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UniProtKB/Swiss-Prot Q9BZC7 (ABCA2_HUMAN)
Last modified
September 23, 2008.
Version 61.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: ATP-binding cassette sub-family A member 2 Alternative name(s): ATP-binding cassette transporter 2 Short name=ATP-binding cassette 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2435 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development. |
| Subcellular location | Membrane; Multi-pass membrane proteinPotential. |
| Sequence similarities | Belongs to the ABC transporter family. ABCA subfamily. Contains 2 ABC transporter domains. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | |||||
| Isoform 1 (identifier: Q9BZC7-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | |||||
| Isoform 2 (identifier: Q9BZC7-2) The sequence of this isoform differs from the canonical sequence as follows: 2059-2090: YKSRKIGRILAVDRLCLGVRPGECFGLLGVNG → GSGHVGWGLGGVGQGQGGGAPAVEVEPGWAGP 2091-2435: Missing. | |||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2435 | 2435 | ATP-binding cassette sub-family A member 2 | |||||
Regions | ||||||||
| Transmembrane | 22 – 42 | 21 | Potential | |||||
| Transmembrane | 54 – 74 | 21 | Potential | |||||
| Transmembrane | 699 – 719 | 21 | Potential | |||||
| Transmembrane | 750 – 770 | 21 | Potential | |||||
| Transmembrane | 782 – 802 | 21 | Potential | |||||
| Transmembrane | 813 – 833 | 21 | Potential | |||||
| Transmembrane | 857 – 877 | 21 | Potential | |||||
| Transmembrane | 893 – 913 | 21 | Potential | |||||
| Transmembrane | 1456 – 1476 | 21 | Potential | |||||
| Transmembrane | 1792 – 1812 | 21 | Potential | |||||
| Transmembrane | 1841 – 1861 | 21 | Potential | |||||
| Transmembrane | 1872 – 1892 | 21 | Potential | |||||
| Transmembrane | 1905 – 1925 | 21 | Potential | |||||
| Transmembrane | 1991 – 2011 | 21 | Potential | |||||
| Domain | 990 – 1221 | 232 | ABC transporter 1 | |||||
| Domain | 2050 – 2285 | 236 | ABC transporter 2 | |||||
| Nucleotide binding | 1024 – 1031 | 8 | ATP 1 Potential | |||||
| Nucleotide binding | 2087 – 2094 | 8 | ATP 2 Potential | |||||
Amino acid modifications | ||||||||
| Modified residue | 1327 | 1 | Phosphoserine | |||||
| Modified residue | 1331 | 1 | Phosphoserine | |||||
| Glycosylation | 14 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 89 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 168 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 173 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 305 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 368 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 379 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 420 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 432 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 476 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 484 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 494 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 530 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 544 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 590 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 600 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 628 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1408 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1496 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1549 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1557 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1612 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1677 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 1775 | 1 | N-linked (GlcNAc...) Potential | |||||
| Glycosylation | 2054 | 1 | N-linked (GlcNAc...) Potential | |||||
Natural variations | ||||||||
| Alternative sequence | 2059 – 2090 | 32 | YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2. | |||||
| Alternative sequence | 2091 – 2435 | 345 | Missing in isoform 2. | |||||
| Natural variant | 583 | 1 | H → P: dbSNP rs908828. | |||||
| Natural variant | 674 | 1 | F → V: dbSNP rs2090625. | |||||
Experimental info | ||||||||
| Sequence conflict | 54 | 1 | A → VP in AAK14335. Ref.1 | |||||
| Sequence conflict | 2079 | 1 | P → L in AAK14335. Ref.1 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages." Kaminski W.E., Piehler A., Pullmann K., Porsch-Oezcueruemez M., Duong C., Bared G.M., Buchler C., Schmitz G. Biochem. Biophys. Res. Commun. 281:249-258(2001) [PubMed: 11178988] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-583. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed: 10470851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 651-2435 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 665-2435 (ISOFORM 1). Tissue: Brain. |
| [4] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [5] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1327 AND SER-1331, MASS SPECTROMETRY. Tissue: Epithelium. |
| + | Additional computationally mapped references. |

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