Homo sapiens Gene: LMX1B
Summary
InnateDB Gene IDBG-85430.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMX1B
Gene Name LIM homeobox transcription factor 1, beta
Synonyms LMX1.2; NPS1;
Species Homo sapiens
Ensembl Gene ENSG00000136944
Encoded Proteins
LIM homeobox transcription factor 1, beta
LIM homeobox transcription factor 1, beta
LIM homeobox transcription factor 1, beta
LIM homeobox transcription factor 1, beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:126614443-126701032
Strand Forward strand
Band q33.3
Transcripts
ENST00000373474 ENSP00000362573
ENST00000355497 ENSP00000347684
ENST00000526117 ENSP00000436930
ENST00000561065 ENSP00000453580
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001764 neuron migration
GO:0002930 trabecular meshwork development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0008283 cell proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010468 regulation of gene expression
GO:0021587 cerebellum morphogenesis
GO:0021954 central nervous system neuron development
GO:0030182 neuron differentiation
GO:0030199 collagen fibril organization
GO:0030901 midbrain development
GO:0035108 limb morphogenesis
GO:0035265 organ growth
GO:0043010 camera-type eye development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071542 dopaminergic neuron differentiation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.129133
RefSeq NM_001174146 NM_001174147 NM_002316
HUGO
OMIM
CCDS CCDS55342 CCDS55343 CCDS6866
HPRD 03986
IMGT
EMBL
GenPept
RNA Seq Atlas