LHX4 Knowpia

LHX4
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3MMK
Identifiers
Aliases	LHX4, CPHD4, LIM homeobox 4
External IDs	OMIM: 602146 MGI: 101776 HomoloGene: 56497 GeneCards: LHX4
Gene location (Human)
Chr.	Chromosome 1 (human)
End	180,278,984 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	155,627,430 bp
RNA expression pattern
	Top expressed in
	sperm; ; secondary oocyte; ; body of pancreas; ; rectum; ; stromal cell of endometrium; ; anterior pituitary; ; ganglionic eminence; ; right lobe of thyroid gland; ; transverse colon; ; monocyte;
	Top expressed in
	pineal gland; ; urethra; ; male urethra; ; serosa of urinary bladder; ; rib; ; lamina propria of urinary bladder; ; main bronchus; ; facial motor nucleus; ; Meckel's cartilage; ; outer nuclear layer;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA 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 binding;
Cellular component	intracellular anatomical structure; nucleus;
Biological process	animal 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 differentiation;
	Sources:Amigo / QuickGO
Orthologs
	89884
	16872
	ENSG00000121454
	ENSMUSG00000026468
	Q969G2
	P53776
	NM_033343
	NM_010712
	NP_203129
	NP_034842
	Wikidata
View/Edit Human	View/Edit Mouse

LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene.^[5]^[6]^[7]

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]

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 edit

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. 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, 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121454 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026468 – 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.

[pmid11844481-5] 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.

[pmid11567216-6] 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.

[entrez-7] "Entrez Gene: LHX4 LIM homeobox 4".

[5]

[6]

[7]

[1]

[2]

[3]

[4]

Summary

References edit

Further reading edit