HHEX

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HHEX
Protein HHEX PDB 2e1o.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHHEX, HEX, HMPH, HOX11L-PEN, PRH, PRHX, hematopoietically expressed homeobox
External IDsMGI: 96086 HomoloGene: 31110 GeneCards: HHEX
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for HHEX
Genomic location for HHEX
Band10q23.33Start92,689,951 bp[1]
End92,695,646 bp[1]
RNA expression pattern
PBB GE HHEX 204689 at fs.png

PBB GE HHEX 215933 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002729

NM_008245

RefSeq (protein)

NP_002720

NP_032271

Location (UCSC)Chr 10: 92.69 – 92.7 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Hematopoietically-expressed homeobox protein HHEX is a protein that in humans is encoded by the HHEX gene.[4][5][6]

This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation.[6]

Function[edit]

The HHEX transcription factor acts as a promoter in some instances and an inhibitor others.[7][8] It interacts with a number of other signaling molecules to play an important role in the development of multiple organs, such as the liver, thyroid and forebrain.[9] HHEX serves to repress VEGFA, another protein which is important in endothelial cell development.[10] SCL, a significant transcription factor for blood and endothelial cell differentiation, is shown to interact with HHEX to promote the correct development of the hematopoiesis process.[11] HHEX appears to work together with another molecule, β-catenin, for the development of the anterior organizer.[12] It also contributes to developmental remodeling and stabilization of endothelial cells in an unborn organism.[10] The importance of this transcription factor is illustrated by the inability of HHEX knockout mice embryos to survive gestation. Without the expression of HHEX, these mice embryos die in utero between Day 13 and Day 16.[10] HHEX knockout mice display a range of abnormalities including forebrain abnormalities in various levels of severity, as well as a number of other defects including heart, vasculature, liver, monocyte, and thyroid abnormalities.[9][10]

Interactions[edit]

HHEX has been shown to interact with Promyelocytic leukemia protein.[13]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152804 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Bedford FK, Ashworth A, Enver T, Wiedemann LM (Mar 1993). "HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human". Nucleic Acids Research. 21 (5): 1245–9. doi:10.1093/nar/21.5.1245. PMC 309289Freely accessible. PMID 8096636. 
  5. ^ Hromas R, Radich J, Collins S (Sep 1993). "PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cells". Biochemical and Biophysical Research Communications. 195 (2): 976–83. doi:10.1006/bbrc.1993.2140. PMID 8103988. 
  6. ^ a b "Entrez Gene: HHEX hematopoietically expressed homeobox". 
  7. ^ Denson LA, Karpen SJ, Bogue CW, Jacobs HC (Aug 2000). "Divergent homeobox gene hex regulates promoter of the Na(+)-dependent bile acid cotransporter". American Journal of Physiology. Gastrointestinal and Liver Physiology. 279 (2): G347–55. PMID 10915644. 
  8. ^ Brickman JM, Jones CM, Clements M, Smith JC, Beddington RS (Jun 2000). "Hex is a transcriptional repressor that contributes to anterior identity and suppresses Spemann organiser function". Development. 127 (11): 2303–15. PMID 10804173. 
  9. ^ a b Martinez Barbera JP, Clements M, Thomas P, Rodriguez T, Meloy D, Kioussis D, Beddington RS (Jun 2000). "The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation". Development. 127 (11): 2433–45. PMID 10804184. 
  10. ^ a b c d Hallaq H, Pinter E, Enciso J, McGrath J, Zeiss C, Brueckner M, Madri J, Jacobs HC, Wilson CM, Vasavada H, Jiang X, Bogue CW (Oct 2004). "A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels". Development. 131 (20): 5197–209. doi:10.1242/dev.01393. PMID 15459110. 
  11. ^ Liao W, Ho CY, Yan YL, Postlethwait J, Stainier DY (Oct 2000). "Hhex and scl function in parallel to regulate early endothelial and blood differentiation in zebrafish". Development. 127 (20): 4303–13. PMID 11003831. 
  12. ^ Zamparini AL, Watts T, Gardner CE, Tomlinson SR, Johnston GI, Brickman JM (Sep 2006). "Hex acts with beta-catenin to regulate anteroposterior patterning via a Groucho-related co-repressor and Nodal". Development. 133 (18): 3709–22. doi:10.1242/dev.02516. PMID 16936074. 
  13. ^ Topcu Z, Mack DL, Hromas RA, Borden KL (Nov 1999). "The promyelocytic leukemia protein PML interacts with the proline-rich homeodomain protein PRH: a RING may link hematopoiesis and growth control". Oncogene. 18 (50): 7091–100. doi:10.1038/sj.onc.1203201. PMID 10597310. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.