Reviewed,
UniProtKB/Swiss-Prot Q9NQ11 (AT132_HUMAN)
Last modified
February 9, 2010.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Probable cation-transporting ATPase 13A2 EC=3.6.3.- | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 1180 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Catalytic activity | ATP + H2O = ADP + phosphate. |
| Subcellular location | Membrane; Multi-pass membrane protein By similarity. |
| Involvement in disease | Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]; also known as Parkinson disease type 9 (PARK9). KRS is a rare hereditary disease with juvenile onset. In addition to typical signs of Parkinson disease, affected individuals show symptoms of more widespread neurodegeneration, including dementia. Ref.6 |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) family. Type V subfamily. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Parkinsonism |
| Domain | Transmembrane |
| Ligand | ATP-binding Magnesium Metal-binding Nucleotide-binding |
| Molecular function | Hydrolase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | ATP biosynthetic process Inferred from electronic annotation. Source: InterPro cation transportInferred from electronic annotation. Source: InterPro |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismInferred from electronic annotation. Source: InterPro magnesium ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q9NQ11-1) 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 B (identifier: Q9NQ11-2) The sequence of this isoform differs from the canonical sequence as follows: 155-159: Missing. 805-843: Missing. 1079-1180: VPFLVALALL...WPPLPAGPLR → ERARPVPPRL...PPPWGSVDYC | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1180 | 1180 | Probable cation-transporting ATPase 13A2 | PRO_0000046423 | |||||
Regions | |||||||||
| Topological domain | 1 – 12 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 13 – 34 | 22 | Potential | ||||||
| Topological domain | 35 – 45 | 11 | Extracellular Potential | ||||||
| Transmembrane | 46 – 66 | 21 | Potential | ||||||
| Topological domain | 67 – 230 | 164 | Cytoplasmic Potential | ||||||
| Transmembrane | 231 – 253 | 23 | Potential | ||||||
| Topological domain | 254 – 256 | 3 | Extracellular Potential | ||||||
| Transmembrane | 257 – 276 | 20 | Potential | ||||||
| Topological domain | 277 – 425 | 149 | Cytoplasmic Potential | ||||||
| Transmembrane | 426 – 445 | 20 | Potential | ||||||
| Topological domain | 446 – 459 | 14 | Extracellular Potential | ||||||
| Transmembrane | 460 – 480 | 21 | Potential | ||||||
| Topological domain | 481 – 932 | 452 | Cytoplasmic Potential | ||||||
| Transmembrane | 933 – 952 | 20 | Potential | ||||||
| Topological domain | 953 – 963 | 11 | Extracellular Potential | ||||||
| Transmembrane | 964 – 981 | 18 | Potential | ||||||
| Topological domain | 982 – 997 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 998 – 1018 | 21 | Potential | ||||||
| Topological domain | 1019 – 1046 | 28 | Extracellular Potential | ||||||
| Transmembrane | 1047 – 1066 | 20 | Potential | ||||||
| Topological domain | 1067 – 1079 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 1080 – 1097 | 18 | Potential | ||||||
| Topological domain | 1098 – 1113 | 16 | Extracellular Potential | ||||||
| Transmembrane | 1114 – 1134 | 21 | Potential | ||||||
| Topological domain | 1135 – 1180 | 46 | Cytoplasmic Potential | ||||||
Sites | |||||||||
| Active site | 513 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 878 | 1 | Magnesium By similarity | ||||||
| Metal binding | 882 | 1 | Magnesium By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 155 – 159 | 5 | Missing in isoform B. | VSP_007310 | |||||
