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LMX1A

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
LMX1A
Identifiers
AliasesLMX1A, LMX1, LMX1.1, LIM homeobox transcription factor 1 alpha, DFNA7
External IDsOMIM:600298;MGI:1888519;HomoloGene:24921;GeneCards:LMX1A;OMA:LMX1A - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for LMX1A
Genomic location for LMX1A
Band1q23.3Start165,201,867bp[1]
End165,356,715bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for LMX1A
Genomic location for LMX1A
Band1 H2.3|1 75.08 cMStart167,516,806bp[2]
End167,676,310bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • apex of heart

  • muscle of thigh

  • pituitary gland

  • anterior pituitary

  • gastric mucosa

  • left testis

  • rectum

  • right testis

  • subcutaneous adipose tissue
Top expressed in
  • choroid plexus of lateral ventricle

  • choroid plexus of fourth ventricle

  • otic vesicle

  • notochord

  • yolk sac

  • neural groove

  • zygote

  • neural fold

  • extraocular muscle

  • neurogenic placodes
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4009

110648

Ensembl

ENSG00000162761

ENSMUSG00000026686

UniProt

Q8TE12

Q9JKU8

RefSeq (mRNA)

NM_001033507
NM_001174069
NM_177398
NM_177399

NM_033652

RefSeq (protein)

NP_001167540
NP_796372

NP_387501

Location (UCSC)Chr 1: 165.2 – 165.36 MbChr 1: 167.52 – 167.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LIM homeobox transcription factor 1, alpha, also known asLMX1A, is aprotein which in humans is encoded by theLMX1Agene.[5][6]

Function

[edit]

Insulin is produced exclusively by thebeta cells in the islets of Langerhans in the pancreas. The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear genes that bind to specific sequences within the promoter of the insulin geneINS and interact with RNA polymerase to activate or repress transcription. LMX1 is aLIMhomeoboxtranscription factor that binds an A/T-rich sequence in the insulin promoter and stimulates transcription of insulin.[7]

Interactions

[edit]

LMX1A has been shown tointeract withTCF3[8] andLHX3.[9]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000162761Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000026686Ensembl, 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: LMX1A LIM homeobox transcription factor 1, alpha".
  6. ^German MS, Wang J, Fernald AA, Espinosa R, Le Beau MM, Bell GI (November 1994). "Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13".Genomics.24 (2):403–4.doi:10.1006/geno.1994.1639.PMID 7698771.
  7. ^"Entrez Gene: LMX1A".
  8. ^Johnson JD, Zhang W, Rudnick A, Rutter WJ, German MS (Jul 1997)."Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity".Mol. Cell. Biol.17 (7):3488–96.doi:10.1128/mcb.17.7.3488.PMC 232202.PMID 9199284.
  9. ^Jurata LW, Pfaff SL, Gill GN (Feb 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

[edit]
(1) Basic domains
(1.1) Basicleucine 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
(3.1)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


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