Human Gene HEXIM1 (uc002iig.3)
  Description: Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.
RefSeq Summary (NM_006460): Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]. 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 chr17:43,224,684-43,229,468 Size: 4,785 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr17:43,226,558-43,227,637 Size: 1,080 Coding Exon Count: 1 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:43,224,684-43,229,468)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HEXI1_HUMAN
DESCRIPTION: RecName: Full=Protein HEXIM1; AltName: Full=Cardiac lineage protein 1; AltName: Full=Estrogen down-regulated gene 1 protein; AltName: Full=Hexamethylene bis-acetamide-inducible protein 1; AltName: Full=Menage a quatre protein 1;
FUNCTION: Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity.
SUBUNIT: Homooligomer and heterooligomer with HEXIM2; probably dimeric. Component of the 7SK snRNP complex at least composed of P-TEFb (composed of CDK9 and CCNT1/cyclin-T1), HEXIM1, HEXIM2, BCDIN3, SART3 proteins and 7SK and U6 snRNAs. Interacts with the N-CoR complex through NCOR1. Interacts with ESR1 and NR3C1. May interact with NF-kappa-B through RELA.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Binds alpha- importin and is mostly nuclear.
TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in placenta. HEXIM1 and HEXIM2 are differentially expressed. Expressed in endocrine tissues.
INDUCTION: Up-regulated by HMBA (hexamethylene bisacetamide) (at protein level). Down-regulated by estrogen.
DOMAIN: The coiled-coil domain mediates oligomerization.
MISCELLANEOUS: Inhibits Tat activity which is required for HIV-1 transcription.
SIMILARITY: Belongs to the HEXIM family.

-  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): HEXIM1
CDC HuGE Published Literature: HEXIM1
Positive Disease Associations: systolic blood pressure
Related Studies:
  1. systolic blood pressure
    Newton-Cheh ,et al. 2009, Genome-wide association study identifies eight loci associated with blood pressure, Nature genetics 2009 . [PubMed 19430483]

-  MalaCards Disease Associations
  MalaCards Gene Search: HEXIM1
Diseases sorted by gene-association score: hiv-1 (3)

-  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: 19.10 RPKM in Adrenal Gland
Total median expression: 619.64 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 -717.291874-0.383 Picture PostScript Text
3' UTR -488.961831-0.267 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
IPR024872 - HEXIM

Pfam Domains:
PF15313 - Hexamethylene bis-acetamide-inducible protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2GD7 - NMR MuPIT 3S9G - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O94992
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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 orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity
GO:0005515 protein binding
GO:0017069 snRNA binding
GO:0097322 7SK snRNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0002218 activation of innate immune response
GO:0002376 immune system process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007507 heart development
GO:0045087 innate immune response
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:1901798 positive regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK023624 - Homo sapiens cDNA FLJ13562 fis, clone PLACE1008080, highly similar to Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.
JD453727 - Sequence 434751 from Patent EP1572962.
AB021179 - Homo sapiens mRNA for HEXIM1 protein, complete cds.
JD471284 - Sequence 452308 from Patent EP1572962.
JD057369 - Sequence 38393 from Patent EP1572962.
JD178275 - Sequence 159299 from Patent EP1572962.
BC006460 - Homo sapiens hexamethylene bis-acetamide inducible 1, mRNA (cDNA clone MGC:1880 IMAGE:3535529), complete cds.
JD329719 - Sequence 310743 from Patent EP1572962.
JD057594 - Sequence 38618 from Patent EP1572962.
JD454721 - Sequence 435745 from Patent EP1572962.
JD077127 - Sequence 58151 from Patent EP1572962.
JD566186 - Sequence 547210 from Patent EP1572962.
JD481062 - Sequence 462086 from Patent EP1572962.
JD406185 - Sequence 387209 from Patent EP1572962.
JD540049 - Sequence 521073 from Patent EP1572962.
AK313557 - Homo sapiens cDNA, FLJ94118, Homo sapiens HMBA-inducible (HIS1), mRNA.
JD059851 - Sequence 40875 from Patent EP1572962.
AB464566 - Synthetic construct DNA, clone: pF1KB9606, Homo sapiens HEXIM1 gene for hexamethylene bis-acetamide inducible 1, without stop codon, in Flexi system.
DQ896158 - Synthetic construct Homo sapiens clone IMAGE:100010618; FLH263706.01L; RZPDo839G07151D hexamethylene bis-acetamide inducible 1 (HEXIM1) gene, encodes complete protein.
DQ896603 - Synthetic construct Homo sapiens clone IMAGE:100011063; FLH195830.01L; RZPDo839G10151D hexamethylene bis-acetamide inducible 1 (HEXIM1) gene, encodes complete protein.
DQ893272 - Synthetic construct clone IMAGE:100005902; FLH195834.01X; RZPDo839G10152D hexamethylene bis-acetamide inducible 1 (HEXIM1) gene, encodes complete protein.
CU675415 - Synthetic construct Homo sapiens gateway clone IMAGE:100019079 5' read HEXIM1 mRNA.
KJ898257 - Synthetic construct Homo sapiens clone ccsbBroadEn_07651 HEXIM1 gene, encodes complete protein.
JD509367 - Sequence 490391 from Patent EP1572962.
JD225473 - Sequence 206497 from Patent EP1572962.
JD234466 - Sequence 215490 from Patent EP1572962.
JD360362 - Sequence 341386 from Patent EP1572962.
JD168086 - Sequence 149110 from Patent EP1572962.
JD544768 - Sequence 525792 from Patent EP1572962.
JD502269 - Sequence 483293 from Patent EP1572962.
JD410379 - Sequence 391403 from Patent EP1572962.
JD354664 - Sequence 335688 from Patent EP1572962.
JD552250 - Sequence 533274 from Patent EP1572962.
JD481329 - Sequence 462353 from Patent EP1572962.
JD379072 - Sequence 360096 from Patent EP1572962.
JD122289 - Sequence 103313 from Patent EP1572962.
JD260413 - Sequence 241437 from Patent EP1572962.
JD559090 - Sequence 540114 from Patent EP1572962.
JD359753 - Sequence 340777 from Patent EP1572962.
JD430637 - Sequence 411661 from Patent EP1572962.
JD170756 - Sequence 151780 from Patent EP1572962.
JD170048 - Sequence 151072 from Patent EP1572962.
JD305481 - Sequence 286505 from Patent EP1572962.
JD313969 - Sequence 294993 from Patent EP1572962.
JD245902 - Sequence 226926 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8Y5, CLP1, EDG1, HEXI1_HUMAN, HIS1, MAQ1, NM_006460, NP_006451, O94992
UCSC ID: uc002iig.3
RefSeq Accession: NM_006460
Protein: O94992 (aka HEXI1_HUMAN)
CCDS: CCDS11495.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006460.2
exon count: 1CDS single in 3' UTR: no RNA size: 4785
ORF size: 1080CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1499.50frame shift in genome: no % Coverage: 100.00
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.