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UniProt functional annotation for Q13627 | ||
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| UniProt code: Q13627. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity). {ECO:0000250|UniProtKB:Q61214, ECO:0000250|UniProtKB:Q9NR20, ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:21127067, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:8769099}. |
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| Catalytic activity: | |
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188}; |
| Catalytic activity: | |
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188}; |
| Catalytic activity: | |
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188}; |
| Activity regulation: | |
Inhibited by RANBP9 (PubMed:14500717). Inhibited by harmine, leucettamine B and leucettine L41 (PubMed:22998443). {ECO:0000269|PubMed:14500717, ECO:0000269|PubMed:22998443}. |
| Subunit: | |
Interacts RAD54L2/ARIP4 (By similarity). Interacts with CRY2 (By similarity). Interacts with RANBP9 (PubMed:14500717). Interacts with WDR68 (PubMed:14593110). Interacts with SRSF6 (PubMed:22767602). Interacts with SIRT1 (By similarity). {ECO:0000250|UniProtKB:Q61214, ECO:0000269|PubMed:14500717, ECO:0000269|PubMed:14593110, ECO:0000269|PubMed:22767602, ECO:0000269|PubMed:24239188}. |
| Subunit: | |
(Microbial infection) Interacts with human adenovirus 5 E1A protein (PubMed:23864635). {ECO:0000269|PubMed:23864635}. |
| Subcellular location: | |
Nucleus {ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:23415227}. Nucleus speckle {ECO:0000250|UniProtKB:Q61214}. |
| Tissue specificity: | |
Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. {ECO:0000269|PubMed:10329007, ECO:0000269|PubMed:8769099, ECO:0000269|PubMed:8872470, ECO:0000269|PubMed:8975710}. |
| Developmental stage: | |
Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndrome brain. {ECO:0000269|PubMed:8769099}. |
| Domain: | |
The polyhistidine repeats act as targeting signals to nuclear speckles. {ECO:0000269|PubMed:19266028}. |
| Ptm: | |
Autophosphorylated on numerous tyrosine residues. Can also autophosphorylate on serine and threonine residues (in vitro). {ECO:0000269|PubMed:23665168}. |
| Disease: | |
Mental retardation, autosomal dominant 7 (MRD7) [MIM:614104]: A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21294719, ECO:0000269|PubMed:23160955}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.