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Aliases & Descriptions for ABCA3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ABC-C 1, 2 | | ABC3 2, 3, 5 | | EST111653 1, 2 | | LBM180 1, 2 | | MGC166979 2 | | MGC72201 2 | | SMDP3 2, 5 |
| | | Descriptions |
|---|
| ABC transporter 3 2 | | ABC-C transporter 3 | | ATP-binding cassette 3 3 | | ATP-binding cassette transporter 3 3 | | ATP-binding cassette, sub-family A (ABC1), member 3 2 | | ATP-binding cassette, sub-family A member 3 2 | | ATP-binding cassette, sub-family A, member 3 1 |
|
| | Search outside databases for aliases for ABCA3 genePrevious GC identifers: GC16P002406 GC16M002351 |
Summaries for ABCA3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ABCA3: 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] UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758Function: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterolGene Wiki entry for ABCA3 |
Genomic Location for ABCA3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ABCA3 gene 
Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3ABCA3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M002265:
(about GC identifiers)
Start:
|
2,265,880 bp from pter |
End:
|
2,330,748 bp from pter |
Size:
|
64,869 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000016.8 NT_037887.4
| Proteins for ABCA3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family A member 3 Size: 1704 amino acids; 191362 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q54A95 Q92473Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001080.2
ENSEMBL proteins: ENSP00000301732 ENSP00000371818
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ABCA3: Assays for ABCA3: | Protein
Domains/ Families for ABCA3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q99758
ProtoNet protein and cluster: Q99758 UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758Domain: Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain (By similarity)Similarity: Belongs to the ABC transporter family. ABCA subfamilySimilarity: Contains 2 ABC transporter domains | Gene Function for ABCA3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001089
Applied Biosystems Silencer® siRNAs for ABCA3
Sigma-Aldrich siRNA and siRNA Panels for ABCA3  Sigma-Aldrich shRNA for ABCA3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001089                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001089                                  untagged cDNA clone in CMV expression vector: NM_001089 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001089
UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758Function: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterolGenatlas biochemistry entry for ABCA3:ATP binding cassette superfamily,subfamily A,member 3,involved in resistance to xenobiotics,mouse ABC2 (mu ABC2) homolog,highly expressed in lung,brain,heart,pancreas6 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Abca3):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ABCA3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for ABCA3 
5/9 Interacting proteins for ABCA3 (ENSP000003718183) via UniProtKB, MINT, and/or STRING (see all 9
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ABCA3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ABCA3 2 Novoseek chemical compound relationships for ABCA3 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| atp |
28.06 |
1 |
15465012 (1) |
| lipid |
0.00 |
1 |
16847209 (1) |
About this table
|
Transcripts for ABCA3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001089
Sigma-Aldrich siRNA and siRNA Panels for ABCA3  Sigma-Aldrich shRNA for ABCA3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001089 REFSEQ mRNAs for ABCA3 gene: NM_001089.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001089               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001089                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001089                                  untagged cDNA clone in CMV expression vector: NM_001089  Additional cDNA sequence: AB070929.1 AB210044.1 AK310864.1 BC020724.1 BC035752.1 BC062779.1 BC140895.1 BC146866.1 BC151840.1 U66675.1 U78735.1 X97187.1 9 DOTS entries: DT.415038 DT.97822342 DT.97797548 DT.95163281 DT.97846373 DT.120688009 DT.95163280 DT.91743399 DT.95163277 24/35 AceView cDNA sequences (see all 35
):BE669619 X97187 AB070929 BE669421 BE251915 BC035752 NM_001089 BC020724 BC062779 U78735 AA351351 AW450470 BX372615 BQ328862 BX101771 BE671452 BM990801 BU856049 BF090334 BF091460 AW295642 BF923714 AW900257 T05334
highest scoring ESTs for ABCA3:U78735 AA351351 AB070929 AW296862 AW450470 BE251915 BF851463 BF923714 NM_001089 X97187 Unigene Cluster for ABCA3: ATP-binding cassette, sub-family A (ABC1), member 3 Hs.26630 [show with all ESTs]Unigene Representative Sequence: NM_001089
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA3
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ABCA3
2 Ensembl transcripts including schematic representations: ENST00000301732
ENST00000382381
|
Expression for ABCA3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ABCA3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ABCA3
1 / 2 / 3 3 probe-sets matching ABCA3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTCAAAAAA
SOURCE GeneReport for Unigene cluster: Hs.26630
Expression variation in blood from EXPOLDB for ABCA3 UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758Tissue 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 |
Orthologs for ABCA3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ABCA3 gene from 5/12 species (see all 12
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ABCA31 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 3 |
86.54(n) 88.07(a) |
479879 XM_537004.2 XP_537004.2 |
chimpanzee (Pan troglodytes) |
ABCA31 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 3 |
99.24(n) 99.59(a) |
453833 XM_510744.2 XP_510744.2 |
cow (Bos taurus) |
ABCA31 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 3 |
87.55(n) 89.14(a) |
505787 XM_582132.3 XP_582132.3 |
rat (Rattus norvegicus) |
Abca31 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 3 |
84.69(n) 88.19(a) |
302973 XM_220219.4 XP_220219.4 |
mouse (Mus musculus) |
Abca31, 5 |
175
|
ATP-binding cassette, sub-family A (ABC1), member 31, 5 |
84.49(n)1 88.09(a)1 |
274101 NM_001039581.11 NP_001034670.11 AA1549975 AF2133945 (see all 24) |
About this table Species with no ortholog for ABCA3
ENSEMBL Gene Tree for ABCA3 | Paralogs for ABCA3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for ABCA3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ABCA3 (up to first 250kb)
|
Disorders & Mutations for ABCA3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 601615 disorders: 610921 UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular non-specific interstitial pneumonitis (NSIP)1 Novoseek disease relationship for ABCA3 gene
About this table
Human Gene Mutation Database: ABCA3 Genetic Association Database: ABCA3 Human Genome Epidemiology Navigator: ABCA3 (4 documents)
|
Medical News for ABCA3(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for ABCA3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/37 PubMed articles for ABCA3 gene (see all 37
):- Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. (PubMed id 8706931)1, 2, 3, 4 Klugbauer N. and Hofmann F. (1996)
- ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PubMed id 15044640)3, 4, 6 Shulenin S.... Dean M. (2004)
- ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. (PubMed id 11718719)1, 3, 4 Yamano G.... Inagaki N. (2001)
- The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. (PubMed id 9027511)1, 3, 4 Connors T.D....Burn T.C. (1997)
- ABCA3 mutations associated with pediatric interstitial lung disease. (PubMed id 15976379)3, 6 Bullard J.E....Nogee L.M. (2005)
- Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. (PubMed id 15465012)1, 3 Nagata K....Ueda K. (2004)
- Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PubMed id 18317237)1, 3 Garmany T.H....Hamvas A. (2008)
- ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn. (PubMed id 19252731)1, 3 Anandarajan M....Tubman R. (2009)
- Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)3 Saito A....Kamatani N. (2009)
- Cerebropulmonary dysgenetic syndrome. (PubMed id 18603241)3 Shanklin D.R....Baldwin H.S. (2008)
|
Search for ABCA3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ABCA3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ABCA3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCA3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=ABCA3 | | SeattleSNPs | http://pga.gs.washington.edu/data/abca3/ |
|
| | | About This Section
| --
| Services for ABCA3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ABCA3:

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Incremental update: 13 Oct 2009
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