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UniProtKB/Swiss-Prot Q8IUA7 (ABCA9_HUMAN)
Last modified
November 25, 2008.
Version 41.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: ATP-binding cassette sub-family A member 9 | ||
| 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 | 1624 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May play a role in monocyte differentiation and lipid homeostasis. |
| Subcellular location | Membrane; Multi-pass membrane proteinPotential. |
| Tissue specificity | Widely expressed with higher expression in heart. |
| Developmental stage | Expressed in fetal tissues with higher expression in fetal heart and kidney. |
| Induction | Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. |
| Sequence similarities | Belongs to the ABC transporter family. ABCA subfamily. Contains 2 ABC transporter domains. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane |
| Ligand | ATP-binding Nucleotide-binding |
| PTM | Glycoprotein Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | ATP binding Inferred from electronic annotation. Source: InterPro ATPase activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IUA7-1) 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: Q8IUA7-2) Also known as: ABCA9delta+55; The sequence of this isoform differs from the canonical sequence as follows: 267-1624: Missing. | ||||||
| Isoform 3 (identifier: Q8IUA7-3) Also known as: ABCA9delta+73; The sequence of this isoform differs from the canonical sequence as follows: 1429-1429: L → VRAGLVVALQVP 1430-1624: Missing. | ||||||
| Isoform 4 (identifier: Q8IUA7-4) Also known as: ABCA9delta-95; The sequence of this isoform differs from the canonical sequence as follows: 1429-1429: L → AGDSGHL 1430-1624: Missing. | ||||||
| Isoform 5 (identifier: Q8IUA7-5) The sequence of this isoform differs from the canonical sequence as follows: 268-1624: Missing. | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1624 | 1624 | ATP-binding cassette sub-family A member 9 | PRO_0000250680 | |||||
Regions | |||||||||
| Transmembrane | 31 – 51 | 21 | Potential | ||||||
| Transmembrane | 221 – 243 | 23 | Potential | ||||||
| Transmembrane | 269 – 289 | 21 | Potential | ||||||
| Transmembrane | 300 – 320 | 21 | Potential | ||||||
| Transmembrane | 329 – 349 | 21 | Potential | ||||||
| Transmembrane | 354 – 374 | 21 | Potential | ||||||
| Transmembrane | 398 – 418 | 21 | Potential | ||||||
| Transmembrane | 864 – 884 | 21 | Potential | ||||||
| Transmembrane | 1026 – 1046 | 21 | Potential | ||||||
| Transmembrane | 1065 – 1085 | 21 | Potential | ||||||
| Transmembrane | 1108 – 1128 | 21 | Potential | ||||||
| Transmembrane | 1136 – 1156 | 21 | Potential | ||||||
| Transmembrane | 1163 – 1183 | 21 | Potential | ||||||
| Transmembrane | 1200 – 1220 | 21 | Potential | ||||||
| Domain | 481 – 716 | 236 | ABC transporter 1 | ||||||
| Domain | 1288 – 1521 | 234 | ABC transporter 2 | ||||||
| Nucleotide binding | 517 – 524 | 8 | ATP 1 Potential | ||||||
| Nucleotide binding | 1326 – 1333 | 8 | ATP 2 Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 113 | 1 | Phosphoserine By similarity | ||||||
| Glycosylation | 120 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 195 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 267 – 1624 | 1358 | Missing in isoform 2. | VSP_020705 | |||||
| Alternative sequence | 268 – 1624 | 1357 | Missing in isoform 5. | VSP_020706 | |||||
| Alternative sequence | 1429 | 1 | L → VRAGLVVALQVP in isoform 3. | VSP_020707 | |||||
| Alternative sequence | 1429 | 1 | L → AGDSGHL in isoform 4. | VSP_020708 | |||||
| Alternative sequence | 1430 – 1624 | 195 | Missing in isoform 3 and isoform 4. | VSP_020709 | |||||
| Natural variant | 353 | 1 | R → H: dbSNP rs1860447. | VAR_027594 | |||||
| Natural variant | 785 | 1 | N → S: dbSNP rs17684521. | VAR_027595 | |||||
| Natural variant | 1306 | 1 | K → T: dbSNP rs2302294. | VAR_027596 | |||||
| Natural variant | 1356 | 1 | G → S: dbSNP rs9916254. | VAR_027597 | |||||
Experimental info | |||||||||
| Sequence conflict | 1430 | 1 | C → R in AAK30024. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily." Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M. GeneScreen 1:157-164(2001) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HIS-353 AND THR-1306, TISSUE SPECIFICITY. |
| [2] | "Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9." Piehler A., Kaminski W.E., Wenzel J.J., Langmann T., Schmitz G. Biochem. Biophys. Res. Commun. 295:408-416(2002) [PubMed: 12150964] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), FUNCTION, INDUCTION, DEVELOPMENTAL STAGE. Tissue: Macrophage. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-856 (ISOFORM 1), VARIANT HIS-353. Tissue: Embryo and Small intestine. |
Cross-references
Sequence databases | |
|---|---|
| AY028899 mRNA. Translation: AAK30024.1. AF423307 mRNA. Translation: AAN32751.1. AF423346 AF423345 Genomic DNA. Translation: AAN32752.1. BC062472 mRNA. Translation: AAH62472.1. Different initiation. AK057068 mRNA. Translation: BAB71359.1. AK074491 mRNA. Translation: BAC11021.1. Different initiation. | |
| RefSeq | NP_525022.2. |
| UniGene | Hs.131686 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8IUA7. |
Genome annotation databases | |
| Ensembl | ENSG00000154258. Homo sapiens. [Contig view] |
| GeneID | 10350. |
| KEGG | hsa:10350. |
Organism-specific databases | |
| HGNC | HGNC:39. ABCA9. |
| PharmGKB | PA24384. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogeno | |

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