UniProt functional annotation for Q6VMQ6



	UniProt functional annotation for Q6VMQ6

UniProt code: Q6VMQ6.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100). {ECO:0000269|PubMed:12665582, ECO:0000269|PubMed:14536086, ECO:0000269|PubMed:19106100, ECO:0000269|PubMed:27732843}.

Subunit: Interacts with MBD1; the interaction is enhanced when MBD1 is sumoylated (PubMed:12665582, PubMed:16757475). Interacts with SETDB1; the interaction protects SETDB1 from proteasomal degradation and is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9' (PubMed:14536086, PubMed:15691849, PubMed:27732843). Interacts with SUMO ubiquitin-like proteins (SUMO1, SUNO2 and SUMO3), with a preference for SUMO2 and SUMO3 (PubMed:16757475, PubMed:18842587). Interacts with SP1, ATF7 and ZHX1 (PubMed:10976766, PubMed:12659632, PubMed:19106100). Interacts with the general transcription machinery, including ERCC2, ERCC3, GTF2E1, GTF2E2 and POLR2A (PubMed:19106100). {ECO:0000269|PubMed:10976766, ECO:0000269|PubMed:12659632, ECO:0000269|PubMed:12665582, ECO:0000269|PubMed:14536086, ECO:0000269|PubMed:15691849, ECO:0000269|PubMed:16757475, ECO:0000269|PubMed:18842587, ECO:0000269|PubMed:19106100, ECO:0000269|PubMed:27732843}.

Subunit: (Microbial infection) Interacts with Epstein-Barr virus BRLF1/Rta protein, leading to the regulation of host genes in Epstein- Barr virus-infected cells. {ECO:0000269|PubMed:16314315}.

Subcellular location: Nucleus {ECO:0000269|PubMed:19106100, ECO:0000269|PubMed:27732843}.

Tissue specificity: Detected at low levels in breast, lung and stomach; highly up-regulated in the corresponding cancerous tissues (at protein level). {ECO:0000269|PubMed:19106100}.

Similarity: Belongs to the MCAF family. {ECO:0000305}.

Sequence caution: Sequence=AAH37312.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA91751.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1 (PubMed:12665582). Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) (PubMed:14536086, PubMed:27732843). Facilitates telomerase TERT and TERC gene expression by SP1 in cancer cells (PubMed:19106100). {ECO:0000269\|PubMed:12665582, ECO:0000269\|PubMed:14536086, ECO:0000269\|PubMed:19106100, ECO:0000269\|PubMed:27732843}.


Subunit:		Interacts with MBD1; the interaction is enhanced when MBD1 is sumoylated (PubMed:12665582, PubMed:16757475). Interacts with SETDB1; the interaction protects SETDB1 from proteasomal degradation and is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9' (PubMed:14536086, PubMed:15691849, PubMed:27732843). Interacts with SUMO ubiquitin-like proteins (SUMO1, SUNO2 and SUMO3), with a preference for SUMO2 and SUMO3 (PubMed:16757475, PubMed:18842587). Interacts with SP1, ATF7 and ZHX1 (PubMed:10976766, PubMed:12659632, PubMed:19106100). Interacts with the general transcription machinery, including ERCC2, ERCC3, GTF2E1, GTF2E2 and POLR2A (PubMed:19106100). {ECO:0000269\|PubMed:10976766, ECO:0000269\|PubMed:12659632, ECO:0000269\|PubMed:12665582, ECO:0000269\|PubMed:14536086, ECO:0000269\|PubMed:15691849, ECO:0000269\|PubMed:16757475, ECO:0000269\|PubMed:18842587, ECO:0000269\|PubMed:19106100, ECO:0000269\|PubMed:27732843}.
Subunit:		(Microbial infection) Interacts with Epstein-Barr virus BRLF1/Rta protein, leading to the regulation of host genes in Epstein- Barr virus-infected cells. {ECO:0000269\|PubMed:16314315}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:19106100, ECO:0000269\|PubMed:27732843}.
Tissue specificity:		Detected at low levels in breast, lung and stomach; highly up-regulated in the corresponding cancerous tissues (at protein level). {ECO:0000269\|PubMed:19106100}.
Similarity:		Belongs to the MCAF family. {ECO:0000305}.
Sequence caution:		Sequence=AAH37312.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AK001001; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA91751.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};