LHX4

Protein-coding gene in the species Homo sapiens
LHX4
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3MMK

Identifiers
AliasesLHX4, CPHD4, LIM homeobox 4
External IDsOMIM: 602146; MGI: 101776; HomoloGene: 56497; GeneCards: LHX4; OMA:LHX4 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for LHX4
Genomic location for LHX4
Band1q25.2Start180,230,264 bp[1]
End180,278,984 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for LHX4
Genomic location for LHX4
Band1 G3|1 67.47 cMStart155,573,777 bp[2]
End155,627,430 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • buccal mucosa cell

  • sperm

  • secondary oocyte

  • testicle

  • right hemisphere of cerebellum

  • left testis

  • body of pancreas

  • rectum

  • right testis

  • stromal cell of endometrium
Top expressed in
  • pineal gland

  • urethra

  • male urethra

  • serosa of urinary bladder

  • muscle layer of urethra

  • neural layer of retina

  • epithelium of male urethra

  • Basal plate

  • rib

  • lamina propria of urinary bladder
More reference expression data
BioGPS
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
SpeciesHumanMouse
Entrez

89884

16872

Ensembl

ENSG00000121454

ENSMUSG00000026468

UniProt

Q969G2

P53776

RefSeq (mRNA)

NM_033343

NM_010712

RefSeq (protein)

NP_203129

NP_034842

Location (UCSC)Chr 1: 180.23 – 180.28 MbChr 1: 155.57 – 155.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121454 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: LHX4 LIM homeobox 4".

Further reading

  • 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.


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