|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | An intronic ABCA3 mutation that is responsible for respiratory disease. | Agrawal A, etal., Pediatr Res. 2012 Jun;71(6):633-7. doi: 10.1038/pr.2012.21. Epub 2012 Feb 15. |
| 2. | ABCA3 mutations associated with pediatric interstitial lung disease. | Bullard JE, etal., Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23. |
| 3. | Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. | Flamein F, etal., Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | Secretagogues of lung surfactant increase annexin A7 localization with ABCA3 in alveolar type II cells. | Gerelsaikhan T, etal., Biochim Biophys Acta. 2011 Dec;1813(12):2017-25. doi: 10.1016/j.bbamcr.2011.07.022. Epub 2011 Sep 2. |
| 6. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 7. | Lung disease caused by ABCA3 mutations. | Kröner C, etal., Thorax. 2017 Mar;72(3):213-220. doi: 10.1136/thoraxjnl-2016-208649. Epub 2016 Aug 11. |
| 8. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 9. | Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. | Mulugeta S, etal., J Biol Chem. 2002 Jun 21;277(25):22147-55. Epub 2002 Apr 8. |
| 10. | Partial truncation of the NH2-terminus affects physical characteristics and membrane binding, aggregation, and fusion properties of annexin A7. | Naidu DG, etal., Biochim Biophys Acta. 2005 May 15;1734(2):152-68. Epub 2005 Apr 13. |
| 11. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 12. | GOA pipeline | RGD automated data pipeline |
| 13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 15. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 16. | The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China. | Tian W, etal., Pediatr Neonatol. 2016 Jun;57(3):188-94. doi: 10.1016/j.pedneo.2015.09.002. Epub 2015 Oct 27. |
| 17. | Genotype-phenotype correlations for infants and children with ABCA3 deficiency. | Wambach JA, etal., Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC. |
| 18. | Genetic disorders of surfactant homeostasis. | Whitsett JA, etal., Biol Neonate 2005;87(4):283-7. Epub 2005 Jun 1. |
| 19. | Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells. | Yoshida I, etal., Biochem Biophys Res Commun. 2004 Oct 15;323(2):547-55. |
| PMID:11718719 | PMID:12477932 | PMID:14982840 | PMID:15531465 | PMID:22664934 | PMID:22871113 |
| Abca3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ABCA3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ABCA3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ABCA3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ABCA3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ABCA3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Abca3
197 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D10Got27 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D10Got29 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RH132645 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Abca3 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001396034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_001054650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006220590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006246039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039087080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039087081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063268917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC098526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC103090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC088202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000072789 ⟹ ENSRNOP00000064755 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000079700 ⟹ ENSRNOP00000071944 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000106691 ⟹ ENSRNOP00000096646 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000106705 ⟹ ENSRNOP00000088361 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001396034 ⟹ NP_001382963 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_006246039 ⟹ XP_006246101 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_039087080 ⟹ XP_038943008 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039087081 ⟹ XP_038943009 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063268917 ⟹ XP_063124987 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001382963 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006246101 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038943008 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038943009 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063124987 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | A0A0G2K1Q8 | (Get FASTA) | NCBI Sequence Viewer |
| AAH88202 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM03820 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000071944 | ||
| ENSRNOP00000071944.1 |
| RefSeq Acc Id: | XP_006246101 ⟸ XM_006246039 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2K1Q8 (UniProtKB/TrEMBL), A6HCR5 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000071944 ⟸ ENSRNOT00000079700 |
| Ensembl Acc Id: | ENSRNOP00000064755 ⟸ ENSRNOT00000072789 |
| RefSeq Acc Id: | XP_038943009 ⟸ XM_039087081 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_038943008 ⟸ XM_039087080 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2K1Q8 (UniProtKB/Swiss-Prot), A6HCR5 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000088361 ⟸ ENSRNOT00000106705 |
| Ensembl Acc Id: | ENSRNOP00000096646 ⟸ ENSRNOT00000106691 |
| RefSeq Acc Id: | NP_001382963 ⟸ NM_001396034 |
| - UniProtKB: | A0A0G2K1Q8 (UniProtKB/Swiss-Prot), A6HCR5 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063124987 ⟸ XM_063268917 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2K1Q8 (UniProtKB/Swiss-Prot), A6HCR5 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2K1Q8-F1-model_v2 | AlphaFold | A0A0G2K1Q8 | 1-1704 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13697016 | ||||||||
| Promoter ID: | EPDNEW_R7532 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Abca3_1 | ||||||||
| Description: | ATP binding cassette subfamily A member 3 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1307174 | AgrOrtholog |
| BioCyc Gene | G2FUF-25865 | BioCyc |
| Ensembl Genes | ENSRNOG00000050057 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000079700 | ENTREZGENE |
| ENSRNOT00000079700.2 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot |
| InterPro | AAA+_ATPase | UniProtKB/Swiss-Prot |
| ABC2_TM | UniProtKB/Swiss-Prot | |
| ABC_transporter-like | UniProtKB/Swiss-Prot | |
| ABC_transporter_CS | UniProtKB/Swiss-Prot | |
| ABCA | UniProtKB/Swiss-Prot | |
| P-loop_NTPase | UniProtKB/Swiss-Prot | |
| R2_ABCA1-4-like | UniProtKB/Swiss-Prot | |
| NCBI Gene | 302973 | ENTREZGENE |
| PANTHER | ABC TRANSPORTER DOMAIN-CONTAINING PROTEIN-RELATED | UniProtKB/Swiss-Prot |
| PTHR19229 | UniProtKB/Swiss-Prot | |
| Pfam | ABC2_membrane_3 | UniProtKB/Swiss-Prot |
| ABC_tran | UniProtKB/Swiss-Prot | |
| R1_ABCA1 | UniProtKB/Swiss-Prot | |
| PhenoGen | Abca3 | PhenoGen |
| PROSITE | ABC_TRANSPORTER_1 | UniProtKB/Swiss-Prot |
| ABC_TRANSPORTER_2 | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000050057 | RatGTEx |
| SMART | AAA | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot |
| UniProt | A0A0G2K1Q8 | ENTREZGENE |
| A0A8I6AIR0_RAT | UniProtKB/TrEMBL | |
| A0A8I6AQZ2_RAT | UniProtKB/TrEMBL | |
| A6HCR5 | ENTREZGENE, UniProtKB/TrEMBL | |
| ABCA3_RAT | UniProtKB/Swiss-Prot | |
| Q5M866_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-12-09 | Abca3 | ATP binding cassette subfamily A member 3 | Abca3 | ATP-binding cassette, subfamily A (ABC1), member 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2010-11-16 | Abca3 | ATP-binding cassette, subfamily A (ABC1), member 3 | Abca3 | ATP-binding cassette, sub-family A (ABC1), member 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-12-06 | Abca3 | ATP-binding cassette, sub-family A (ABC1), member 3 | Abca3_predicted | ATP-binding cassette, sub-family A (ABC1), member 3 (predicted) | Symbol and Name updated | 1559027 | APPROVED |
| 2005-01-12 | Abca3_predicted | ATP-binding cassette, sub-family A (ABC1), member 3 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |