Q8WWZ7 (ABCA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
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 5 | ||||
| Gene names |
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| 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 | 1642 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May play a role in the processing of autolysosomes By similarity. |
| Subcellular location | Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta. Ref.1 Ref.2 |
| Developmental stage | Expressed in fetal liver, kidney and brain. Ref.1 |
| Post-translational modification | N-glycosylated By similarity. |
| Sequence similarities | Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains. |
| Sequence caution | The sequence BAB71700.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WWZ7-1) 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: Q8WWZ7-2) Also known as: V20+16; The sequence of this isoform differs from the canonical sequence as follows: 922-925: DSDI → GESV 926-1642: Missing. | ||||||
| Isoform 3 (identifier: Q8WWZ7-3) The sequence of this isoform differs from the canonical sequence as follows: 1-777: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1642 | 1642 | ATP-binding cassette sub-family A member 5 | PRO_0000250669 | |||||
Regions | |||||||||
| Transmembrane | 32 – 52 | 21 | Helical; Potential | ||||||
| Transmembrane | 220 – 240 | 21 | Helical; Potential | ||||||
| Transmembrane | 264 – 284 | 21 | Helical; Potential | ||||||
| Transmembrane | 297 – 317 | 21 | Helical; Potential | ||||||
| Transmembrane | 328 – 348 | 21 | Helical; Potential | ||||||
| Transmembrane | 355 – 375 | 21 | Helical; Potential | ||||||
| Transmembrane | 396 – 416 | 21 | Helical; Potential | ||||||
| Transmembrane | 866 – 886 | 21 | Helical; Potential | ||||||
| Transmembrane | 967 – 987 | 21 | Helical; Potential | ||||||
| Transmembrane | 1021 – 1041 | 21 | Helical; Potential | ||||||
| Transmembrane | 1071 – 1091 | 21 | Helical; Potential | ||||||
| Transmembrane | 1102 – 1122 | 21 | Helical; Potential | ||||||
| Transmembrane | 1139 – 1159 | 21 | Helical; Potential | ||||||
| Transmembrane | 1169 – 1189 | 21 | Helical; Potential | ||||||
| Transmembrane | 1207 – 1227 | 21 | Helical; Potential | ||||||
| Domain | 478 – 713 | 236 | ABC transporter 1 | ||||||
| Domain | 1290 – 1533 | 244 | ABC transporter 2 | ||||||
| Nucleotide binding | 514 – 521 | 8 | ATP 1 Potential | ||||||
| Nucleotide binding | 1333 – 1340 | 8 | ATP 2 Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 86 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 458 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 996 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 777 | 777 | Missing in isoform 3. | VSP_020690 | |||||
| Alternative sequence | 922 – 925 | 4 | DSDI → GESV in isoform 2. | VSP_020691 | |||||
| Alternative sequence | 926 – 1642 | 717 | Missing in isoform 2. | VSP_020692 | |||||
| Natural variant | 93 | 1 | Q → K. Corresponds to variant rs12383 [ dbSNP | Ensembl ]. | VAR_027571 | |||||
| Natural variant | 178 | 1 | A → T. Ref.2 Corresponds to variant rs11544715 [ dbSNP | Ensembl ]. | VAR_048128 | |||||
| Natural variant | 484 | 1 | Q → R. Ref.2 Corresponds to variant rs17686569 [ dbSNP | Ensembl ]. | VAR_027572 | |||||
| Natural variant | 753 | 1 | M → V. Corresponds to variant rs9898003 [ dbSNP | Ensembl ]. | VAR_027573 | |||||
| Natural variant | 832 | 1 | A → S. Ref.1 Ref.2 Ref.3 Corresponds to variant rs536009 [ dbSNP | Ensembl ]. | VAR_027574 | |||||
