Q7Z7A4 (PXK_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 92.
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: PX domain-containing protein kinase-like protein Alternative name(s): Modulator of Na,K-ATPase Short name=MONaKA | ||
| 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 | 578 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity. Ref.2 UniProtKB Q8BX57 |
| Subcellular location | Cytoplasm. Cell membrane; Peripheral membrane protein. Note: Also associates with the plasma membrane. Isoform 3 is present throughout the cell. Ref.2 |
| Tissue specificity | Widely expressed in all tissues examined except in heart. Isoform 1 is expressed in high levels in the brain, skeletal muscle, spleen and testis. Isoform 7 expression has yet to be demonstrated. Ref.2 |
| Domain | The protein kinase domain is predicted to be catalytically inactive. |
| Sequence similarities | Belongs to the protein kinase superfamily. Contains 1 protein kinase domain. Contains 1 PX (phox homology) domain. Contains 1 WH2 domain. |
| Sequence caution | The sequence AAH14479.1 differs from that shown. Reason: Erroneous termination at position 451. Translated as Gly. The sequence BAA91097.1 differs from that shown. Reason: Frameshift at position 569. The sequence BAD18536.1 differs from that shown. Reason: Frameshift at position 510. The sequence BAD92925.1 differs from that shown. Reason: Frameshift at position 147. |
Ontologies
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.1 (identifier: Q7Z7A4-1) Also known as: Long; v1; 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 Ref.1 (identifier: Q7Z7A4-2) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 510-515: GISALP → VEHAPF 516-578: Missing. | ||||||
| Isoform 3 Ref.2 (identifier: Q7Z7A4-3) Also known as: v3; The sequence of this isoform differs from the canonical sequence as follows: 1-226: Missing. | ||||||
| Isoform 4 (identifier: Q7Z7A4-4) The sequence of this isoform differs from the canonical sequence as follows: 35-51: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 Ref.2 (identifier: Q7Z7A4-5) Also known as: v4; The sequence of this isoform differs from the canonical sequence as follows: 1-137: Missing. | ||||||
| Isoform 6 Ref.2 (identifier: Q7Z7A4-6) Also known as: v2; The sequence of this isoform differs from the canonical sequence as follows: 35-67: Missing. | ||||||
| Isoform 7 Ref.2 (identifier: Q7Z7A4-7) Also known as: v5; The sequence of this isoform differs from the canonical sequence as follows: 1-83: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 578 | 578 | PX domain-containing protein kinase-like protein | PRO_0000086592 | |||||
Regions | |||||||||
| Domain | 14 – 126 | 113 | PX | ||||||
| Domain | 88 – 481 | 394 | Protein kinase | ||||||
| Domain | 548 – 567 | 20 | WH2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 226 | 226 | Missing in isoform 3. Ref.2 | VSP_051907 | |||||
| Alternative sequence | 1 – 137 | 137 | Missing in isoform 5. Ref.2 | VSP_051908 | |||||
| Alternative sequence | 1 – 83 | 83 | Missing in isoform 7. Ref.2 | VSP_051909 | |||||
| Alternative sequence | 35 – 67 | 33 | Missing in isoform 6. Ref.2 | VSP_051910 | |||||
| Alternative sequence | 35 – 51 | 17 | Missing in isoform 4. | VSP_051911 | |||||
| Alternative sequence | 510 – 515 | 6 | GISALP → VEHAPF in isoform 2. Ref.1 | VSP_051912 | |||||
| Alternative sequence | 516 – 578 | 63 | Missing in isoform 2. Ref.1 | VSP_051913 | |||||
| Natural variant | 426 | 1 | I → V. Ref.9 Corresponds to variant rs55973253 [ dbSNP | Ensembl ]. | VAR_041362 | |||||
| Natural variant | 481 | 1 | K → R. Ref.2 Ref.9 Corresponds to variant rs56384862 [ dbSNP | Ensembl ]. | VAR_041363 | |||||
| Natural variant | 525 | 1 | A → V. Corresponds to variant rs34579268 [ dbSNP | Ensembl ]. | VAR_033911 | |||||
| Natural variant | 535 | 1 | A → V. Corresponds to variant rs34579268 [ dbSNP | Ensembl ]. | VAR_033912 | |||||
Experimental info | |||||||||
| Mutagenesis | 54 | 1 | R → Q: No effect on subcellular location. Ref.2 | ||||||
| Mutagenesis | 56 | 1 | Y → A: Results in redistribution of protein from cytoplasm throughout entire cell. Ref.2 | ||||||
| Mutagenesis | 92 | 1 | R → L: Results in redistribution of protein from cytoplasm throughout entire cell. Ref.2 | ||||||
| Sequence conflict | 42 | 1 | R → G in AAK94455. Ref.3 | ||||||
| Sequence conflict | 42 | 1 | R → G in BAA91097. Ref.6 | ||||||
