D24 PDPK1 CEMP1 ABCA17P ABCA3 CCNF SRRM2 ATP6V0C GC16M002495
GH16F002689 1.3 FANTOM5 Ensembl ENCODE 9.3 -350.9 -350918 4.4 DRAP1 SAP130 ARID4B DMAP1 ZIC2 KMT2B ZNF48 ZNF335 POLR2A NR2F6 KCTD5 PRSS27 SRRM2-AS1 SRRM2 PAQR4 KREMEN2 ABCA17P ABCA3 ENSG00000269937 GC16M002686
GH16F002296 1 Ensembl ENCODE 11.7 +43.9 43911 1.2 CTCF HDAC1 ESRRA SAP130 TEAD4 DMAP1 ZNF644 RAD21 TEAD3 SMC3 RNPS1 ABCA17P ABCA3 PIR38241 RPS16P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA3 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001503050 446 1801 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9

Genomic Location for ABCA3 Gene

Chromosome:
16
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

Genes around ABCA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for ABCA3 Gene

Q99758:
  • NGAGKTT
  • LILDEPT

Post-translational modifications for ABCA3 Gene

  • Ubiquitination at Lys 1668
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCA3 Gene

Gene Families for ABCA3 Gene

Suggested Antigen Peptide Sequences for ABCA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q99758

UniProtKB/Swiss-Prot:

ABCA3_HUMAN :
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
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:0005319 lipid transporter activity TAS --
GO:0005524 ATP binding IEA,TAS --
GO:0016887 ATPase activity IEA --
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

Human Phenotype Ontology for ABCA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA3 Gene

MGI Knock Outs for ABCA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
endosome 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 IDA 11718719
GO:0016020 membrane TAS 9027511
GO:0016021 integral component of membrane IEA,TAS --
GO:0097208 alveolar lamellar body IDA 11718719
genes like me logo Genes that share ontologies with ABCA3: view

Pathways & Interactions for ABCA3 Gene

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

Gene Ontology (GO) - Biological Process for ABCA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IDA,TAS 15531465
GO:0006869 lipid transport IBA --
GO:0042493 response to drug TAS 8706931
GO:0044267 cellular protein metabolic process TAS --
GO:0051384 response to glucocorticoid IEA --
genes like me logo Genes that share ontologies with ABCA3: view

No data available for SIGNOR curated interactions for ABCA3 Gene

Drugs & Compounds for ABCA3 Gene

(6) Drugs for ABCA3 Gene - From: DrugBank, ClinicalTrials, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma Transporter, substrate Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Gleevec Approved May 2001 Pharma 0
Protein C Pharma 115
Pulmonary Surfactants Pharma 107
Respiratory System Agents Pharma 4818

(1) Additional Compounds for ABCA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ABCA3 Gene

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

This gene is overexpressed in Lung (x8.9).

Protein differential expression in normal tissues from HIPED for ABCA3 Gene

This gene is overexpressed in Lung (43.0), Brain (12.4), and Pancreatic juice (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCA3 Gene:

ABCA3

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 expression patterns with ABCA3: view

Primer Products

No data available for Protein tissue co-expression partners for ABCA3 Gene

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 34 35
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia ABCA3 34 35
  • 87.55 (n)
dog
(Canis familiaris)
Mammalia ABCA3 34 35
  • 87.44 (n)
rat
(Rattus norvegicus)
Mammalia Abca3 34
  • 84.6 (n)
mouse
(Mus musculus)
Mammalia Abca3 34 16 35
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCA3 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABCA3 34 35
  • 73.4 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 79 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abca3 34
  • 64.44 (n)
Str.16690 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5193 34
zebrafish
(Danio rerio)
Actinopterygii abca3b 34 35
  • 66.89 (n)
ABCA3 (2 of 2) 35
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5550 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006379 34
  • 52.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1718 36 34 35
  • 51.08 (n)
CG6052 36 35
  • 32 (a)
BG:DS00797.5 36
  • 31 (a)
CG1819 36
  • 26 (a)
CG1494 36
  • 25 (a)
CG8908 36
  • 25 (a)
CG1801 36
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea abt-4 34
  • 48.17 (n)
abt-6 35
  • 45 (a)
OneToOne
ced-7 36
  • 26 (a)
Species where no ortholog for ABCA3 was found in the sources mined by GeneCards:
  • 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
rs121909183 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921], Pathogenic 2,278,348(-) CCTGC(C/T)TTGGG reference, missense
rs121909184 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921], Pathogenic 2,299,442(-) GCCAC(A/G)ACGGT reference, missense
rs28936412 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
rs28936691 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921], Pathogenic 2,278,016(-) GGGGC(A/C)GTTCA reference, missense
VAR_035728 A breast cancer sample

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

Variant ID Type Subtype PubMed ID
nsv984251 CNV duplication 23825009
nsv952902 CNV deletion 24416366
nsv827512 CNV gain 20364138
nsv571202 CNV loss 21841781
nsv571201 CNV loss 21841781
nsv471072 CNV loss 18288195
nsv457353 CNV loss 19166990
nsv1150821 CNV deletion 26484159
nsv1140053 CNV deletion 24896259
nsv1131103 CNV deletion 24896259
nsv1115888 CNV deletion 24896259
nsv1052260 CNV gain 25217958
esv6856 CNV loss 19470904
esv4221 CNV loss 18987735
esv3553009 CNV deletion 23714750
esv2750383 CNV deletion 23290073
esv2750382 CNV deletion 23290073
esv2750381 CNV deletion 23290073
esv2750380 CNV deletion 23290073
esv2750379 CNV deletion 23290073
esv2675164 CNV deletion 23128226
esv2422427 CNV duplication 17116639

Variation tolerance for ABCA3 Gene

Residual Variation Intolerance Score: 6.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA3 Gene

Human Gene Mutation Database (HGMD)
ABCA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA3 Gene

Disorders for ABCA3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ABCA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
surfactant metabolism dysfunction, pulmonary, 3
  • pap
abca3-related pulmonary surfactant metabolism dysfunction
  • congenital pulmonary alveolar proteinosis 3
pulmonary surfactant metabolism dysfunction
  • pulmonary alveolar proteinosis
neonatal respiratory failure
  • respiratory failure of newborn
diffuse pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search ABCA3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ABCA3

Genetic Association Database (GAD)
ABCA3
Human Genome Epidemiology (HuGE) Navigator
ABCA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA3
genes like me logo Genes that share disorders with ABCA3: view

No data available for Genatlas for ABCA3 Gene

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 22 64
  2. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PMID: 18317237) Garmany T.H. … Hamvas A. (Pediatr. Res. 2008) 3 22 46 64
  3. ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID: 15044640) Shulenin S. … Dean M. (N. Engl. J. Med. 2004) 3 4 46 64
  4. 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 22 64
  5. 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 22 64

Products for ABCA3 Gene

Sources for ABCA3 Gene

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