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UniProt functional annotation for Q7Z6G8 | ||
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| UniProt code: Q7Z6G8. |
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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: | |
Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells. |
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| Function: | |
Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129}. |
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| Function: | |
Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing. |
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| Subunit: | |
Isoform 3 interacts with DLG4 (By similarity). Interacts with EPHA8. Isoform 2 interacts with COIL. Isoform 4 interacts with APP and EPHA8. Isoform 6 interacts with EPHA8. {ECO:0000250, ECO:0000269|PubMed:15004329, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129, ECO:0000269|PubMed:17875921}. |
| Subcellular location: | |
Cytoplasm {ECO:0000269|PubMed:15004329, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129, ECO:0000269|PubMed:19666031}. |
| Subcellular location: | |
[Isoform 2]: Nucleus. |
| Subcellular location: | |
[Isoform 3]: Cell junction, synapse, postsynaptic density. Cell projection, dendritic spine. Nucleus. Nucleus, Cajal body. Note=The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner (By similarity). {ECO:0000250}. |
| Subcellular location: | |
[Isoform 4]: Nucleus. Note=The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed. |
| Subcellular location: | |
[Isoform 6]: Nucleus. |
| Tissue specificity: | |
Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 is expressed in brain and several cancer cell lines. {ECO:0000269|PubMed:10490826, ECO:0000269|PubMed:15347684}. |
| Induction: | |
Transcriptionally up-regulated in t(1:19) pre-B cell acute lymphocytic leukemia by the chimeric TCF3-PBX1. Not expressed in pre-B cell that lack this translocation. {ECO:0000269|PubMed:10490826, ECO:0000269|PubMed:16769578}. |
| Ptm: | |
Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage. {ECO:0000250}. |
| Sequence caution: | |
Sequence=AAP38184.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.