LHX3

Protein-coding gene in the species Homo sapiens
LHX3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2JTN, 2RGT

Identifiers
AliasesLHX3, CPHD3, LIM3, M2-LIM homeobox 3
External IDsOMIM: 600577; MGI: 102673; HomoloGene: 7814; GeneCards: LHX3; OMA:LHX3 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for LHX3
Genomic location for LHX3
Band9q34.3Start136,196,250 bp[1]
End136,205,128 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for LHX3
Genomic location for LHX3
Band2 A3|2 18.44 cMStart26,090,224 bp[2]
End26,098,301 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 2: 26.09 – 26.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000107187 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "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, Dawid IB, Westphal H (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, Jenkins NA, Westphal H (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, Rodriguez-Esteban C, Carrière C, Bhushan A, Krones A, Rose DW, Glass CK (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, Bidwell JP, Rhodes SJ (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, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V (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, Schlüter A, Bossenz M, Scheffner M, Bach I (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, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (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. S2CID 6211268.
  • Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW (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, Kiratipranon P, Toomey KS, Beach LR, Colvin SC, Sloop KW, Rhodes SJ (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, Encha-Razavi F, Vekemans M, Amselem S (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

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

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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