Q9NQ11 (AT132_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 103.
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: Probable cation-transporting ATPase 13A2 EC=3.6.3.- | ||||
| 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 | 1180 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Catalytic activity | ATP + H2O = ADP + phosphate. |
| Subcellular location | Membrane; Multi-pass membrane protein By similarity. Lysosome Ref.8. |
| Involvement in disease | Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]. A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.13 |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. [View classification] |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Lysosome Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Parkinsonism |
| Domain | Transmembrane Transmembrane helix |
| Ligand | ATP-binding Magnesium Metal-binding Nucleotide-binding |
| Molecular function | Hydrolase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cation transport Inferred from electronic annotation. Source: InterPro |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lysosomeInferred from direct assay Ref.8. Source: UniProtKB |
| 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 metal 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 | Helical; Potential | ||||||
| Topological domain | 35 – 45 | 11 | Extracellular Potential | ||||||
| Transmembrane | 46 – 66 | 21 | Helical; Potential | ||||||
| Topological domain | 67 – 230 | 164 | Cytoplasmic Potential | ||||||
| Transmembrane | 231 – 253 | 23 | Helical; Potential | ||||||
| Topological domain | 254 – 256 | 3 | Extracellular Potential | ||||||
| Transmembrane | 257 – 276 | 20 | Helical; Potential | ||||||
| Topological domain | 277 – 425 | 149 | Cytoplasmic Potential | ||||||
| Transmembrane | 426 – 445 | 20 | Helical; Potential | ||||||
| Topological domain | 446 – 459 | 14 | Extracellular Potential | ||||||
| Transmembrane | 460 – 480 | 21 | Helical; Potential | ||||||
| Topological domain | 481 – 932 | 452 | Cytoplasmic Potential | ||||||
| Transmembrane | 933 – 952 | 20 | Helical; Potential | ||||||
| Topological domain | 953 – 963 | 11 | Extracellular Potential | ||||||
| Transmembrane | 964 – 981 | 18 | Helical; Potential | ||||||
| Topological domain | 982 – 997 | 16 | Cytoplasmic Potential | ||||||
| Transmembrane | 998 – 1018 | 21 | Helical; Potential | ||||||
| Topological domain | 1019 – 1046 | 28 | Extracellular Potential | ||||||
| Transmembrane | 1047 – 1066 | 20 | Helical; Potential | ||||||
| Topological domain | 1067 – 1079 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 1080 – 1097 | 18 | Helical; Potential | ||||||
| Topological domain | 1098 – 1113 | 16 | Extracellular Potential | ||||||
| Transmembrane | 1114 – 1134 | 21 | Helical; 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. Ref.9 Corresponds to variant rs151117874 [ dbSNP | Ensembl ]. | VAR_058451 | |||||
| Natural variant | 49 | 1 | G → S. Ref.12 Corresponds to variant rs56379718 [ dbSNP | Ensembl ]. | VAR_058452 | |||||
| Natural variant | 182 | 1 | F → L in KRS. Ref.10 | VAR_066019 | |||||
| Natural variant | 294 | 1 | R → Q. Ref.12 Corresponds to variant rs56367069 [ dbSNP | Ensembl ]. | VAR_058453 | |||||
| Natural variant | 389 | 1 | P → L. Ref.12 Corresponds to variant rs56275621 [ dbSNP | Ensembl ]. | VAR_058454 | |||||
| Natural variant | 504 | 1 | G → R in KRS. Ref.9 Corresponds to variant rs121918227 [ dbSNP | Ensembl ]. | VAR_058455 | |||||
| Natural variant | 533 | 1 | G → R in a patient with early onset Parkinson disease. Ref.9 | VAR_058456 | |||||
| Natural variant | 578 | 1 | V → G. Ref.12 Corresponds to variant rs56186751 [ dbSNP | Ensembl ]. | VAR_058457 | |||||
| Natural variant | 746 | 1 | A → T. Ref.11 Corresponds to variant rs147277743 [ dbSNP | Ensembl ]. | VAR_058458 | |||||
| Natural variant | 762 | 1 | R → W. Ref.12 Corresponds to variant rs55635527 [ dbSNP | Ensembl ]. | VAR_058459 | |||||
| Natural variant | 776 | 1 | V → I. Ref.12 Corresponds to variant rs56170027 [ dbSNP | Ensembl ]. | VAR_058460 | |||||
| Natural variant | 877 | 1 | G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7. Ref.13 | VAR_066020 | |||||
| Natural variant | 946 | 1 | I → F. Ref.12 Corresponds to variant rs55708915 [ dbSNP | Ensembl ]. | VAR_058461 | |||||
| Natural variant | 1059 | 1 | L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. Ref.8 | VAR_066021 | |||||
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
Web resources
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. NM_001141974.1. NP_071372.1. NM_022089.2. |
| UniGene | Hs.128866. |
3D structure databases | |
| ProteinModelPortal | Q9NQ11. |
| SMR | Q9NQ11. Positions 281-413, 862-922. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9NQ11. |
Protein family/group databases | |
| TCDB | 3.A.3.13.1. P-type ATPase (P-ATPase) superfamily. |
Polymorphism databases | |
| DMDM | 14285364. |
Proteomic databases | |
| PRIDE | Q9NQ11. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000326735; ENSP00000327214; ENSG00000159363. |
| GeneID | 23400. |
| KEGG | hsa:23400. |
| NMPDR | fig|9606.3.peg.408. |
| UCSC | uc001baa.1. human. |
Organism-specific databases | |
| CTD | 23400. |
| GeneCards | GC01M017312. |
| HGNC | HGNC:30213. ATP13A2. |
| HPA | CAB037111. |
| MIM | 606693. phenotype. 610513. gene. |
| neXtProt | NX_Q9NQ11. |
| Orphanet | 2828. Young adult-onset Parkinsonism. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06544. |
| GeneTree | ENSGT00530000063001. |
| HOGENOM | HBG735026. |
| HOVERGEN | HBG065757. |
| InParanoid | Q9NQ11. |
| OMA | FCTAKGG. |
| OrthoDB | EOG4M0F0W. |
| PhylomeDB | Q9NQ11. |
Gene expression databases | |
| ArrayExpress | Q9NQ11. |
| Bgee | Q9NQ11. |
| CleanEx | HS_ATP13A2. |
| Genevestigator | Q9NQ11. |
| GermOnline | ENSG00000159363. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR023306. ATPase_cation_domN. IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR004014. ATPase_P-typ_cation-transptr_N. IPR023300. ATPase_P-typ_cyto_domA. IPR023299. ATPase_P-typ_cyto_domN. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006544. ATPase_P-typ_unknown-pump-sp. IPR023214. HAD-like_dom. [Graphical view] |
| Gene3D | G3DSA:2.70.150.10. ATPase_P-typ_cyto_domA. 1 hit. G3DSA:3.40.1110.10. ATPase_P-typ_cyto_domN. 1 hit. G3DSA:3.40.50.1000. HAD-like_dom. 2 hits. |
| KO | K13526. |
| Pfam | PF00122. E1-E2_ATPase. 1 hit. [Graphical view] |
| PRINTS | PR00119. CATATPASE. |
| SMART | SM00831. Cation_ATPase_N. 1 hit. [Graphical view] |
| SUPFAM | SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit. |
| 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 | |
| NextBio | 45553. |
| SOURCE | Search... |
Entry information
| Entry name | AT132_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQ11 Secondary accession number(s): O75700, Q5JXY2 | ||||||||
| 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 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