This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland. Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects. An alternative splice variant has been described but its biological nature has not been determined.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000121454 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026468 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Liu Y, Fan M, Yu S, Zhou Y, Wang J, Yuan J, Qiang B (Feb 2002). "cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4". Brain Res. 928 (1–2): 147–155. doi:10.1016/S0006-8993(01)03243-7. PMID 11844481. S2CID 44298466.
^Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S (Oct 2001). "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4". Am J Hum Genet. 69 (5): 961–968. doi:10.1086/323764. PMC1274372. PMID 11567216.
Li H, Witte DP, Branford WW, et al. (1994). "Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival". EMBO J. 13 (12): 2876–85. doi:10.1002/j.1460-2075.1994.tb06582.x. PMC395169. PMID 7913017.
Howard PW, Maurer RA (2000). "Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors". J. Biol. Chem. 275 (18): 13336–13342. doi:10.1074/jbc.275.18.13336. PMID 10788441.
Kawamata N, Sakajiri S, Sugimoto KJ, et al. (2002). "A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4". Oncogene. 21 (32): 4983–4991. doi:10.1038/sj.onc.1205628. PMID 12118377.
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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
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.
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): 279–284. doi:10.1016/j.modgep.2004.07.003. PMID 15567726.
Machinis K, Amselem S (2005). "Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects". J. Clin. Endocrinol. Metab. 90 (9): 5456–5462. doi:10.1210/jc.2004-2332. PMID 15998782.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
lhx4, homeobox, protein, lhx4, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes3mmkidentifiersaliases, cphd4, homeobox, 4external, idsomim, 602146, 101776, homologene, 56497, genecards, gene, location, human. LIM homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene 5 6 7 LHX4Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes3MMKIdentifiersAliasesLHX4 CPHD4 LIM homeobox 4External IDsOMIM 602146 MGI 101776 HomoloGene 56497 GeneCards LHX4Gene location Human Chr Chromosome 1 human 1 Band1q25 2Start180 230 264 bp 1 End180 278 984 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 G3 1 67 47 cMStart155 573 777 bp 2 End155 627 430 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inspermsecondary oocytebody of pancreasrectumstromal cell of endometriumanterior pituitaryganglionic eminenceright lobe of thyroid glandtransverse colonmonocyteTop expressed inpineal glandurethramale urethraserosa of urinary bladderriblamina propria of urinary bladdermain bronchusfacial motor nucleusMeckel s cartilageouter nuclear layerMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding protein binding metal ion binding DNA binding transcription activator activity RNA polymerase II specific sequence specific DNA binding DNA binding transcription factor activity RNA polymerase II specific methyl CpG binding RNA polymerase II transcription regulatory region sequence specific DNA bindingCellular componentintracellular anatomical structure nucleusBiological processanimal organ morphogenesis medial motor column neuron differentiation negative regulation of apoptotic process regulation of transcription DNA templated motor neuron axon guidance transcription DNA templated placenta development transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II neuron differentiationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez8988416872EnsemblENSG00000121454ENSMUSG00000026468UniProtQ969G2P53776RefSeq mRNA NM 033343NM 010712RefSeq protein NP 203129NP 034842Location UCSC Chr 1 180 23 180 28 MbChr 1 155 57 155 63 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThis gene encodes a member of a large protein family which contains the LIM domain a unique cysteine rich zinc binding domain The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects An alternative splice variant has been described but its biological nature has not been determined 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000121454 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000026468 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Liu Y Fan M Yu S Zhou Y Wang J Yuan J Qiang B Feb 2002 cDNA cloning chromosomal localization and expression pattern analysis of human LIM homeobox gene LHX4 Brain Res 928 1 2 147 155 doi 10 1016 S0006 8993 01 03243 7 PMID 11844481 S2CID 44298466 Machinis K Pantel J Netchine I Leger J Camand OJ Sobrier ML Dastot Le Moal F Duquesnoy P Abitbol M Czernichow P Amselem S Oct 2001 Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4 Am J Hum Genet 69 5 961 968 doi 10 1086 323764 PMC 1274372 PMID 11567216 a b Entrez Gene LHX4 LIM homeobox 4 Further reading editLi H Witte DP Branford WW et al 1994 Gsh 4 encodes a LIM type homeodomain is expressed in the developing central nervous system and is required for early postnatal survival EMBO J 13 12 2876 85 doi 10 1002 j 1460 2075 1994 tb06582 x PMC 395169 PMID 7913017 Howard PW Maurer RA 2000 Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors J Biol Chem 275 18 13336 13342 doi 10 1074 jbc 275 18 13336 PMID 10788441 Kawamata N Sakajiri S Sugimoto KJ et al 2002 A novel chromosomal translocation t 1 14 q25 q32 in pre B acute lymphoblastic leukemia involves the LIM homeodomain protein gene Lhx4 Oncogene 21 32 4983 4991 doi 10 1038 sj onc 1205628 PMID 12118377 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 16903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 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 Sobrier ML Attie 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 2 279 284 doi 10 1016 j modgep 2004 07 003 PMID 15567726 Machinis K Amselem S 2005 Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects J Clin Endocrinol Metab 90 9 5456 5462 doi 10 1210 jc 2004 2332 PMID 15998782 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title LHX4 amp oldid 1115464340, wikipedia, wiki, book, books, library,
