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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:212,113,741-212,209,002)mRNA (may differ from genome)Protein (962 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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
  Genetic Association Database (archive): INTS7
CDC HuGE Published Literature: INTS7
Positive Disease Associations: Bipolar Disorder , Stroke
Related Studies:
  1. 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. [PubMed 22365631]
    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.
  2. Stroke
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.81 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 145.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.52223-0.370 Picture PostScript Text
3' UTR -406.591425-0.285 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q9NVH2
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0006974 cellular response to DNA damage stimulus
GO:0016180 snRNA processing
GO:0034472 snRNA 3'-end processing
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0071479 cellular response to ionizing radiation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0032039 integrator complex


-  Descriptions from all associated GenBank mRNAs
  LF205518 - JP 2014500723-A/13021: Polycomb-Associated Non-Coding RNAs.
BC009918 - Homo sapiens integrator complex subunit 7, mRNA (cDNA clone IMAGE:2961451), containing frame-shift errors.
BC020523 - Homo sapiens integrator complex subunit 7, mRNA (cDNA clone MGC:17945 IMAGE:3917030), complete cds.
AK001598 - Homo sapiens cDNA FLJ10736 fis, clone NT2RP3001420.
AK001363 - Homo sapiens cDNA FLJ10501 fis, clone NT2RP2000412.
AK297225 - Homo sapiens cDNA FLJ55723 complete cds.
BC033918 - Homo sapiens integrator complex subunit 7, mRNA (cDNA clone MGC:17985 IMAGE:3920829), complete cds.
BC030716 - Homo sapiens integrator complex subunit 7, mRNA (cDNA clone MGC:10191 IMAGE:3909231), complete cds.
AK022509 - Homo sapiens cDNA FLJ12447 fis, clone NT2RM1000271.
KJ906104 - Synthetic construct Homo sapiens clone ccsbBroadEn_15774 INTS7 gene, encodes complete protein.
KJ898565 - Synthetic construct Homo sapiens clone ccsbBroadEn_07959 INTS7 gene, encodes complete protein.
AM392654 - Synthetic construct Homo sapiens clone IMAGE:100002404 for hypothetical protein (INTS7 gene).
CU676544 - Synthetic construct Homo sapiens gateway clone IMAGE:100020485 5' read INTS7 mRNA.
MA441095 - JP 2018138019-A/13021: Polycomb-Associated Non-Coding RNAs.
X85324 - H.sapiens mRNA for non polymorphic CAG repeat (CAG12).
AL133049 - Homo sapiens mRNA; cDNA DKFZp434E1315 (from clone DKFZp434E1315).
LF321448 - JP 2014500723-A/128951: Polycomb-Associated Non-Coding RNAs.
LF321447 - JP 2014500723-A/128950: Polycomb-Associated Non-Coding RNAs.
LF321446 - JP 2014500723-A/128949: Polycomb-Associated Non-Coding RNAs.
AL117576 - Homo sapiens mRNA; cDNA DKFZp434B168 (from clone DKFZp434B168).
JD127703 - Sequence 108727 from Patent EP1572962.
JD458009 - Sequence 439033 from Patent EP1572962.
JD069167 - Sequence 50191 from Patent EP1572962.
JD532390 - Sequence 513414 from Patent EP1572962.
JD495929 - Sequence 476953 from Patent EP1572962.
JD080904 - Sequence 61928 from Patent EP1572962.
JD431522 - Sequence 412546 from Patent EP1572962.
AK022589 - Homo sapiens cDNA FLJ12527 fis, clone NT2RM4000086.
JD432624 - Sequence 413648 from Patent EP1572962.
JD425836 - Sequence 406860 from Patent EP1572962.
LF321445 - JP 2014500723-A/128948: Polycomb-Associated Non-Coding RNAs.
LF321444 - JP 2014500723-A/128947: Polycomb-Associated Non-Coding RNAs.
LF321443 - JP 2014500723-A/128946: Polycomb-Associated Non-Coding RNAs.
LF321440 - JP 2014500723-A/128943: Polycomb-Associated Non-Coding RNAs.
LF321439 - JP 2014500723-A/128942: Polycomb-Associated Non-Coding RNAs.
LF321435 - JP 2014500723-A/128938: Polycomb-Associated Non-Coding RNAs.
BC036009 - Homo sapiens integrator complex subunit 7, mRNA (cDNA clone IMAGE:4768275), with apparent retained intron.
LF321432 - JP 2014500723-A/128935: Polycomb-Associated Non-Coding RNAs.
LF321430 - JP 2014500723-A/128933: Polycomb-Associated Non-Coding RNAs.
LF321429 - JP 2014500723-A/128932: Polycomb-Associated Non-Coding RNAs.
MA557025 - JP 2018138019-A/128951: Polycomb-Associated Non-Coding RNAs.
MA557024 - JP 2018138019-A/128950: Polycomb-Associated Non-Coding RNAs.
MA557023 - JP 2018138019-A/128949: Polycomb-Associated Non-Coding RNAs.
MA557022 - JP 2018138019-A/128948: Polycomb-Associated Non-Coding RNAs.
MA557021 - JP 2018138019-A/128947: Polycomb-Associated Non-Coding RNAs.
MA557020 - JP 2018138019-A/128946: Polycomb-Associated Non-Coding RNAs.
MA557017 - JP 2018138019-A/128943: Polycomb-Associated Non-Coding RNAs.
MA557016 - JP 2018138019-A/128942: Polycomb-Associated Non-Coding RNAs.
MA557012 - JP 2018138019-A/128938: Polycomb-Associated Non-Coding RNAs.
MA557009 - JP 2018138019-A/128935: Polycomb-Associated Non-Coding RNAs.
MA557007 - JP 2018138019-A/128933: Polycomb-Associated Non-Coding RNAs.
MA557006 - JP 2018138019-A/128932: Polycomb-Associated Non-Coding RNAs.
LF321427 - JP 2014500723-A/128930: Polycomb-Associated Non-Coding RNAs.
JD214507 - Sequence 195531 from Patent EP1572962.
MA557004 - JP 2018138019-A/128930: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NVH2 (Reactome details) participates in the following event(s):

R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B4DLZ6, B7WNP6, B7WPB6, C1orf73, INT7_HUMAN, NM_015434, NP_056249, Q8N4K7, Q8WUH5, Q9H9V3, Q9NVH2, Q9NVU5, Q9UFC6, Q9UFM3
UCSC ID: uc001hiw.2
RefSeq Accession: NM_015434
Protein: Q9NVH2 (aka INT7_HUMAN)
CCDS: CCDS1501.1, CCDS55684.1, CCDS55685.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015434.3
exon count: 20CDS single in 3' UTR: no RNA size: 4555
ORF size: 2889CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5951.00frame shift in genome: no % Coverage: 99.60
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.