LMX1B

Protein-coding gene in the species Homo sapiens
LMX1B
Identifiers
AliasesLMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
External IDsOMIM: 602575 MGI: 1100513 HomoloGene: 55648 GeneCards: LMX1B
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for LMX1B
Genomic location for LMX1B
Band9q33.3Start126,613,928 bp[1]
End126,701,032 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for LMX1B
Genomic location for LMX1B
Band2 B|2 22.48 cMStart33,450,977 bp[2]
End33,530,620 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • kidney

  • skin of abdomen

  • substantia nigra

  • salivary gland

  • left ventricle

  • thymus

  • minor salivary glands

  • sigmoid colon

  • renal cortex
Top expressed in
  • hand

  • lacrimal gland

  • foot

  • renal corpuscle

  • surface ectoderm

  • substantia nigra

  • iris

  • ventral tegmental area

  • pharynx

  • abdominal wall
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • DNA binding
  • sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding
  • protein binding
  • metal ion binding
  • RNA polymerase II general transcription initiation factor activity
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • multicellular organism development
  • dopaminergic neuron differentiation
  • in utero embryonic development
  • regulation of transcription, DNA-templated
  • dorsal/ventral pattern formation
  • transcription, DNA-templated
  • neuron differentiation
  • positive regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4010

16917

Ensembl

ENSG00000136944

ENSMUSG00000038765

UniProt

O60663

O88609

RefSeq (mRNA)

NM_002316
NM_001174146
NM_001174147

NM_010725

RefSeq (protein)

NP_001167617
NP_001167618
NP_002307

NP_034855

Location (UCSC)Chr 9: 126.61 – 126.7 MbChr 2: 33.45 – 33.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.[5][6]

Function

LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.[7]

Clinical significance

Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136944 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038765 – 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. ^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta".
  6. ^ Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics. 46 (3): 520–4. doi:10.1006/geno.1997.5075. PMID 9441763.
  7. ^ Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression". Anat. Embryol. 208 (1): 7–18. doi:10.1007/s00429-003-0373-y. PMID 15007643. S2CID 24982408.
  8. ^ Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome". Nat. Genet. 19 (1): 47–50. doi:10.1038/ng0598-47. PMID 9590287. S2CID 2329971.

Further reading

  • Millá E, Hernan I, Gamundi MJ, et al. (2007). "Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma". Mol. Vis. 13: 639–48. PMC 2669506. PMID 17515884.
  • Oshimo T, Fukai K, Higashi N, et al. (2008). "A novel LMX1B nonsense mutation in a family with nail-patella syndrome". J. Dermatol. Sci. 52 (1): 57–60. doi:10.1016/j.jdermsci.2008.04.014. PMID 18562181.
  • Ham JH, Shin SJ, Joo KR, et al. (2009). "A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome". The Korean Journal of Internal Medicine. 24 (3): 274–8. doi:10.3904/kjim.2009.24.3.274. PMC 2732789. PMID 19721866.
  • Prichard ZM, Jorm AF, Mackinnon A, Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303. doi:10.1097/YPG.0b013e32816ebc9e. hdl:1885/34438. PMID 17728669. S2CID 10358616.
  • Dunston JA, Lin S, Park JW, et al. (2005). "Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome". Ann. Hum. Genet. 69 (Pt 1): 1–8. doi:10.1046/j.1529-8817.2004.00133.x. PMID 15638822. S2CID 9205742.
  • Bongers EM, de Wijs IJ, Marcelis C, et al. (2008). "Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man". Eur. J. Hum. Genet. 16 (10): 1240–4. doi:10.1038/ejhg.2008.83. PMID 18414507.
  • Morello R, Lee B (2002). "Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes". Pediatr. Res. 51 (5): 551–8. doi:10.1203/00006450-200205000-00002. PMID 11978876.
  • Zarzecki M, Nieszporek T, Chudek J, Wiecek A (2006). "[The nail-patella syndrome: rare genetically determined cause of proteinuria]". Pol. Arch. Med. Wewn. 116 (6): 1192–9. PMID 18634531.
  • Rascle A, Neumann T, Raschta AS, et al. (2009). "The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes". Exp. Cell Res. 315 (1): 76–96. doi:10.1016/j.yexcr.2008.10.012. PMID 18996370.
  • Lin Y, Zhao J, Chen S, et al. (2008). "A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family". Bone. 43 (3): 591–5. doi:10.1016/j.bone.2008.04.025. PMID 18595794.
  • Heidet L, Bongers EM, Sich M, et al. (2003). "In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys". Am. J. Pathol. 163 (1): 145–55. doi:10.1016/S0002-9440(10)63638-3. PMC 1868155. PMID 12819019.
  • Bergman O, Híkansson A, Westberg L, et al. (2009). "Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?". J Neural Transm. 116 (3): 333–8. doi:10.1007/s00702-009-0187-z. PMID 19189040. S2CID 12174130.
  • Park S, Jamshidi Y, Vaideanu D, et al. (2009). "Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes". Invest. Ophthalmol. Vis. Sci. 50 (4): 1522–30. doi:10.1167/iovs.08-2483. PMID 18952915.
  • Harendza S, Stahl RA, Schneider A (2009). "The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism". Cell. Mol. Biol. Lett. 14 (4): 679–91. doi:10.2478/s11658-009-0026-0. PMC 6275688. PMID 19562271.
  • Mishima Y, Lindgren AG, Chizhikov VV, et al. (2009). "Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth". J. Neurosci. 29 (36): 11377–84. doi:10.1523/JNEUROSCI.0969-09.2009. PMC 2765661. PMID 19741143.
  • Bongers EM, Huysmans FT, Levtchenko E, et al. (2005). "Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy". Eur. J. Hum. Genet. 13 (8): 935–46. doi:10.1038/sj.ejhg.5201446. PMID 15928687.
  • Fuchs J, Mueller JC, Lichtner P, et al. (2009). "The transcription factor PITX3 is associated with sporadic Parkinson's disease". Neurobiol. Aging. 30 (5): 731–8. doi:10.1016/j.neurobiolaging.2007.08.014. PMID 17905480. S2CID 26905615.
  • Finsterer J, Stöllberger C (2003). "LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient". Eur. Neurol. 49 (3): 186–7. doi:10.1159/000069078. PMID 12646768. S2CID 37995437.
  • Marini M, Bongers EM, Cusano R, et al. (2003). "Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome". Int. J. Mol. Med. 12 (1): 79–82. doi:10.3892/ijmm.12.1.79. PMID 12792813.
  • Balci S, Engiz O (2007). "Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis". Genet. Couns. 18 (2): 259–62. PMID 17710881.

External links

  • GeneReviews/NIH/NCBI/UW entry on Nail-Patella Syndrome
  • LIM+homeobox+transcription+factor+1+beta at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • 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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