InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-85432

LIM homeobox transcription factor 1, beta

IDBP-85434

LIM homeobox transcription factor 1, beta

IDBP-591723

LIM homeobox transcription factor 1, beta

IDBP-586525

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

ENSMUSG00000038765

View Gene Order

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