InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LMX1B

Summary

InnateDB Protein

IDBP-85432.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LMX1B

Protein Name

LIM homeobox transcription factor 1, beta

Synonyms

LMX1.2; NPS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000362573

InnateDB Gene

IDBG-85430 (LMX1B)

Protein Structure

UniProt Annotation

Function

Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause abnormal skeletal patterning and renal dysplasia. {ECO:0000269PubMed:10571942, ECO:0000269PubMed:11668639, ECO:0000269PubMed:9590287, ECO:0000269PubMed:9618165, ECO:0000269PubMed:9837817}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.

Comments

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:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0009953	dorsal/ventral pattern formation
GO:0030182	neuron differentiation