LHX3

LHX3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JTN, 2RGT
Identifiers
Aliases	LHX3 , CPHD3, LIM3, M2-LIM homeobox 3
External IDs	OMIM: 600577 MGI: 102673 HomoloGene: 7814 GeneCards: LHX3
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q34.3 Start 136,196,250 bp [1] End 136,205,128 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 A3|2 18.44 cM Start 26,090,224 bp [2] End 26,098,301 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland anterior pituitary pancreatic ductal cell tibialis anterior muscle optic nerve islet of Langerhans reproductive system nucleus of brain reproductive organ popliteal artery Top expressed in pituitary gland pars intermedia pineal gland utricle pretectal area tongue pharynx median eminence meninges axial skeleton More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding metal ion binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component transcription regulator complex intracellular anatomical structure nucleus Biological process ventral spinal cord interneuron specification cell differentiation pituitary gland development regulation of transcription, DNA-templated spinal cord association neuron differentiation spinal cord motor neuron cell fate specification placenta development lung development negative regulation of apoptotic process transcription, DNA-templated positive regulation of transcription, DNA-templated animal organ morphogenesis inner ear development medial motor column neuron differentiation motor neuron axon guidance dorsal/ventral pattern formation transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II neuron differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8022 16871 Ensembl ENSG00000107187 ENSMUSG00000026934 UniProt Q9UBR4 P50481 RefSeq (mRNA) NM_014564 NM_178138 NM_001363746 NM_001039653 NM_010711 RefSeq (protein) NP_055379 NP_835258 NP_001350675 NP_001034742 NP_034841 Location (UCSC) Chr 9: 136.2 – 136.21 Mb Chr 2: 26.09 – 26.1 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

LIM/homeobox protein Lhx3 is a protein that in humans is encoded by the LHX3 gene. ^{[5] [6] [7]}

Function

LHX3 encodes a protein of a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Two transcript variants encoding distinct isoforms have been identified for this gene. ^[7]

Clinical significance

Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine. ^[7]

Interactions

LHX3 has been shown to interact with Ldb1. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000107187 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026934 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Sloop KW, Meier BC, Bridwell JL, Parker GE, Schiller AM, Rhodes SJ (Jan 2000). "Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties". Mol Endocrinol. 13 (12): 2212–25. doi: 10.1210/me.13.12.2212 . PMID   10598593.
6. Sloop KW, Showalter AD, Von Kap-Herr C, Pettenati MJ, Rhodes SJ (May 2000). "Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9". Gene. 245 (2): 237–43. doi:10.1016/S0378-1119(00)00025-1. PMID   10717474.
7. "Entrez Gene: LHX3 LIM homeobox 3".
8. Jurata LW, Pfaff SL, Gill GN (February 1998). "The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors". J. Biol. Chem. 273 (6): 3152–7. doi: 10.1074/jbc.273.6.3152 . PMID   9452425.

Further reading

• Zhadanov AB, Bertuzzi S, Taira M, et al. (1995). "Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues". Dev. Dyn. 202 (4): 354–64. doi:10.1002/aja.1002020405. PMID   7626792. S2CID   36677316.
• Zhadanov AB, Copeland NG, Gilbert DJ, et al. (1995). "Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3". Genomics. 27 (1): 27–32. doi:10.1006/geno.1995.1004. PMID   7665181.
• Jurata LW, Pfaff SL, Gill GN (1998). "The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors". J. Biol. Chem. 273 (6): 3152–7. doi: 10.1074/jbc.273.6.3152 . PMID   9452425.
• Bach I, Rodriguez-Esteban C, Carrière C, et al. (1999). "RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex". Nat. Genet. 22 (4): 394–9. doi:10.1038/11970. PMID   10431247. S2CID   22326394.
• Glenn DJ, Maurer RA (2000). "MRG1 binds to the LIM domain of Lhx2 and may function as a coactivator to stimulate glycoprotein hormone alpha-subunit gene expression". J. Biol. Chem. 274 (51): 36159–67. doi: 10.1074/jbc.274.51.36159 . PMID   10593900.
• Howard PW, Maurer RA (2000). "Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors". J. Biol. Chem. 275 (18): 13336–42. doi: 10.1074/jbc.275.18.13336 . PMID   10788441.
• Parker GE, Sandoval RM, Feister HA, et al. (2000). "The homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrix". J. Biol. Chem. 275 (31): 23891–8. doi: 10.1074/jbc.M000377200 . PMID   10818088.
• Netchine I, Sobrier ML, Krude H, et al. (2000). "Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency". Nat. Genet. 25 (2): 182–6. doi:10.1038/76041. PMID   10835633. S2CID   12358307.
• Schmitt S, Biason-Lauber A, Betts D, Schoenle EJ (2000). "Genomic structure, chromosomal localization, and expression pattern of the human LIM-homeobox3 (LHX 3) gene". Biochem. Biophys. Res. Commun. 274 (1): 49–56. doi:10.1006/bbrc.2000.3038. PMID   10903894.
• Sloop KW, Dwyer CJ, Rhodes SJ (2001). "An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form". J. Biol. Chem. 276 (39): 36311–9. doi: 10.1074/jbc.M103888200 . PMID   11470784.
• Ostendorff HP, Peirano RI, Peters MA, et al. (2002). "Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors". Nature. 416 (6876): 99–103. Bibcode:2002Natur.416...99O. doi:10.1038/416099a. PMID   11882901. S2CID   4426785.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• van Meyel DJ, Thomas JB, Agulnick AD (2003). "Ssdp proteins bind to LIM-interacting co-factors and regulate the activity of LIM-homeodomain protein complexes in vivo". Development. 130 (9): 1915–25. doi: 10.1242/dev.00389 . PMID   12642495.
• Kim SS, Kim Y, Shin YL, et al. (2004). "Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging". Horm. Res. 60 (6): 277–83. doi:10.1159/000074245. PMID   14646405. S2CID   31256955.
• Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID   14714741. S2CID   45542882.
• West BE, Parker GE, Savage JJ, et al. (2004). "Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor". Endocrinology. 145 (11): 4866–79. doi: 10.1210/en.2004-0598 . PMID   15271874.
• Parker GE, West BE, Witzmann FA, Rhodes SJ (2005). "Serine/threonine/tyrosine phosphorylation of the LHX3 LIM-homeodomain transcription factor". J. Cell. Biochem. 94 (1): 67–80. doi:10.1002/jcb.20287. PMID   15517599. S2CID   41303062.
• Sobrier ML, Attié-Bitach T, Netchine I, et al. (2006). "Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development". Gene Expr. Patterns. 5 (2): 279–84. doi:10.1016/j.modgep.2004.07.003. PMID   15567726.

External links

• LHX3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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