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] See more...

Aliases for HEXIM1 Gene

Aliases for HEXIM1 Gene

  • HEXIM P-TEFb Complex Subunit 1 2 3 5
  • Hexamethylene Bis-Acetamide-Inducible Protein 1 3 4
  • Estrogen Down-Regulated Gene 1 Protein 3 4
  • Hexamethylene Bisacetamide Inducible 1 2 3
  • Cardiac Lineage Protein 1 3 4
  • Menage A Quatre Protein 1 3 4
  • Protein HEXIM1 3 4
  • CLP1 3 4
  • EDG1 3 4
  • HIS1 3 4
  • MAQ1 3 4
  • Hexamethylene-Bis-Acetamide-Inducible Transcript 1 3
  • Hexamethylene Bisacetamide-Inducible Protein 3
  • Hexamethylene Bis-Acetamide Inducible 1 3
  • Hexamthylene Bis-Acetamide Inducible 1 3
  • Menage A Quatre 1 3
  • HMBA-Inducible 3

External Ids for HEXIM1 Gene

Previous GeneCards Identifiers for HEXIM1 Gene

  • GC17P040583
  • GC17P043224
  • GC17P038987

Summaries for HEXIM1 Gene

Entrez Gene Summary for HEXIM1 Gene

  • 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]

GeneCards Summary for HEXIM1 Gene

HEXIM1 (HEXIM P-TEFb Complex Subunit 1) is a Protein Coding gene. Diseases associated with HEXIM1 include Nut Midline Carcinoma. Among its related pathways are Initiation of transcription and translation elongation at the HIV-1 LTR and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include cyclin-dependent protein serine/threonine kinase inhibitor activity and snRNA binding. An important paralog of this gene is HEXIM2.

UniProtKB/Swiss-Prot Summary for HEXIM1 Gene

  • Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15713661, PubMed:15201869). In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15713661, PubMed:15201869). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).

Gene Wiki entry for HEXIM1 Gene

Additional gene information for HEXIM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEXIM1 Gene

Genomics for HEXIM1 Gene

GeneHancer (GH) Regulatory Elements for HEXIM1 Gene

Promoters and enhancers for HEXIM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEXIM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEXIM1

Top Transcription factor binding sites by QIAGEN in the HEXIM1 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx2-5

Genomic Locations for HEXIM1 Gene

Genomic Locations for HEXIM1 Gene
chr17:45,147,317-45,152,101
(GRCh38/hg38)
Size:
4,785 bases
Orientation:
Plus strand
chr17:43,224,684-43,229,468
(GRCh37/hg19)
Size:
4,785 bases
Orientation:
Plus strand

Genomic View for HEXIM1 Gene

Genes around HEXIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEXIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEXIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXIM1 Gene

Proteins for HEXIM1 Gene

  • Protein details for HEXIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94992-HEXI1_HUMAN
    Recommended name:
    Protein HEXIM1
    Protein Accession:
    O94992
    Secondary Accessions:
    • B2R8Y5

    Protein attributes for HEXIM1 Gene

    Size:
    359 amino acids
    Molecular mass:
    40623 Da
    Quaternary structure:
    • Homooligomer and heterooligomer with HEXIM2; probably dimeric (PubMed:15713661, PubMed:15965233, PubMed:16377779). 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 (PubMed:12832472, PubMed:15201869, PubMed:15169877, PubMed:16362050, PubMed:15713661, PubMed:15855166, PubMed:16377779, PubMed:17643375, PubMed:17724342). Interacts with the N-CoR complex through NCOR1 (PubMed:17452463). Interacts with ESR1 and NR3C1 (PubMed:15940264, PubMed:15941832). May interact with NF-kappa-B through RELA (PubMed:12581153). Interacts with CCNT2; mediates formation of a tripartite complex with KPNA2 (PubMed:19883659). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 non-coding RNA (PubMed:28712728).
    Miscellaneous:
    • Inhibits Tat activity which is required for HIV-1 transcription.

    Three dimensional structures from OCA and Proteopedia for HEXIM1 Gene

neXtProt entry for HEXIM1 Gene

Post-translational modifications for HEXIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEXIM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HEXIM1
  • Boster Bio Antibodies for HEXIM1

No data available for DME Specific Peptides for HEXIM1 Gene

Domains & Families for HEXIM1 Gene

Gene Families for HEXIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEXIM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEXIM1 Gene

GenScript: Design optimal peptide antigens:
  • Menage a quatre protein 1 (HEXI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94992

UniProtKB/Swiss-Prot:

HEXI1_HUMAN :
  • The coiled-coil domain mediates oligomerization.
  • Belongs to the HEXIM family.
Domain:
  • The coiled-coil domain mediates oligomerization.
Family:
  • Belongs to the HEXIM family.
genes like me logo Genes that share domains with HEXIM1: view

Function for HEXIM1 Gene

Molecular function for HEXIM1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor (PubMed:14580347, PubMed:15713661, PubMed:15201869). In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation (PubMed:12832472, PubMed:14580347, PubMed:15713661, PubMed:15201869). May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity (PubMed:15940264, PubMed:15941832, PubMed:17088550). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728).
UniProtKB/Swiss-Prot Induction:
Up-regulated by HMBA (hexamethylene bisacetamide) (at protein level). Down-regulated by estrogen.

