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Lmbr1 limb region 1 [ Mus musculus (house mouse) ]

Gene ID: 56873, updated on 4-Jan-2025

Summary

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Official Symbol
Lmbr1provided by MGI
Official Full Name
limb region 1provided by MGI
Primary source
MGI:MGI:1861746
See related
Ensembl:ENSMUSG00000010721 AllianceGenome:MGI:1861746
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110048D14Rik
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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis adult (RPKM 2.4), CNS E18 (RPKM 2.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Lmbr1 in Genome Data Viewer
Location:
5 B1; 5
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (29434800..29583414, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (29229802..29378421, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_12726 Neighboring gene predicted gene, 35881 Neighboring gene mammal reptile conserved sequence 1 Neighboring gene STARR-seq mESC enhancer starr_12727 Neighboring gene STARR-seq mESC enhancer starr_12728 Neighboring gene mammal fish conserved sequence 3 Neighboring gene STARR-seq mESC enhancer starr_12729 Neighboring gene mammal fish conserved sequence 4 Neighboring gene ring finger protein 32 Neighboring gene predicted gene 7420 Neighboring gene mammal amphibian conserved sequence 1 Neighboring gene STARR-seq mESC enhancer starr_12732 Neighboring gene STARR-seq mESC enhancer starr_12733 Neighboring gene STARR-seq mESC enhancer starr_12734 Neighboring gene zone of polarising activity regulatory sequence 1 Neighboring gene STARR-positive B cell enhancer ABC_E9634 Neighboring gene predicted gene, 36086 Neighboring gene STARR-positive B cell enhancer ABC_E9252 Neighboring gene nucleolar protein with MIF4G domain 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. Horikoshi T, et al. J Bone Miner Metab, 2003. PMID 12491086
  2. Preformed chromatin topology assists transcriptional robustness of Shh during limb development. Paliou C, et al. Proc Natl Acad Sci U S A, 2019 Jun 18. PMID 31147463, Free PMC Article
  3. Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Clark RM, et al. Genetics, 2001 Oct. PMID 11606546, Free PMC Article
  4. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Ushiki A, et al. Nat Commun, 2021 Apr 16. PMID 33863876, Free PMC Article
  5. Developmentally regulated Shh expression is robust to TAD perturbations. Williamson I, et al. Development, 2019 Sep 30. PMID 31511252, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. disruption is associated with preaxial polydactyly
    Title: Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice.
  2. intron 5 sequence of the Lmbr1 locus contains a major limb-specific sonic hedgehog enhancer that is necessary for distal limb development
    Title: Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic hindlimb morphogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
limb region 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020295.3 → NP_064691.2  limb region 1 protein

    See identical proteins and their annotated locations for NP_064691.2

    Status: REVIEWED

    Source sequence(s)
    AC159298, AK030631, AK195974, BB614787, BM898643
    Consensus CDS
    CCDS19148.1
    UniProtKB/Swiss-Prot
    Q766D0, Q91WC6, Q9JIS9, Q9JIT0
    UniProtKB/TrEMBL
    J3QM78
    Related
    ENSMUSP00000058405.5, ENSMUST00000055195.11
    Conserved Domains (1) summary
    pfam04791
    Location:26 → 445
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    29434800..29583414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535767.5 → XP_006535830.1  limb region 1 protein isoform X4

    UniProtKB/TrEMBL
    J3QM78
    Conserved Domains (1) summary
    pfam04791
    Location:66 → 331
    LMBR1; LMBR1-like membrane protein

  2. XM_006535765.5 → XP_006535828.1  limb region 1 protein isoform X2

    See identical proteins and their annotated locations for XP_006535828.1

    UniProtKB/TrEMBL
    J3QM78
    Conserved Domains (1) summary
    pfam04791
    Location:12 → 414
    LMBR1; LMBR1-like membrane protein

  3. XM_006535764.5 → XP_006535827.1  limb region 1 protein isoform X1

    UniProtKB/TrEMBL
    J3QM78
    Related
    ENSMUSP00000142755.2, ENSMUST00000198105.5
    Conserved Domains (1) summary
    pfam04791
    Location:19 → 444
    LMBR1; LMBR1-like membrane protein

  4. XM_011249782.4 → XP_011248084.1  limb region 1 protein isoform X2

    See identical proteins and their annotated locations for XP_011248084.1

    UniProtKB/TrEMBL
    J3QM78
    Conserved Domains (1) summary
    pfam04791
    Location:12 → 414
    LMBR1; LMBR1-like membrane protein

  5. XM_006535768.5 → XP_006535831.1  limb region 1 protein isoform X5

    See identical proteins and their annotated locations for XP_006535831.1

    UniProtKB/TrEMBL
    A0A0G2JFU9, A0A0G2JFX9
    Related
    ENSMUSP00000143348.2, ENSMUST00000196321.5
    Conserved Domains (1) summary
    pfam04791
    Location:1 → 327
    LMBR1; LMBR1-like membrane protein

  6. XM_006535770.5 → XP_006535833.1  limb region 1 protein isoform X6

    UniProtKB/TrEMBL
    A0A0G2JFU9
    Conserved Domains (1) summary
    pfam04791
    Location:50 → 315
    LMBR1; LMBR1-like membrane protein

  7. XM_030254722.2 → XP_030110582.1  limb region 1 protein isoform X6

    UniProtKB/TrEMBL
    A0A0G2JFU9
    Conserved Domains (1) summary
    pfam04791
    Location:50 → 315
    LMBR1; LMBR1-like membrane protein

  8. XM_036165361.1 → XP_036021254.1  limb region 1 protein isoform X3

    UniProtKB/TrEMBL
    J3QM78
    Conserved Domains (1) summary
    pfam04791
    Location:19 → 412
    LMBR1; LMBR1-like membrane protein

  9. XM_006535771.5 → XP_006535834.1  limb region 1 protein isoform X7

    Conserved Domains (1) summary
    pfam04791
    Location:19 → 253
    LMBR1; LMBR1-like membrane protein

  10. XM_006535772.5 → XP_006535835.1  limb region 1 protein isoform X8

    Conserved Domains (1) summary
    pfam04791
    Location:19 → 251
    LMBR1; LMBR1-like membrane protein

RNA

  1. XR_004942544.1 RNA Sequence

  2. XR_004942545.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JIT0.1 GenPept UniProtKB/Swiss-Prot:Q9JIT0

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