• Gene id: 4009

Gene Summary

• Gene Symbol: LMX1A   Gene   UCSC   Ensembl
• Aliases: DFNA7, LMX1, LMX1.1
• Gene name: LIM homeobox transcription factor 1 alpha
• Alternate names: LIM homeobox transcription factor 1-alpha, LIM/homeobox protein 1.1,
• Gene location: 1q23.3 (165356714: 165201866)     Exons: 12     NC_000001.11
• Gene summary(Entrez): This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons
• OMIM: 611600

Protein Summary

• Protein general information: Q8TE12  
  • Name: LIM homeobox transcription factor 1 alpha (LIM/homeobox protein 1.1) (LMX 1.1) (LIM/homeobox protein LMX1A)
  • Length: 382  
  • Mass: 42747
  • Tissue specificity: Isoform 1 is expressed in many tissues. Not found in heart, liver, spleen and testis. Relatively highly expressed in fetal brain. Isoform LMX1A-4AB is expressed in testis. {ECO
• Sequence:

  MLDGLKMEENFQSAIDTSASFSSLLGRAVSPKSVCEGCQRVILDRFLLRLNDSFWHEQCVQCASCKEPLETTCFY
  RDKKLYCKYDYEKLFAVKCGGCFEAIAPNEFVMRAQKSVYHLSCFCCCVCERQLQKGDEFVLKEGQLLCKGDYEK
  ERELLSLVSPAASDSGKSDDEESLCKSAHGAGKGTAEEGKDHKRPKRPRTILTTQQRRAFKASFEVSSKPCRKVR
  ETLAAETGLSVRVVQVWFQNQRAKMKKLARRQQQQQQDQQNTQRLSSAQTNGGGSAGMEGIMNPYTALPTPQQLL
  AIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPLFHDLDSDDTSLSNLGDCFLATSEAGPLQSRVGNPIDHLYSM
  QNSYFTS

• Structural information:
  • Protein Domains: (33..9-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (92..15-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR042688  IPR001781  
  • Prosite: PS00027 PS50071 PS00478 PS50023
  • CDD: cd00086 cd09370
  • STRING: ENSP00000340226
• Other Databases: GeneCards:  LMX1A  Malacards:  LMX1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	ISS	biological process
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001558	regulation of cell growth	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0021542	dentate gyrus development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray