Q8WWZ4 (ABCAA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 84.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ATP-binding cassette sub-family A member 10 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1543 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Probable transporter which may play a role in macrophage lipid homeostasis. |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | Widely expressed. Highly expressed in skeletal muscle, heart, brain and gastrointestinal tract. Ref.1 Ref.2 |
| Induction | Down-regulated by cholesterol loading of macrophages. Ref.2 |
| Sequence similarities | Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| Ligand | ATP-binding Nucleotide-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | ATP catabolic process Inferred from electronic annotation. Source: GOC transportInferred 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: UniProtKB-KW 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: Q8WWZ4-1) 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: Q8WWZ4-2) Also known as: ABCA10delta+82; The sequence of this isoform differs from the canonical sequence as follows: 1-23: Missing. | ||||||
| Isoform 3 (identifier: Q8WWZ4-3) Also known as: ABCA10delta-104; The sequence of this isoform differs from the canonical sequence as follows: 67-67: E → GHNKSFCNGGVDISYWNKYEDTTFHF 68-1543: Missing. | ||||||
| Isoform 4 (identifier: Q8WWZ4-4) Also known as: ABCA10delta-176; The sequence of this isoform differs from the canonical sequence as follows: 450-450: S → KKNYNGIRHAKHSRHYC 451-1543: Missing. | ||||||
| Isoform 5 (identifier: Q8WWZ4-5) The sequence of this isoform differs from the canonical sequence as follows: 413-452: IFFDIYEGQI...LSVSTEGSAT → SEERLCPAAH...PCPAATPSGN 453-1543: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1543 | 1543 | ATP-binding cassette sub-family A member 10 | PRO_0000253572 | |||||
Regions | |||||||||
| Transmembrane | 83 – 103 | 21 | Helical; Potential | ||||||
| Transmembrane | 135 – 155 | 21 | Helical; Potential | ||||||
| Transmembrane | 185 – 205 | 21 | Helical; Potential | ||||||
| Transmembrane | 210 – 230 | 21 | Helical; Potential | ||||||
| Transmembrane | 240 – 260 | 21 | Helical; Potential | ||||||
| Transmembrane | 264 – 284 | 21 | Helical; Potential | ||||||
| Transmembrane | 310 – 330 | 21 | Helical; Potential | ||||||
| Transmembrane | 774 – 794 | 21 | Helical; Potential | ||||||
| Transmembrane | 890 – 910 | 21 | Helical; Potential | ||||||
| Transmembrane | 926 – 946 | 21 | Helical; Potential | ||||||
| Transmembrane | 985 – 1005 | 21 | Helical; Potential | ||||||
| Transmembrane | 1014 – 1034 | 21 | Helical; Potential | ||||||
| Transmembrane | 1046 – 1066 | 21 | Helical; Potential | ||||||
| Transmembrane | 1073 – 1093 | 21 | Helical; Potential | ||||||
| Transmembrane | 1113 – 1133 | 21 | Helical; Potential | ||||||
| Domain | 391 – 626 | 236 | ABC transporter 1 | ||||||
| Domain | 1206 – 1440 | 235 | ABC transporter 2 | ||||||
| Nucleotide binding | 427 – 434 | 8 | ATP 1 Potential | ||||||
| Nucleotide binding | 1239 – 1246 | 8 | ATP 2 Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 23 | 23 | Missing in isoform 2. | VSP_021061 | |||||
| Alternative sequence | 67 | 1 | E → GHNKSFCNGGVDISYWNKYE DTTFHF in isoform 3. | VSP_021062 | |||||
| Alternative sequence | 68 – 1543 | 1476 | Missing in isoform 3. | VSP_021063 | |||||
| Alternative sequence | 413 – 452 | 40 | IFFDI…EGSAT → SEERLCPAAHRLRCGERLCP AAHHLGCEERPCPAATPSGN in isoform 5. | VSP_021064 | |||||
| Alternative sequence | 450 | 1 | S → KKNYNGIRHAKHSRHYC in isoform 4. | VSP_021065 | |||||
| Alternative sequence | 451 – 1543 | 1093 | Missing in isoform 4. | VSP_021066 | |||||
| Alternative sequence | 453 – 1543 | 1091 | Missing in isoform 5. | VSP_021067 | |||||
| Natural variant | 203 | 1 | P → S. Ref.1 Ref.2 Ref.3 Corresponds to variant rs9909216 [ dbSNP | Ensembl ]. | VAR_028384 | |||||
| Natural variant | 287 | 1 | I → V. Ref.1 Ref.2 Ref.3 Corresponds to variant rs11657804 [ dbSNP | Ensembl ]. | VAR_028385 | |||||
