P54707 (AT12A_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 139.
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: Potassium-transporting ATPase alpha chain 2 EC=3.6.3.10 Alternative name(s): Non-gastric H(+)/K(+) ATPase subunit alpha Proton pump | ||||
| 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 | 1039 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes the hydrolysis of ATP coupled with the exchange of H+ and K+ ions across the plasma membrane. Responsible for potassium absorption in various tissues. |
| Catalytic activity | ATP + H2O + H+(In) + K+(Out) = ADP + phosphate + H+(Out) + K+(In). |
| Subunit structure | Composed of two subunits: alpha (catalytic) and beta. |
| Subcellular location | |
| Tissue specificity | Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level). Ref.10 Ref.11 |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. [View classification] |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P54707-1) 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: P54707-2) The sequence of this isoform differs from the canonical sequence as follows: 266-266: E → EASTSPV | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1039 | 1039 | Potassium-transporting ATPase alpha chain 2 | PRO_0000046260 | |||||
Regions | |||||||||
| Topological domain | 1 – 102 | 102 | Cytoplasmic Potential | ||||||
| Transmembrane | 103 – 123 | 21 | Helical; Potential | ||||||
| Topological domain | 124 – 146 | 23 | Lumenal Potential | ||||||
| Transmembrane | 147 – 167 | 21 | Helical; Potential | ||||||
| Topological domain | 168 – 303 | 136 | Cytoplasmic Potential | ||||||
| Transmembrane | 304 – 323 | 20 | Helical; Potential | ||||||
| Topological domain | 324 – 335 | 12 | Lumenal Potential | ||||||
| Transmembrane | 336 – 353 | 18 | Helical; Potential | ||||||
| Topological domain | 354 – 787 | 434 | Cytoplasmic Potential | ||||||
| Transmembrane | 788 – 807 | 20 | Helical; Potential | ||||||
| Topological domain | 808 – 817 | 10 | Lumenal Potential | ||||||
| Transmembrane | 818 – 838 | 21 | Helical; Potential | ||||||
| Topological domain | 839 – 858 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 859 – 881 | 23 | Helical; Potential | ||||||
| Topological domain | 882 – 933 | 52 | Lumenal Potential | ||||||
| Transmembrane | 934 – 953 | 20 | Helical; Potential | ||||||
| Topological domain | 954 – 967 | 14 | Cytoplasmic Potential | ||||||
| Transmembrane | 968 – 986 | 19 | Helical; Potential | ||||||
| Topological domain | 987 – 1001 | 15 | Lumenal Potential | ||||||
| Transmembrane | 1002 – 1022 | 21 | Helical; Potential | ||||||
| Topological domain | 1023 – 1039 | 17 | Cytoplasmic Potential | ||||||
Sites | |||||||||
| Active site | 391 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 732 | 1 | Magnesium By similarity | ||||||
| Metal binding | 736 | 1 | Magnesium By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 958 | 1 | Phosphoserine; by PKA By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 266 | 1 | E → EASTSPV in isoform 2. | VSP_034640 | |||||
| Natural variant | 863 | 1 | P → L. Corresponds to variant rs2289909 [ dbSNP | Ensembl ]. | VAR_020186 | |||||
Experimental info | |||||||||
| Sequence conflict | 3 | 1 | Q → QLFQ in AAC37589. Ref.2 | ||||||
| Sequence conflict | 145 | 1 | V → VRLWGVQV in CAA49477. Ref.7 | ||||||
| Sequence conflict | 225 – 227 | 3 | Missing in CAA49477. Ref.7 | ||||||
| Sequence conflict | 266 | 1 | E → V in CAA49477. Ref.7 | ||||||
| Sequence conflict | 382 | 1 | L → P in AAA35576. Ref.9 | ||||||
| Sequence conflict | 724 – 727 | 4 | DAVV → VGGQ in CAA49478. Ref.7 | ||||||
| Sequence conflict | 772 – 773 | 2 | SI → LH in CAA49478. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of the entire cDNA encoded by ATP1AL1 --a member of the human Na,K/H,K-ATPase gene family." Grishin A.V., Sverdlov V.E., Kostina M.B., Modyanov N.N. FEBS Lett. 349:144-150(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Kidney and Skin. |
| [2] | "Genomic organization of the human ATP1AL1 gene encoding a ouabain-sensitive H,K-ATPase." Sverdlov V.E., Kostina M.B., Modyanov N.N. Genomics 32:317-327(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [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 1). Tissue: Trachea. |
| [4] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 2). Tissue: Brain. |
| [7] | "The family of human Na,K-ATPase genes. ATP1AL1 gene is transcriptionally competent and probably encodes the related ion transport ATPase." Modyanov N.N., Petrukhin K.E., Sverdlov V.E., Grishin A.V., Orlova M.Y., Kostina M.B., Makarevich O.I., Broude N.E., Monastyrskaya G.S., Sverdlov E.D. FEBS Lett. 278:91-94(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 77-348 AND 681-780. |
