• Gene id: 10614

Gene Summary

• Gene Symbol: HEXIM1   Gene   UCSC   Ensembl
• Aliases: CLP1, EDG1, HIS1, MAQ1
• Gene name: HEXIM P-TEFb complex subunit 1
• Alternate names: protein HEXIM1, 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-induci,
• Gene location: 17q21.31 (45148474: 45152098)     Exons: 1     NC_000017.11
• Gene summary(Entrez): 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]
• OMIM: 608792

Protein Summary

• Protein general information: O94992  
  • Name: Protein HEXIM1 (Cardiac lineage protein 1) (Estrogen down regulated gene 1 protein) (Hexamethylene bis acetamide inducible protein 1) (Menage a quatre protein 1)
  • Length: 359  
  • Mass: 40623
  • Tissue specificity: Ubiquitously expressed with higher expression in placenta. HEXIM1 and HEXIM2 are differentially expressed. Expressed in endocrine tissues. {ECO
• Sequence:

  MAEPFLSEYQHQPQTSNCTGAAAVQEELNPERPPGAEERVPEEDSRWQSRAFPQLGGRPGPEGEGSLESQPPPLQ
  TQACPESSCLREGEKGQNGDDSSAGGDFPPPAEVEPTPEAELLAQPCHDSEASKLGAPAAGGEEEWGQQQRQLGK
  KKHRRRPSKKKRHWKPYYKLTWEEKKKFDEKQSLRASRIRAEMFAKGQPVAPYNTTQFLMDDHDQEEPDLKTGLY
  SKRAAAKSDDTSDDDFMEEGGEEDGGSDGMGGDGSEFLQRDFSETYERYHTESLQNMSKQELIKEYLELEKCLSR
  MEDENNRLRLESKRLGGDDARVRELELELDRLRAENLQLLTENELHRQQERAPLSKFGD

• Structural information:
  • Interpro: IPR024872  
  • PDB: 2GD7 3S9G
  • PDBsum: 2GD7 3S9G
  • DIP: 46463
  • STRING: ENSP00000328773
• Other Databases: GeneCards:  HEXIM1  Malacards:  HEXIM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	molecular function
GO:0017069	snRNA binding	IDA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:1901798	positive regulation of signal transduction by p53 class mediator	IMP	biological process
GO:0097322	7SK snRNA binding	IBA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0005654	nucleoplasm	IBA	cellular component
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0097322	7SK snRNA binding	IDA	molecular function
GO:0097322	7SK snRNA binding	IDA	molecular function
GO:0002218	activation of innate immune response	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0017069	snRNA binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq