Description: Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. RefSeq Summary (NM_014390): This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]. Transcript (Including UTRs) Position: hg19 chr7:127,292,202-127,732,659 Size: 440,458 Total Exon Count: 24 Strand: + Coding Region Position: hg19 chr7:127,292,428-127,732,110 Size: 439,683 Coding Exon Count: 24
ID:SND1_HUMAN DESCRIPTION: RecName: Full=Staphylococcal nuclease domain-containing protein 1; AltName: Full=100 kDa coactivator; AltName: Full=EBNA2 coactivator p100; AltName: Full=Tudor domain-containing protein 11; AltName: Full=p100 co-activator; FUNCTION: Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB activity. Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2). SUBUNIT: Binds to acidic transactivation domain of EBNA2. Interacts with EAV NSP1. Interacts with GTF2E1 and GTF2E2. Forms a ternary complex with STAT6 and POLR2A. Interacts with STAT5 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Melanosome. Note=In IL-4 stimulated cells colocalizes with STAT6 in the nucleus. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. TISSUE SPECIFICITY: Ubiquitously expressed. PTM: Phosphorylated by PIM1 in vitro. SIMILARITY: Contains 4 TNase-like domains. SIMILARITY: Contains 1 Tudor domain. SEQUENCE CAUTION: Sequence=AAA80488.1; Type=Frameshift; Positions=5; Note=The frameshift leads to wrong initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SND1 CDC HuGE Published Literature: SND1 Positive Disease Associations: Cholesterol, LDL
, Mental Competency Related Studies:
Cholesterol, LDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Mental Competency Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics.
[PubMed 17903295]
Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
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.
ModBase Predicted Comparative 3D Structure on Q7KZF4
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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.
Protein Q7KZF4 (Reactome details) participates in the following event(s):
R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs R-HSA-6802932 Dissociation of BRAF/RAF fusion complex R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers R-HSA-6802952 Signaling by BRAF and RAF fusions R-HSA-6802957 Oncogenic MAPK signaling R-HSA-5663202 Diseases of signal transduction R-HSA-1643685 Disease
US Server
