HEXIM1 HEXIM P-TEFb complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HEXIM1provided by HGNC
Official Full Name: HEXIM P-TEFb complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:24953
See related: Ensembl:ENSG00000186834 MIM:607328; AllianceGenome:HGNC:24953
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLP1; EDG1; HIS1; MAQ1
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (45148475..45152099)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (46002353..46005981)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (43225842..43229466)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy.
Title: Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy.
HEXIM1 is an essential transcription regulator during human erythropoiesis.
Title: HEXIM1 is an essential transcription regulator during human erythropoiesis.
UHRF1 Suppresses HIV-1 Transcription and Promotes HIV-1 Latency by Competing with p-TEFb for Ubiquitination-Proteasomal Degradation of Tat.
Title: UHRF1 Suppresses HIV-1 Transcription and Promotes HIV-1 Latency by Competing with p-TEFb for Ubiquitination-Proteasomal Degradation of Tat.
Downregulation of Dihydrotestosterone and Estradiol Levels by HEXIM1.
Title: Downregulation of Dihydrotestosterone and Estradiol Levels by HEXIM1.
HEXIM1 controls P-TEFb processing and regulates drug sensitivity in triple-negative breast cancer.
Title: HEXIM1 controls P-TEFb processing and regulates drug sensitivity in triple-negative breast cancer.
Phosphorylation of the histone demethylase KDM5B and regulation of the phenotype of triple negative breast cancer.
Title: Phosphorylation of the histone demethylase KDM5B and regulation of the phenotype of triple negative breast cancer.
HEXIM1 Diffusion in the Nucleus Is Regulated by Its Interactions with Both 7SK and P-TEFb.
Title: HEXIM1 Diffusion in the Nucleus Is Regulated by Its Interactions with Both 7SK and P-TEFb.
HMBA and 4a1 induce HEXIM1 expression by inhibiting KDM5B. Upregulation of HEXIM1 expression levels plays a critical role in the inhibition of proliferation of breast cancer cells using KDM5B inhibitors.
Title: Inhibition of the histone demethylase, KDM5B, directly induces re-expression of tumor suppressor protein HEXIM1 in cancer cells.
Structural transitions in the RNA 7SK 5' hairpin and their effect on HEXIM binding have been reported.
Title: Structural transitions in the RNA 7SK 5' hairpin and their effect on HEXIM binding.
Both HEXIM1 and RAD51 promote BET inhibitor-induced fork slowing but also prevent a DNA damage response.
Title: BET Inhibition Induces HEXIM1- and RAD51-Dependent Conflicts between Transcription and Replication.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection increases HEXIM1 expression in monocyte derived macrophages	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	CDK9-CycT1-AFF1 is stimulated by HIV-1 Tat and transferred as a single complex unit to BRD4 upon stress-induced disruption of AFF1-containing 7SK snRNP (HEXIM1, MEPCE, LARP7, 7SK RNA, CDK9, CycT1, and AFF1)	PubMed
	tat	AFF1 enhances the affinity of HIV-1 Tat for CycT1, which competitively dissociates HEXIM1 and is responsible for AFF1's promotion of Tat's extraction of CDK9/CycT1 from 7SK snRNP	PubMed
	tat	HIV-1 Tat displaces HEXIM1 from Cyclin T1 in the context of the native 7SK snRNP by interacting with the Cyclin T1-binding domain (amino acid 255-359) of HEXIM1	PubMed
	tat	CDK11 depletion reduces protein expression of CDK9 and HEXIM1 and Tat transactivation of HIV-1 provirus	PubMed
	tat	A La-related protein, LARP7, is associated with P-TEFb, HEXIM1/2, MEPCE, and 7SK RNA in a large stable complex form. Knockdown of LARP7 decreases the steady-state level of 7SK, but increases free P-TEFb and enhances Tat-mediated transcription	PubMed
	tat	HIV-1 Tat-mediated release of P-TEFb from the 7SK sn RNP results in a conformational change in 7SK RNA and release of HEXIM1 from the complex	PubMed
	tat	TAR binds Tat and P-TEFb as it emerges on the nascent transcript, competitively displacing the inhibitory 7SK snRNP (HEXIM1 and LARP7) and activating the P-TEFb kinase	PubMed
	tat	HIV-1 Tat competes with HEXIM1 for binding to 7SK RNA and inhibits the formation of the P-TEFb-HEXIM1-7SK complex. Tat binds to nucleotides 10-48 of 7SK RNA	PubMed
	tat	HIV-1 Tat directly interacts with human 7SK snRNA in living cells. The 5' hairpin of human 7SK snRNA carries a conserved Tat-binding element and two HEXIM1-binding sites. Tat competes with HEXIM1 for 7SK snRNA binding	PubMed
	tat	HIV-1 Tat transactivation is effectively inhibited by co-expression of HEXIM1 or its paralog HEXIM2; HEXIM1 expression specifically represses transcription mediated by the direct activation of P-TEFb through Tat recruitment of CycT1	PubMed
	tat	MAQ1 complexes with 7SK RNA and cyclin T1 and competes with the binding of Tat to cyclin T1, suggesting the TAR RNA/Tat lentivirus system has evolved to subvert the cellular 7SK RNA/MAQ1 system	PubMed
	tat	HIV-1 Tat competes with Hexim1 (residues 255-359) for cyclin T1 binding, thus releasing P-TEFb from the inactive complex to stimulate the transcription of HIV-1 gene expression	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BCD3293 (e-PCR)
- UniSTS:12647

RH99112 (e-PCR)
- UniSTS:91019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 7SK snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables 7SK snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables P-TEFb complex binding	IDA Inferred from Direct Assay more info	PubMed
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription elongation by RNA polymerase II	IC Inferred by Curator more info	PubMed
involved_in negative regulation of transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of 7SK snRNP	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein HEXIM1

Names: HMBA-inducible; cardiac lineage protein 1; estrogen down-regulated gene 1 protein; hexamethylene bis-acetamide inducible 1; hexamethylene bis-acetamide-inducible protein 1; hexamethylene bisacetamide inducible 1; hexamethylene bisacetamide-inducible protein; hexamethylene-bis-acetamide-inducible transcript 1; hexamthylene bis-acetamide inducible 1; menage a quatre 1; menage a quatre protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006460.3 → NP_006451.1 protein HEXIM1

See identical proteins and their annotated locations for NP_006451.1

Status: REVIEWED

Source sequence(s)

AC142472

Consensus CDS

CCDS11495.1

UniProtKB/Swiss-Prot

B2R8Y5, O94992

UniProtKB/TrEMBL

B3KN49

Related

ENSP00000328773.3, ENST00000332499.4

Conserved Domains (2) summary

TIGR04211
Location:283 → 351

SH3_and_anchor; SH3 domain protein

pfam15313
Location:200 → 298

HEXIM; Hexamethylene bis-acetamide-inducible protein