Q9Y2Q0 (AT8A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 108.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Probable phospholipid-transporting ATPase IA EC=3.6.3.1 Alternative name(s): ATPase class I type 8A member 1 Chromaffin granule ATPase II | ||||
| Gene names |
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| 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 | 1164 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and the maintenance of asymmetric distribution of phospholipids, mainly in secretory vesicles. |
| Catalytic activity | ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(Out). |
| Subcellular location | Cytoplasmic vesicle › secretory vesicle › chromaffin granule membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform 1 is only detected in brain, skeletal muscle and heart and is the most abundant form in skeletal muscle. |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. [View classification] |
| Sequence caution | The sequence AAI09318.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA77248.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y2Q0-1) Also known as: Long; 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: Q9Y2Q0-2) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 433-447: Missing. | ||||||
| Isoform 3 (identifier: Q9Y2Q0-3) The sequence of this isoform differs from the canonical sequence as follows: 152-171: AVGEIVKVTNGEHLPADLIS → NVGDIVIIKGKEYIPADTVL 433-447: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1164 | 1164 | Probable phospholipid-transporting ATPase IA | PRO_0000046360 | |||||
Regions | |||||||||
| Topological domain | 1 – 65 | 65 | Cytoplasmic Potential | ||||||
| Transmembrane | 66 – 86 | 21 | Helical; Potential | ||||||
| Topological domain | 87 – 92 | 6 | Extracellular Potential | ||||||
| Transmembrane | 93 – 115 | 23 | Helical; Potential | ||||||
| Topological domain | 116 – 297 | 182 | Cytoplasmic Potential | ||||||
| Transmembrane | 298 – 319 | 22 | Helical; Potential | ||||||
| Topological domain | 320 – 344 | 25 | Extracellular Potential | ||||||
| Transmembrane | 345 – 366 | 22 | Helical; Potential | ||||||
| Topological domain | 367 – 857 | 491 | Cytoplasmic Potential | ||||||
| Transmembrane | 858 – 878 | 21 | Helical; Potential | ||||||
| Topological domain | 879 – 890 | 12 | Extracellular Potential | ||||||
| Transmembrane | 891 – 910 | 20 | Helical; Potential | ||||||
| Topological domain | 911 – 940 | 30 | Cytoplasmic Potential | ||||||
| Transmembrane | 941 – 962 | 22 | Helical; Potential | ||||||
| Topological domain | 963 – 976 | 14 | Extracellular Potential | ||||||
| Transmembrane | 977 – 999 | 23 | Helical; Potential | ||||||
| Topological domain | 1000 – 1005 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 1006 – 1026 | 21 | Helical; Potential | ||||||
| Topological domain | 1027 – 1044 | 18 | Extracellular Potential | ||||||
| Transmembrane | 1045 – 1070 | 26 | Helical; Potential | ||||||
| Topological domain | 1071 – 1164 | 94 | Cytoplasmic Potential | ||||||
| Nucleotide binding | 741 – 748 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1095 – 1102 | 8 | ATP Potential | ||||||
Sites | |||||||||
| Active site | 409 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 801 | 1 | Magnesium By similarity | ||||||
| Metal binding | 805 | 1 | Magnesium By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 9 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 25 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 28 | 1 | Phosphothreonine Ref.5 | ||||||
| Modified residue | 29 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 269 | 1 | Phosphotyrosine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 152 – 171 | 20 | AVGEI…ADLIS → NVGDIVIIKGKEYIPADTVL in isoform 3. | VSP_040977 | |||||
| Alternative sequence | 433 – 447 | 15 | Missing in isoform 2 and isoform 3. | VSP_000431 | |||||
