Human Gene INTS4 (uc001oys.3)
  Description: Homo sapiens integrator complex subunit 4 (INTS4), mRNA.
RefSeq Summary (NM_033547): INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr11:77,589,766-77,705,717 Size: 115,952 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr11:77,589,995-77,705,689 Size: 115,695 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:77,589,766-77,705,717)mRNA (may differ from genome)Protein (963 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INT4_HUMAN
DESCRIPTION: RecName: Full=Integrator complex subunit 4; Short=Int4;
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.
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.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the Integrator subunit 4 family.
SIMILARITY: Contains 8 HEAT repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): INTS4
CDC HuGE Published Literature: INTS4
Positive Disease Associations: Amyotrophic Lateral Sclerosis , Waist Circumference , Waist-Hip Ratio
Related Studies:
  1. Amyotrophic Lateral Sclerosis
    Jennifer C Schymick et al. Lancet neurology 2007, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data., Lancet neurology. [PubMed 17362836]
    We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
  2. Waist Circumference
    , , . [PubMed 0]
  3. Waist-Hip Ratio
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: INTS4
Diseases sorted by gene-association score: leigh syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 8.14 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 194.13 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 -4.9028-0.175 Picture PostScript Text
3' UTR -50.10229-0.219 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

Pfam Domains:
PF12765 - HEAT repeat associated with sister chromatid cohesion

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on Q96HW7
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 BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

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

Biological Process:
GO:0016180 snRNA processing
GO:0042795 snRNA transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0032039 integrator complex


-  Descriptions from all associated GenBank mRNAs
  AF172822 - Homo sapiens MSTP093 (MST093) mRNA, complete cds.
BC009859 - Homo sapiens integrator complex subunit 4, mRNA (cDNA clone IMAGE:3928539), partial cds.
AL834171 - Homo sapiens mRNA; cDNA DKFZp762N2115 (from clone DKFZp762N2115).
BC015664 - Homo sapiens integrator complex subunit 4, mRNA (cDNA clone MGC:23264 IMAGE:4554197), complete cds.
AX810697 - Sequence 21 from Patent EP1333092.
BC008013 - Homo sapiens integrator complex subunit 4, mRNA (cDNA clone IMAGE:3532726), partial cds.
BC006369 - Homo sapiens integrator complex subunit 4, mRNA (cDNA clone IMAGE:4138084), partial cds.
AK290866 - Homo sapiens cDNA FLJ76790 complete cds.
DQ596928 - Homo sapiens piRNA piR-34994, complete sequence.
KJ903581 - Synthetic construct Homo sapiens clone ccsbBroadEn_12975 INTS4 gene, encodes complete protein.
JD037518 - Sequence 18542 from Patent EP1572962.
BC009995 - Homo sapiens integrator complex subunit 4, mRNA (cDNA clone MGC:16733 IMAGE:4129693), complete cds.
KJ903580 - Synthetic construct Homo sapiens clone ccsbBroadEn_12974 INTS4 gene, encodes complete protein.
EU446555 - Synthetic construct Homo sapiens clone IMAGE:100070139; IMAGE:100011764; FLH258165.01L integrator complex subunit 4 (INTS4) gene, encodes complete protein.
CU677385 - Synthetic construct Homo sapiens gateway clone IMAGE:100022469 5' read INT4 mRNA.
CU679559 - Synthetic construct Homo sapiens gateway clone IMAGE:100019716 5' read INT4 mRNA.
AK000455 - Homo sapiens cDNA FLJ20448 fis, clone KAT05340.
BC018672 - Homo sapiens cDNA clone IMAGE:4280013.

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

Protein Q96HW7 (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: INT4_HUMAN, MSTP093, NM_033547, NP_291025, Q2YD62, Q6PJG4, Q7Z4E7, Q96G32, Q96GA1, Q96HW7, Q9BRC0
UCSC ID: uc001oys.3
RefSeq Accession: NM_033547
Protein: Q96HW7 (aka INT4_HUMAN)
CCDS: CCDS31644.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_033547.3
exon count: 23CDS single in 3' UTR: no RNA size: 3163
ORF size: 2892CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5984.00frame shift in genome: no % Coverage: 99.56
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.