Reviewed,
UniProtKB/Swiss-Prot Q9NQX0 (PRDM6_HUMAN)
Last modified
February 9, 2010.
Version 72.
History...
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50% identity |
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Names and origin
| Protein names | Recommended name: Putative histone-lysine N-methyltransferase PRDM6 EC=2.1.1.43 Alternative name(s): PR domain zinc finger protein 6 PR domain-containing protein 6 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 595 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression By similarity. |
| Catalytic activity | S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. |
| Subunit structure | Interacts with HDAC1, HDAC2, HDAC3, CBX1 and EP300 By similarity. |
| Subcellular location | Nucleus By similarity. |
| Sequence similarities | Contains 4 C2H2-type zinc fingers. Contains 1 SET domain. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Chromosomal protein Nucleus |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat Zinc-finger |
| Ligand | Metal-binding S-adenosyl-L-methionine Zinc |
| Molecular function | Chromatin regulator Methyltransferase Repressor Transferase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | chromosome Inferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC nucleic acid bindingInferred from electronic annotation. Source: InterPro zinc ion bindingInferred 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: Q9NQX0-3) 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: Q9NQX0-2) Also known as: B; The sequence of this isoform differs from the canonical sequence as follows: 1-182: Missing. 314-595: Missing. | ||||||
| Isoform 3 (identifier: Q9NQX0-1) Also known as: A; The sequence of this isoform differs from the canonical sequence as follows: 1-182: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 595 | 595 | Putative histone-lysine N-methyltransferase PRDM6 | PRO_0000047762 | |||||
Regions | |||||||||
| Domain | 247 – 369 | 123 | SET | ||||||
| Zinc finger | 473 – 495 | 23 | C2H2-type 1; degenerate | ||||||
| Zinc finger | 501 – 523 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 529 – 551 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 557 – 579 | 23 | C2H2-type 4; degenerate | ||||||
| Compositional bias | 47 – 73 | 27 | Pro-rich | ||||||
| Compositional bias | 97 – 106 | 10 | Poly-Ala | ||||||
| Compositional bias | 123 – 129 | 7 | Poly-Ala | ||||||
| Compositional bias | 151 – 162 | 12 | Poly-Gly | ||||||
| Compositional bias | 228 – 232 | 5 | Poly-Ala | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 182 | 182 | Missing in isoform 2 and isoform 3. | VSP_036348 | |||||
| Alternative sequence | 314 – 595 | 282 | Missing in isoform 2. | VSP_006929 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The yin-yang of PR-domain family genes in tumorigenesis." Jiang G.L., Huang S. Histol. Histopathol. 15:109-117(2000) [PubMed: 10668202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). |
| [2] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF272898 mRNA. Translation: AAF78078.1. Different initiation. AF272899 mRNA. Translation: AAF78079.1. Different initiation. AC008548 Genomic DNA. No translation available. AC106786 Genomic DNA. No translation available. |
| IPI | IPI00218376. IPI00248395. IPI00921397. |
| RefSeq | NP_001129711.1. |
| UniGene | Hs.135118 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9NQX0. |
Proteomic databases | |
| PRIDE | Q9NQX0. |
Genome annotation databases | |
| Ensembl | ENST00000261364; ENSP00000261364; ENSG00000061455; Homo sapiens. [Genome view] ENST00000407847; ENSP00000384725; ENSG00000061455; Homo sapiens. [Genome view] |
| GeneID | 93166. |
| KEGG | hsa:93166. |
| UCSC | uc003kti.1. human. |
Organism-specific databases | |
| CTD | 93166. |
| GeneCards | GC05P122452. |
| HGNC | HGNC:9350. PRDM6. |
| PharmGKB | PA33718. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG19169. |
| HOGENOM | HBG506721. |
| HOVERGEN | Q9NQX0. |
| InParanoid | Q9NQX0. |
| OrthoDB | EOG9QC3R8. |
Gene expression databases | |
| ArrayExpress | Q9NQX0. |
| Bgee | Q9NQX0. |
| CleanEx | HS_PRDM6. |
| Genevestigator | Q9NQX0. |
| GermOnline | ENSG00000061455. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001214. SET_dom. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit. |
| Pfam | PF00856. SET. 1 hit. PF00096. zf-C2H2. 2 hits. [Graphical view] |
| SMART | SM00317. SET. 1 hit. SM00355. ZnF_C2H2. 4 hits. [Graphical view] |
| PROSITE | PS50280. SET. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 2 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Entry information
| Entry name | PRDM6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQX0 Secondary accession number(s): B5MCJ4, Q9NQW9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| SIMILARITY comments Index of protein domains and families |

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