Description: Homo sapiens PR domain containing 6 (PRDM6), mRNA. RefSeq Summary (NM_001136239): The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr5:122,424,841-122,523,745 Size: 98,905 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr5:122,425,710-122,522,895 Size: 97,186 Coding Exon Count: 7
ID:PRDM6_HUMAN DESCRIPTION: RecName: Full=Putative histone-lysine N-methyltransferase PRDM6; EC=2.1.1.43; AltName: Full=PR domain zinc finger protein 6; AltName: Full=PR domain-containing protein 6; 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: Interacts with HDAC1, HDAC2, HDAC3, CBX1 and EP300 (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). SIMILARITY: Contains 4 C2H2-type zinc fingers. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=AAF78078.1; Type=Erroneous initiation; Sequence=AAF78079.1; Type=Erroneous initiation;
Adiponectin James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903298]
Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
Aorta Ramachandran S Vasan et al. JAMA : the journal of the American Medical Association 2009, Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data., JAMA : the journal of the American Medical Association.
[PubMed 19584346]
We identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance. Further studies are required to replicate these findings, identify the causal variants at or near these loci, characterize their functional significance, and determine whether they are related to overt cardiovascular disease.
Body Height Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature.
[PubMed 20881960]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00096 - Zinc finger, C2H2 type PF00856 - SET domain PF13894 - C2H2-type zinc finger
SCOP Domains: 82199 - SET domain 57667 - C2H2 and C2HC zinc fingers
ModBase Predicted Comparative 3D Structure on Q9NQX0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
