Human Gene INTS7 (uc001hiw.2) Description and Page Index
Description: Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA. RefSeq Summary (NM_015434): This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. Transcript (Including UTRs) Position: hg19 chr1:212,113,741-212,209,002 Size: 95,262 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr1:212,115,166-212,208,779 Size: 93,614 Coding Exon Count: 20
ID:INT7_HUMAN DESCRIPTION: RecName: Full=Integrator complex subunit 7; Short=Int7; FUNCTION: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Plays a role in DNA damage response (DDR) signaling during the S phase. SUBUNIT: Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, CPSF3L/INTS11 and INTS12. Interacts with NABP2. SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Localizes to sites of DNA damage in a H2AX-independent manner. SIMILARITY: Belongs to the Integrator subunit 7 family. SEQUENCE CAUTION: Sequence=BAA91650.1; Type=Erroneous termination; Positions=618; Note=Translated as Cys; Sequence=BAB14116.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Genetic Association Studies of Complex Diseases and Disorders
Bipolar Disorder Tiffany A Greenwood et al. Biological psychiatry 2012, Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci., Biological psychiatry.
These results suggest that aspects of temperament might define subtypes of BD that are more clinically and genetically homogenous, which might aid in the identification of predisposing genetic variants.
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 Q9NVH2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.