Homo sapiens Gene: LMBR1
Summary
InnateDB Gene IDBG-50601.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMBR1
Gene Name limb region 1 homolog (mouse)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000105983
Encoded Proteins
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
limb region 1 homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:156668946-156893230
Strand Reverse strand
Band q36.3
Transcripts
ENST00000353442 ENSP00000326604
ENST00000359422 ENSP00000352392
ENST00000448926 ENSP00000403052
ENST00000415428 ENSP00000408256
ENST00000454132 ENSP00000414795
ENST00000434503 ENSP00000395754
ENST00000430278
ENST00000434278 ENSP00000413539
ENST00000444719 ENSP00000393928
ENST00000414218 ENSP00000392557
ENST00000434453 ENSP00000397698
ENST00000433968
ENST00000461603
ENST00000486837
ENST00000477983
ENST00000461469
ENST00000498034
ENST00000485985
ENST00000609081
ENST00000609774
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0042733 embryonic digit morphogenesis
Cellular Component
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.209989 Hs.594986 Hs.608875 Hs.615224 Hs.642062
RefSeq NM_022458 XM_005249555 XM_005249556 XM_005249559
HUGO
OMIM
CCDS CCDS5945
HPRD 05700
IMGT
EMBL
GenPept
RNA Seq Atlas