| Sequence conflict | 459 | 1 | R → K in AAR98521. Ref.2 | ||||||
| Sequence conflict | 489 | 1 | Missing in BAD18536. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "MONaKA, a novel modulator of the plasma membrane Na,K-ATPase." Mao H., Ferguson T.S., Cibulsky S.M., Holmqvist M., Ding C., Fei H., Levitan I.B. J. Neurosci. 25:7934-7943(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Brain. |
| [2] | "Expression pattern and subcellular localization of five splice isoforms of human PXK." Zou X., Qiu G., Chen C., Wu M., Hu Y., Zheng H., Li X., Gu S., Ji C., Mao Y. Int. J. Mol. Med. 16:701-707(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 5; 6 AND 7), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-54; TYR-56 AND ARG-92, VARIANT ARG-481. Tissue: Fetal brain. |
| [3] | Hong W. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [4] | Shan Y.X., Yu L. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [5] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [6] | "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] (ISOFORMS 1 AND 4). Tissue: Caudate nucleus and Hepatoma. |
| [7] | "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] OF 1-461 (ISOFORMS 1/2). Tissue: B-cell and Kidney. |
| [8] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [9] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-426 AND ARG-481. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | DQ124707 mRNA. Translation: AAZ38821.1. DQ124708 mRNA. Translation: AAZ38822.1. AY437879 mRNA. Translation: AAR98521.1. AY847222 mRNA. Translation: AAX73354.1. AY847220 mRNA. Translation: AAX73352.1. AY847221 mRNA. Translation: AAX73353.1. AF399753 mRNA. Translation: AAK94455.1. AY274811 mRNA. Translation: AAP42076.1. AB209688 mRNA. Translation: BAD92925.1. Frameshift. AK000342 mRNA. Translation: BAA91097.1. Frameshift. AK131385 mRNA. Translation: BAD18536.1. Frameshift. BC008943 mRNA. Translation: AAH08943.1. BC014479 mRNA. Translation: AAH14479.1. Sequence problems. |
| IPI | IPI00479912. IPI00556666. IPI00654715. IPI00655529. IPI00655607. IPI00655666. IPI00656013. |
| RefSeq | NP_060241.2. NM_017771.3. |
| UniGene | Hs.190544. |
3D structure databases | |
| ProteinModelPortal | Q7Z7A4. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q7Z7A4. |
Polymorphism databases | |
| DMDM | 74759261. |
Proteomic databases | |
| PaxDb | Q7Z7A4. |
| PRIDE | Q7Z7A4. |
Protocols and materials databases | |
| DNASU | 54899. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000302779; ENSP00000305045; ENSG00000168297. ENST00000356151; ENSP00000348472; ENSG00000168297. ENST00000383716; ENSP00000373222; ENSG00000168297. ENST00000479241; ENSP00000419049; ENSG00000168297. ENST00000484288; ENSP00000417915; ENSG00000168297. ENST00000536660; ENSP00000438356; ENSG00000168297. |
| GeneID | 54899. |
| KEGG | hsa:54899. |
| UCSC | uc003djx.1. human. uc003djz.1. human. uc003dkc.1. human. uc010hnj.1. human. |
Organism-specific databases | |
| CTD | 54899. |
| GeneCards | GC03P058318. |
| H-InvDB | HIX0020846. |
| HGNC | HGNC:23326. PXK. |
| HPA | HPA024068. |
| MIM | 611450. gene. |
| neXtProt | NX_Q7Z7A4. |
| PharmGKB | PA134899496. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG71043. |
| HOVERGEN | HBG061245. |
| InParanoid | Q7Z7A4. |
| OMA | HGSEEEK. |
| OrthoDB | EOG40GCQT. |
Gene expression databases | |
| ArrayExpress | Q7Z7A4. |
| Bgee | Q7Z7A4. |
| Genevestigator | Q7Z7A4. |
| GermOnline | ENSG00000168297. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.1520.10. 1 hit. |
| InterPro | IPR011009. Kinase-like_dom. IPR001683. Phox. IPR000719. Prot_kinase_cat_dom. IPR003124. WH2_dom. [Graphical view] |
| Pfam | PF00069. Pkinase. 1 hit. PF00787. PX. 1 hit. PF02205. WH2. 1 hit. [Graphical view] |
| SMART | SM00312. PX. 1 hit. [Graphical view] |
| SUPFAM | SSF56112. Kinase_like. 1 hit. SSF64268. PX. 1 hit. |
| PROSITE | PS50011. PROTEIN_KINASE_DOM. 1 hit. PS50195. PX. 1 hit. PS51082. WH2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PXK. human. |
| GenomeRNAi | 54899. |
| NextBio | 57920. |
| SOURCE | Search... |
Entry information
| Entry name | PXK_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z7A4 Secondary accession number(s): Q3BCH4 Q9NXB8 | ||||||||
| 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 and mouse protein kinases Human and mouse protein kinases: classification and index |
| Human chromosome 3 Human chromosome 3: 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