| Natural variant | 960 | 1 | M → V. Ref.4 Corresponds to variant rs557491 [ dbSNP | Ensembl ]. | VAR_027575 | |||||
| Natural variant | 1260 | 1 | D → G. Corresponds to variant rs11544716 [ dbSNP | Ensembl ]. | VAR_048129 | |||||
Experimental info | |||||||||
| Sequence conflict | 1215 | 1 | Y → H in BAB71208. Ref.3 | ||||||
| Sequence conflict | 1357 | 1 | V → I in CAB93535. Ref.2 | ||||||
| Sequence conflict | 1366 | 1 | T → S in CAB93535. Ref.2 | ||||||
| Sequence conflict | 1371 | 1 | D → G in BAB71208. Ref.3 | ||||||
| Sequence conflict | 1419 | 1 | A → G in BAB71208. Ref.3 | ||||||
| Sequence conflict | 1523 | 1 | K → R in BAB71208. Ref.3 | ||||||
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), VARIANT SER-832, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Testis. |
| [2] | "Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant." Petry F., Kotthaus A., Hirsch-Ernst K.I. Biochem. Biophys. Res. Commun. 300:343-350(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS THR-178; ARG-484 AND SER-832. Tissue: Hepatoma and Testis. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1642 (ISOFORM 1), VARIANT SER-832. Tissue: Teratocarcinoma and Testis. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 906-1642 (ISOFORM 1), VARIANT VAL-960. Tissue: Brain. |
| + | Additional computationally mapped references. |
Web resources
| ABCMdb Database for mutations in ABC proteins |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY028897 mRNA. Translation: AAK30022.1. AJ275973 mRNA. Translation: CAB93535.3. AJ512612 mRNA. Translation: CAD54757.1. AK056533 mRNA. Translation: BAB71208.1. AK058170 mRNA. Translation: BAB71700.1. Different initiation. AB067475 mRNA. Translation: BAB67781.1. |
| IPI | IPI00292012. IPI00786993. IPI00788065. |
| RefSeq | NP_061142.2. NM_018672.3. NP_758424.1. NM_172232.2. |
| UniGene | Hs.731824. |
3D structure databases | |
| ProteinModelPortal | Q8WWZ7. |
| SMR | Q8WWZ7. Positions 478-702, 1288-1528. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WWZ7. 2 interactions. |
| STRING | 9606.ENSP00000319766. |
PTM databases | |
| PhosphoSite | Q8WWZ7. |
Polymorphism databases | |
| DMDM | 115503762. |
Proteomic databases | |
| PaxDb | Q8WWZ7. |
| PRIDE | Q8WWZ7. |
Protocols and materials databases | |
| DNASU | 23461. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000392676; ENSP00000376443; ENSG00000154265. ENST00000588877; ENSP00000467882; ENSG00000154265. |
| GeneID | 23461. |
| KEGG | hsa:23461. |
| UCSC | uc002jib.2. human. uc002jic.2. human. uc002jih.2. human. |
Organism-specific databases | |
| CTD | 23461. |
| GeneCards | GC17M067240. |
| HGNC | HGNC:35. ABCA5. |
| HPA | HPA022032. |
| MIM | 612503. gene. |
| neXtProt | NX_Q8WWZ7. |
| PharmGKB | PA24380. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1131. |
| HOGENOM | HOG000231057. |
| HOVERGEN | HBG079884. |
| KO | K05648. |
| PhylomeDB | Q8WWZ7. |
Gene expression databases | |
| ArrayExpress | Q8WWZ7. |
| Bgee | Q8WWZ7. |
| CleanEx | HS_ABCA5. |
| Genevestigator | Q8WWZ7. |
| GermOnline | ENSG00000154265. Homo sapiens. |
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 | |
| ChiTaRS | ABCA5. human. |
| GenomeRNAi | 23461. |
| NextBio | 45765. |
| SOURCE | Search... |
Entry information
| Entry name | ABCA5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WWZ7 Secondary accession number(s): Q8IVJ2 Q9NY14 | ||||||||
| Entry history |
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| 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