| Natural variant | 673 | 1 | T → M. Corresponds to variant rs3792687 [ dbSNP | Ensembl ]. | VAR_022003 | |||||
Experimental info | |||||||||
| Sequence conflict | 364 | 1 | E → K in BAA77248. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, expression, and chromosomal mapping of a human ATPase II gene, member of the third subfamily of P-type ATPases and orthologous to the presumed bovine and murine aminophospholipid translocase." Mouro I., Halleck M.S., Schlegel R.A., Mattei M.-G., Williamson P.L., Zachowski A., Devaux P., Cartron J.-P., Colin Y. Biochem. Biophys. Res. Commun. 257:333-339(1999) [PubMed: 10198212] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Skeletal muscle. |
| [2] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "cDNA cloning of human ATPaseII." Osada S., Nakanishi Y. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-1164 (ISOFORM 1). Tissue: Brain. |
| [4] | "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] OF 3-1164 (ISOFORM 3). |
| [5] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25; THR-28 AND SER-29, MASS SPECTROMETRY. Tissue: Platelet. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF067820 mRNA. Translation: AAD34706.1. AC084010 Genomic DNA. Translation: AAY40980.1. AC096734 Genomic DNA. Translation: AAY40924.1. AC110788 Genomic DNA. No translation available. AC139717 Genomic DNA. No translation available. AB013452 mRNA. Translation: BAA77248.1. Different initiation. BC109317 mRNA. Translation: AAI09318.1. Different initiation. |
| IPI | IPI00032402. IPI00221038. IPI00941654. |
| RefSeq | NP_001098999.1. NM_001105529.1. NP_006086.1. NM_006095.2. |
| UniGene | Hs.435052. |
3D structure databases | |
| ProteinModelPortal | Q9Y2Q0. |
| SMR | Q9Y2Q0. Positions 779-861. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9Y2Q0. |
PTM databases | |
| PhosphoSite | Q9Y2Q0. |
Polymorphism databases | |
| DMDM | 8134331. |
Proteomic databases | |
| PRIDE | Q9Y2Q0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000264449; ENSP00000264449; ENSG00000124406. ENST00000381668; ENSP00000371084; ENSG00000124406. |
| GeneID | 10396. |
| KEGG | hsa:10396. |
| UCSC | uc003gwr.2. human. |
Organism-specific databases | |
| CTD | 10396. |
| GeneCards | GC04M042325. |
| HGNC | HGNC:13531. ATP8A1. |
| MIM | 609542. gene. |
| neXtProt | NX_Q9Y2Q0. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00570000078774. |
| HOGENOM | HBG745019. |
| HOVERGEN | HBG050601. |
| InParanoid | Q9Y2Q0. |
| OMA | PAIPMAP. |
| OrthoDB | EOG4V9TPV. |
| PhylomeDB | Q9Y2Q0. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | Q9Y2Q0. |
| Bgee | Q9Y2Q0. |
| CleanEx | HS_ATP8A1. |
| Genevestigator | Q9Y2Q0. |
| GermOnline | ENSG00000124406. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR023306. ATPase_cation_domN. IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR023300. ATPase_P-typ_cyto_domA. IPR023299. ATPase_P-typ_cyto_domN. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006539. ATPase_P-typ_Plipid-transl. IPR023214. HAD-like_dom. [Graphical view] |
| Gene3D | G3DSA:2.70.150.10. ATPase_P-typ_cyto_domA. 2 hits. G3DSA:3.40.1110.10. ATPase_P-typ_cyto_domN. 1 hit. G3DSA:3.40.50.1000. HAD-like_dom. 2 hits. |
| KO | K14802. |
| Pfam | PF00122. E1-E2_ATPase. 1 hit. [Graphical view] |
| PRINTS | PR00119. CATATPASE. |
| SUPFAM | SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit. |
| TIGRFAMs | TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 3 hits. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00144. Phosphatidylserine. |
| NextBio | 39390. |
| SOURCE | Search... |
Entry information
| Entry name | AT8A1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y2Q0 Secondary accession number(s): Q32M36, Q4W5J7, Q4W5P2 | ||||||||
| 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 4 Human chromosome 4: 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