| Alternative sequence | 805 – 843 | 39 | Missing in isoform B. | VSP_007311 | |||||
| Alternative sequence | 1079 – 1180 | 102 | VPFLV…AGPLR → ERARPVPPRLPAPPPAQAGL QEALQAAGTRAGRAALAAAA RRPPEVVQAHGHPRHWNSLP LSHQLDPSPATPPPPPPTSL RLATVYTPPPRPPPPWGSVD YC in isoform B. | VSP_007312 | |||||
| Natural variant | 12 | 1 | T → M in a patient with early onset Parkinson disease. Ref.7 | VAR_058451 | |||||
| Natural variant | 49 | 1 | G → S: dbSNP rs56379718. Ref.9 | VAR_058452 | |||||
| Natural variant | 294 | 1 | R → Q: dbSNP rs56367069. Ref.9 | VAR_058453 | |||||
| Natural variant | 389 | 1 | P → L: dbSNP rs56275621. Ref.9 | VAR_058454 | |||||
| Natural variant | 504 | 1 | G → R in a patient with Kufor-Rakeb syndrome. Ref.7 | VAR_058455 | |||||
| Natural variant | 533 | 1 | G → R in a patient with early onset Parkinson disease. Ref.7 | VAR_058456 | |||||
| Natural variant | 578 | 1 | V → G: dbSNP rs56186751. Ref.9 | VAR_058457 | |||||
| Natural variant | 746 | 1 | A → T | VAR_058458 | |||||
| Natural variant | 762 | 1 | R → W: dbSNP rs55635527. Ref.9 | VAR_058459 | |||||
| Natural variant | 776 | 1 | V → I: dbSNP rs56170027. Ref.9 | VAR_058460 | |||||
| Natural variant | 946 | 1 | I → F: dbSNP rs55708915. Ref.9 | VAR_058461 | |||||
Experimental info | |||||||||
| Sequence conflict | 322 | 1 | Q → R in AAH30267. Ref.3 | ||||||
| Sequence conflict | 855 – 858 | 4 | APEQ → IPRA in CAA08912. Ref.5 | ||||||
| Sequence conflict | 861 | 1 | E → V in CAA08912. Ref.5 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL354615 mRNA. Translation: CAB89728.1. AL049569 Genomic DNA. Translation: CAI20366.1. BC030267 mRNA. Translation: AAH30267.1. AL833966 mRNA. Translation: CAD38813.2. AJ009947 mRNA. Translation: CAA08912.1. |
| IPI | IPI00015154. IPI00177535. |
| RefSeq | NP_001135446.1. NP_071372.1. |
| UniGene | Hs.128866 |
3D structure databases | |
| SMR | Q9NQ11. Positions 192-1082. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9NQ11. |
Protein family/group databases | |
| TCDB | 3.A.3.13.1. P-type ATPase (P-ATPase) superfamily. |
Proteomic databases | |
| PRIDE | Q9NQ11. |
Genome annotation databases | |
| Ensembl | ENST00000326735; ENSP00000327214; ENSG00000159363; Homo sapiens. [Genome view] |
| GeneID | 23400. |
| NMPDR | fig|9606.3.peg.408. |
| UCSC | uc001baa.1. human. |
Organism-specific databases | |
| CTD | 23400. |
| GeneCards | GC01M017185. |
| HGNC | HGNC:30213. ATP13A2. |
| MIM | 606693. phenotype. 610513. gene. |
| Orphanet | 2828. Parkinson disease, genetic type. |
| PharmGKB | PA134897221. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06544. |
| HOGENOM | HBG735026. |
| HOVERGEN | Q9NQ11. |
| InParanoid | Q9NQ11. |
| OMA | FCTAKGG. |
| PhylomeDB | Q9NQ11. |
Gene expression databases | |
| ArrayExpress | Q9NQ11. |
| Bgee | Q9NQ11. |
| CleanEx | HS_ATP13A2. |
| Genevestigator | Q9NQ11. |
| GermOnline | ENSG00000159363. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR004014. ATPase_P-typ_cation-transptr_N. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006544. ATPase_P-typ_unknown-pump-sp. IPR005834. Dehalogen-like_hydro. [Graphical view] |
| PANTHER | PTHR11939. ATPase_P. 1 hit. |
| Pfam | PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view] |
| PRINTS | PR00119. CATATPASE. |
| SMART | SM00831. Cation_ATPase_N. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01494. ATPase_P-type. 2 hits. TIGR01657. P-ATPase-V. 1 hit. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 45553. |
| SOURCE | Search... |
Entry information
| Entry name | AT132_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQ11 Secondary accession number(s): O75700, Q5JXY2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 1 Human chromosome 1: 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