| [8] | "Multiple genes encode the human Na+,K+-ATPase catalytic subunit." Shull M.M., Lingrel J.B. Proc. Natl. Acad. Sci. U.S.A. 84:4039-4043(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 183-253. |
| [9] | "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit." Sverdlov E.D., Monastyrskaya G.S., Broude N.E., Ushkaryov Y.A., Allikmets R.L., Melkov A.M., Smirnov Y.V., Malyshev I.V., Dulubova I.E., Petrukhin K.E., Gryshin A.V., Kiyatkin N.I., Kostina M.B., Sverdlov V.E., Modyanov N.N., Ovchinnikov Y.A. FEBS Lett. 217:275-278(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 357-412. |
| [10] | "Ouabain-sensitive H,K-ATPase: tissue-specific expression of the mammalian genes encoding the catalytic alpha subunit." Pestov N.B., Romanova L.G., Korneenko T.V., Egorov M.V., Kostina M.B., Sverdlov V.E., Askari A., Shakhparonov M.I., Modyanov N.N. FEBS Lett. 440:320-324(1998) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [11] | "Expression of the non-gastric H+/K+ ATPase ATP12A in normal and pathological human prostate tissue." Streif D., Iglseder E., Hauser-Kronberger C., Fink K.G., Jakab M., Ritter M. Cell. Physiol. Biochem. 28:1287-1294(2011) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U02076 mRNA. Translation: AAB37755.1. L42563 L42569 Genomic DNA. Translation: AAC37589.2.AK292968 mRNA. Translation: BAF85657.1. AL157364 Genomic DNA. Translation: CAH72440.1. CH471075 Genomic DNA. Translation: EAX08346.1. CH471075 Genomic DNA. Translation: EAX08345.1. BC031609 mRNA. Translation: AAH31609.1. X69823 Genomic DNA. Translation: CAA49477.1. X69824 Genomic DNA. Translation: CAA49478.1. M16797 mRNA. Translation: AAA51802.1. M27574 Genomic DNA. Translation: AAA35576.1. |
| IPI | IPI00008161. IPI00872242. |
| PIR | A26641. D27795. E27397. I38401. S13028. S31504. |
| RefSeq | NP_001172014.1. NM_001185085.1. NP_001667.4. NM_001676.5. |
| UniGene | Hs.147111. |
3D structure databases | |
| ProteinModelPortal | P54707. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P54707. 4 interactions. |
| MINT | MINT-4656898. |
| STRING | 9606.ENSP00000371372. |
PTM databases | |
| PhosphoSite | P54707. |
Polymorphism databases | |
| DMDM | 212287925. |
Proteomic databases | |
| PaxDb | P54707. |
| PRIDE | P54707. |
Protocols and materials databases | |
| DNASU | 479. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000218548; ENSP00000218548; ENSG00000075673. ENST00000381946; ENSP00000371372; ENSG00000075673. |
| GeneID | 479. |
| KEGG | hsa:479. |
| UCSC | uc001upp.3. human. uc010aaa.3. human. |
Organism-specific databases | |
| CTD | 479. |
| GeneCards | GC13P025254. |
| HGNC | HGNC:13816. ATP12A. |
| HPA | HPA039526. |
| MIM | 182360. gene. |
| neXtProt | NX_P54707. |
| PharmGKB | PA25104. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0474. |
| HOGENOM | HOG000265622. |
| HOVERGEN | HBG004298. |
| KO | K01544. |
| OMA | MINGEEH. |
| OrthoDB | EOG41C6VF. |
Enzyme and pathway databases | |
| BRENDA | 3.6.3.10. 2681. |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| Bgee | P54707. |
| CleanEx | HS_ATP12A. |
| Genevestigator | P54707. |
| GermOnline | ENSG00000075673. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.20.1110.10. 2 hits. 2.70.150.10. 2 hits. 3.40.1110.10. 1 hit. |
| InterPro | IPR006068. ATPase_P-typ_cation-transptr_C. IPR004014. ATPase_P-typ_cation-transptr_N. IPR023299. ATPase_P-typ_cyto_domN. IPR005775. ATPase_P-typ_Na/K_IIC. IPR018303. ATPase_P-typ_P_site. IPR023298. ATPase_P-typ_TM_dom. IPR008250. ATPase_P-typ_transduc_dom_A. IPR001757. Cation_transp_P_typ_ATPase. IPR023214. HAD-like_dom. [Graphical view] |
| PANTHER | PTHR24093. PTHR24093. 1 hit. |
| Pfam | PF00689. Cation_ATPase_C. 1 hit. PF00690. Cation_ATPase_N. 1 hit. PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 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 | TIGR01106. ATPase-IIC_X-K. 1 hit. TIGR01494. ATPase_P-type. 2 hits. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | P54707. |
| ChEMBL | CHEMBL2933. |
| DrugBank | DB00736. Esomeprazole. DB00213. Pantoprazole. |
| GenomeRNAi | 479. |
| NextBio | 1985. |
| SOURCE | Search... |
Entry information
| Entry name | AT12A_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P54707 Secondary accession number(s): Q13816 Q8N5U2 | ||||||||
| 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 13 Human chromosome 13: 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