Phenotypes From GWAS Catalog for HEXIM1 Gene

Gene Ontology (GO) - Molecular Function for HEXIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IDA,IBA 14580347
GO:0005515 protein binding IPI 12832472
GO:0017069 snRNA binding IDA 14580347
GO:0097322 7SK snRNA binding IDA,IBA 12832472
genes like me logo Genes that share ontologies with HEXIM1: view
genes like me logo Genes that share phenotypes with HEXIM1: view

Animal Models for HEXIM1 Gene

MGI Knock Outs for HEXIM1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEXIM1 Gene

Localization for HEXIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXIM1 Gene

Nucleus. Cytoplasm. Note=Binds alpha-importin and is mostly nuclear (PubMed:16362050).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEXIM1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEXIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 12581153
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IDA 12581153
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with HEXIM1: view

Pathways & Interactions for HEXIM1 Gene

genes like me logo Genes that share pathways with HEXIM1: view

Pathways by source for HEXIM1 Gene

1 Cell Signaling Technology pathway for HEXIM1 Gene

Gene Ontology (GO) - Biological Process for HEXIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 14580347
GO:0002218 activation of innate immune response IDA 28712728
GO:0002376 immune system process IEA --
GO:0007507 heart development IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with HEXIM1: view

No data available for SIGNOR curated interactions for HEXIM1 Gene

Drugs & Compounds for HEXIM1 Gene

(2) Additional Compounds for HEXIM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HEXIM1: view

Transcripts for HEXIM1 Gene

mRNA/cDNA for HEXIM1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEXIM1 Gene

No ASD Table

Relevant External Links for HEXIM1 Gene

GeneLoc Exon Structure for
HEXIM1

Expression for HEXIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HEXIM1 Gene

Protein differential expression in normal tissues from HIPED for HEXIM1 Gene

This gene is overexpressed in Lung (30.0), Blymphocyte (8.9), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HEXIM1 Gene



Protein tissue co-expression partners for HEXIM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEXIM1

SOURCE GeneReport for Unigene cluster for HEXIM1 Gene:

Hs.741758

mRNA Expression by UniProt/SwissProt for HEXIM1 Gene:

O94992-HEXI1_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in placenta. HEXIM1 and HEXIM2 are differentially expressed. Expressed in endocrine tissues.

Evidence on tissue expression from TISSUES for HEXIM1 Gene

  • Muscle(4.6)
  • Lung(4.5)
  • Adrenal gland(2.5)
  • Bone marrow(2.5)
  • Gall bladder(2.5)
  • Intestine(2.5)
  • Kidney(2.5)
  • Lymph node(2.5)
  • Pancreas(2.5)
  • Skin(2.5)
  • Spleen(2.5)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Nervous system(2.5)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with HEXIM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEXIM1 Gene

Orthologs for HEXIM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEXIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEXIM1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEXIM1 31 30
  • 90.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HEXIM1 31 30
  • 90.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hexim1 17 31 30
  • 88.01 (n)
rat
(Rattus norvegicus)
Mammalia Hexim1 30
  • 86.89 (n)
oppossum
(Monodelphis domestica)
Mammalia HEXIM1 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEXIM1 30
  • 81.36 (n)
lizard
(Anolis carolinensis)
Reptilia HEXIM1 31
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2589 30
zebrafish
(Danio rerio)
Actinopterygii hexim1 31
  • 44 (a)
OneToOne
wufd44h02 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9361 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
Species where no ortholog for HEXIM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEXIM1 Gene

ENSEMBL:
Gene Tree for HEXIM1 (if available)
TreeFam:
Gene Tree for HEXIM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEXIM1: view image

Paralogs for HEXIM1 Gene

Paralogs for HEXIM1 Gene

(1) SIMAP similar genes for HEXIM1 Gene using alignment to 1 proteins:

  • HEXI1_HUMAN
genes like me logo Genes that share paralogs with HEXIM1: view

Variants for HEXIM1 Gene

Additional dbSNP identifiers (rs#s) for HEXIM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HEXIM1 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv2062 CNV insertion 18451855
nsv527788 CNV loss 19592680
nsv828022 CNV gain 20364138
nsv953903 CNV deletion 24416366

Variation tolerance for HEXIM1 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEXIM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEXIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEXIM1 Gene

Disorders for HEXIM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HEXIM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nut midline carcinoma
  • nuclear protein in testis midline carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEXIM1

genes like me logo Genes that share disorders with HEXIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEXIM1 Gene

Publications for HEXIM1 Gene

  1. Interplay between 7SK snRNA and oppositely charged regions in HEXIM1 direct the inhibition of P-TEFb. (PMID: 16362050) Barboric M … Peterlin BM (The EMBO journal 2005) 3 4 23 54
  2. Compensatory contributions of HEXIM1 and HEXIM2 in maintaining the balance of active and inactive positive transcription elongation factor b complexes for control of transcription. (PMID: 15713661) Yik JH … Zhou Q (The Journal of biological chemistry 2005) 3 4 23 54
  3. HEXIM1 forms a transcriptionally abortive complex with glucocorticoid receptor without involving 7SK RNA and positive transcription elongation factor b. (PMID: 15941832) Shimizu N … Tanaka H (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 54
  4. Analysis of the large inactive P-TEFb complex indicates that it contains one 7SK molecule, a dimer of HEXIM1 or HEXIM2, and two P-TEFb molecules containing Cdk9 phosphorylated at threonine 186. (PMID: 15965233) Li Q … Price DH (The Journal of biological chemistry 2005) 3 4 23 54
  5. A human immunodeficiency virus type 1 Tat-like arginine-rich RNA-binding domain is essential for HEXIM1 to inhibit RNA polymerase II transcription through 7SK snRNA-mediated inactivation of P-TEFb. (PMID: 15169877) Yik JH … Zhou Q (Molecular and cellular biology 2004) 3 4 23 54

Products for HEXIM1 Gene

Sources for HEXIM1 Gene