| Natural variant | 916 | 1 | M → T. Ref.1 Corresponds to variant rs4968849 [ dbSNP | Ensembl ]. | VAR_028386 | |||||
| Natural variant | 1322 | 1 | R → W. Corresponds to variant rs10491178 [ dbSNP | Ensembl ]. | VAR_055469 | |||||
Experimental info | |||||||||
| Sequence conflict | 140 | 1 | C → Y in CAD89903. Ref.3 | ||||||
| Sequence conflict | 159 | 1 | R → G in CAD89903. Ref.3 | ||||||
| Sequence conflict | 187 | 1 | F → S in CAD89903. Ref.3 | ||||||
| Sequence conflict | 324 | 1 | L → S in CAD89903. Ref.3 | ||||||
| Sequence conflict | 364 | 1 | F → L in CAD89903. Ref.3 | ||||||
| Sequence conflict | 1216 | 1 | R → I in AAO72160. Ref.2 | ||||||
| Sequence conflict | 1216 | 1 | R → I in AAO72161. Ref.2 | ||||||
| Sequence conflict | 1216 | 1 | R → I in AAH51320. Ref.4 | ||||||
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), TISSUE SPECIFICITY, VARIANTS SER-203; VAL-287 AND THR-916. |
| [2] | "ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter." Wenzel J.J., Kaminski W.E., Piehler A., Heimerl S., Langmann T., Schmitz G. Biochem. Biophys. Res. Commun. 306:1089-1098(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS SER-203 AND VAL-287, ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), TISSUE SPECIFICITY, INDUCTION. Tissue: Macrophage. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANTS SER-203 AND VAL-287. Tissue: Skeletal muscle. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1125-1543 (ISOFORMS 1/2). Tissue: Liver and Pancreatic carcinoma. |
| + | Additional computationally mapped references. |
Web resources
| ABCMdb Database for mutations in ABC proteins |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY028900 mRNA. Translation: AAK30025.1. AY247065 mRNA. Translation: AAO72161.1. AY247105 AY247104 Genomic DNA. Translation: AAO72160.1.AL832004 mRNA. Translation: CAD89903.1. AC005495 Genomic DNA. No translation available. BC031026 mRNA. Translation: AAH31026.1. BC051320 mRNA. Translation: AAH51320.1. |
| IPI | IPI00384087. IPI00384874. IPI00789945. IPI00796837. IPI00984335. |
| RefSeq | NP_525021.3. NM_080282.3. |
| UniGene | Hs.25377. |
3D structure databases | |
| ProteinModelPortal | Q8WWZ4. |
| SMR | Q8WWZ4. Positions 396-636, 1218-1460. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8WWZ4. |
Polymorphism databases | |
| DMDM | 296439455. |
Proteomic databases | |
| PaxDb | Q8WWZ4. |
| PRIDE | Q8WWZ4. |
Protocols and materials databases | |
| DNASU | 10349. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000269081; ENSP00000269081; ENSG00000154263. ENST00000416101; ENSP00000407772; ENSG00000154263. ENST00000423818; ENSP00000394639; ENSG00000154263. ENST00000432313; ENSP00000387674; ENSG00000154263. ENST00000522406; ENSP00000429853; ENSG00000154263. ENST00000523512; ENSP00000429945; ENSG00000154263. |
| GeneID | 10349. |
| KEGG | hsa:10349. |
| UCSC | uc010dfa.1. human. |
Organism-specific databases | |
| CTD | 10349. |
| GeneCards | GC17M067144. |
| HGNC | HGNC:30. ABCA10. |
| HPA | HPA014535. |
| MIM | 612508. gene. |
| neXtProt | NX_Q8WWZ4. |
| PharmGKB | PA24374. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1131. |
| HOVERGEN | HBG079884. |
| InParanoid | Q8WWZ4. |
| KO | K05652. |
| OMA | KNNGFWS. |
| OrthoDB | EOG40P45W. |
| PhylomeDB | Q8WWZ4. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | Q8WWZ4. |
| Bgee | Q8WWZ4. |
| CleanEx | HS_ABCA10. |
| Genevestigator | Q8WWZ4. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. [Graphical view] |
| PANTHER | PTHR19229. PTHR19229. 1 hit. |
| Pfam | PF00005. ABC_tran. 2 hits. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. [Graphical view] |
| PROSITE | PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 10349. |
| NextBio | 39243. |
| SOURCE | Search... |
Entry information
| Entry name | ABCAA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WWZ4 Secondary accession number(s): C9JZH2 Q86TD2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
