Reviewed,
UniProtKB/Swiss-Prot Q96GX5 (MASTL_HUMAN)
Last modified
June 16, 2009.
Version 68.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Microtubule-associated serine/threonine-protein kinase-like EC=2.7.11.1 | ||||
| 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 | 879 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Putative serine/threonine kinase which may be involved in megakaryocyte differentiation. Ref.9 |
| Catalytic activity | ATP + a protein = ADP + a phosphoprotein. |
| Involvement in disease | Defects in MASTL are the cause of thrombocytopenia type 2 (THC2) [MIM:188000]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Ref.9 |
| Sequence similarities | Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Kinase Serine/threonine-protein kinase Transferase |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | protein amino acid phosphorylation Inferred from electronic annotation. Source: InterPro |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine kinase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96GX5-1) 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: Q96GX5-2) The sequence of this isoform differs from the canonical sequence as follows: 708-708: Missing. 756-793: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q96GX5-3) The sequence of this isoform differs from the canonical sequence as follows: 708-708: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 879 | 879 | Microtubule-associated serine/threonine-protein kinase-like | PRO_0000086315 | |||||
Regions | |||||||||
| Domain | 35 – 835 | 801 | Protein kinase | ||||||
| Domain | 836 – 879 | 44 | AGC-kinase C-terminal | ||||||
| Nucleotide binding | 41 – 49 | 9 | ATP By similarity | ||||||
Sites | |||||||||
| Active site | 156 | 1 | Proton acceptor By similarity | ||||||
| Binding site | 62 | 1 | ATP By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 293 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 370 | 1 | Phosphoserine Ref.7 Ref.5 Ref.6 | ||||||
| Modified residue | 452 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 453 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 512 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 552 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 556 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 631 | 1 | Phosphoserine Ref.7 Ref.4 | ||||||
| Modified residue | 657 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 665 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 668 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 720 | 1 | Phosphotyrosine Ref.7 | ||||||
| Modified residue | 722 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 725 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 741 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 875 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 878 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 708 | 1 | Missing in isoform 2 and isoform 3. | VSP_014574 | |||||
| Alternative sequence | 756 – 793 | 38 | Missing in isoform 2. | VSP_014575 | |||||
| Natural variant | 167 | 1 | E → D in THC2. Ref.9 | VAR_022838 | |||||
| Natural variant | 337 | 1 | T → K Ref.10 | VAR_040792 | |||||
| Natural variant | 606 | 1 | D → Y: dbSNP rs35413630. | VAR_057103 | |||||
| Natural variant | 610 | 1 | V → I Ref.10 | VAR_040793 | |||||
| Natural variant | 620 | 1 | P → A: dbSNP rs3802526. Ref.10 | VAR_022839 | |||||
Experimental info | |||||||||
| Sequence conflict | 634 | 1 | K → E in BAC11218. Ref.1 | ||||||
| Sequence conflict | 685 | 1 | C → R in BAB55321. Ref.1 | ||||||
| Sequence conflict | 731 | 1 | A → P in BAC11218. Ref.1 | ||||||
| Sequence conflict | 865 | 1 | A → T in BAB55321. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). |
| [2] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] (ISOFORM 1). Tissue: Placenta. |
| [4] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-631, MASS SPECTROMETRY. Tissue: Epithelium. |
| [5] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370, MASS SPECTROMETRY. |
| [6] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370; SER-512; SER-552; SER-657; SER-665; SER-668; SER-875 AND SER-878, MASS SPECTROMETRY. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-293; SER-370; SER-452; SER-453; SER-552; SER-556; SER-631; TYR-720; THR-722; SER-725; THR-741; SER-875 AND SER-878, MASS SPECTROMETRY. |
| [8] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [9] | "FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10." Gandhi M.J., Cummings C.L., Drachman J.G. Hum. Hered. 55:66-70(2003) [PubMed: 12890928] [Abstract] Cited for: VARIANT THC2 ASP-167, FUNCTION. |
| [10] | "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: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-337; ILE-610 AND ALA-620. |
Cross-references
Sequence databases | |
|---|---|
| AK027719 mRNA. Translation: BAB55321.1. AK074804 mRNA. Translation: BAC11218.1. AL160291 Genomic DNA. Translation: CAI16908.1. AL160291 Genomic DNA. Translation: CAI16909.1. AL160291 Genomic DNA. Translation: CAI16910.1. BC009107 mRNA. Translation: AAH09107.1. | |
| IPI | IPI00074258. IPI00396230. IPI00550863. |
| RefSeq | NP_116233.2. |
| UniGene | Hs.276905 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q96GX5. |
Proteomic databases | |
| PRIDE | Q96GX5. |
Genome annotation databases | |
| Ensembl | ENSG00000120539. Homo sapiens. [Contig view] |
| GeneID | 84930. |
| KEGG | hsa:84930. |
Organism-specific databases | |
| GeneCards | GC10P027484. |
| HGNC | HGNC:19042. MASTL. |
| MIM | 188000. phenotype. 608221. gene. |
| Orphanet | 168629. Nonsyndromic thrombocytopenia. 3321. Thrombocytopenia - chromosome breakage. |
| PharmGKB | PA134943781. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q96GX5. |
| HOVERGEN | Q96GX5. |
| OMA | Q96GX5. FRSFNSH. |
Enzyme and pathway databases | |
| BRENDA | 2.7.11.1. 247. |
Gene expression databases | |
| ArrayExpress | Q96GX5. |
| Bgee | Q96GX5. |
| CleanEx | HS_MASTL. |
| GermOnline | ENSG00000120539. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000961. AGC-kinase_C. IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_BS. IPR017442. Se/Thr_pkinase-rel. IPR008271. Ser_thr_pkin_AS. [Graphical view] |
| Pfam | PF00069. Pkinase. 2 hits. [Graphical view] |
| ProDom | PD000001. Prot_kinase. 2 hits. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00133. S_TK_X. 1 hit. [Graphical view] |
| PROSITE | PS51285. AGC_KINASE_CTER. 1 hit. PS00107. PROTEIN_KINASE_ATP. False negative. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 75361. |
| SOURCE | Search... |
Entry information
| Entry name | MASTL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96GX5 Secondary accession number(s): Q5T8D5 Q96SJ5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: 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 |
| Human and mouse protein kinases Human and mouse protein kinases: classification and index |
| SIMILARITY comments Index of protein domains and families |

Clusters with


