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    Lmbr1 limb development membrane protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362295, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Lmbr1provided by RGD
    Official Full Name
    limb development membrane protein 1provided by RGD
    Primary source
    RGD:1563910
    See related
    Ensembl:ENSRNOG00000059589 AllianceGenome:RGD:1563910
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1563910
    Summary
    Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within embryonic digit morphogenesis. Predicted to be integral component of plasma membrane. Human ortholog(s) of this gene implicated in Laurin-Sandrow syndrome; acheiropody; hypoplastic or aplastic tibia with polydactyly; and syndactyly type 4. Orthologous to human LMBR1 (limb development membrane protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Brain (RPKM 92.5), Kidney (RPKM 66.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    4q11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (6649824..6820525)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (5974687..6146348)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (2116094..2274111, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene ribosomal L24 domain containing 1, pseudogene 1 Neighboring gene nucleolar protein with MIF4G domain 1 Neighboring gene ring finger protein 32 Neighboring gene NSA2 ribosome biogenesis factor like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Ianakiev P, et al. Am J Hum Genet, 2001 Jan. PMID 11090342, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within embryonic digit 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 homolog
    Names
    limb region 1 homolog

    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_001191858.2 → NP_001178787.1  limb region 1 protein homolog

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K4B6
      Related
      ENSRNOP00000072977.2, ENSRNOT00000089327.2
      Conserved Domains (1) summary
      pfam04791
      Location:26 → 445
      LMBR1; LMBR1-like membrane protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      6649824..6820525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063286221.1 → XP_063142291.1  limb region 1 protein homolog isoform X1

    2. XM_039107740.2 → XP_038963668.1  limb region 1 protein homolog isoform X2

      UniProtKB/TrEMBL
      A0A8I5ZY94
      Conserved Domains (1) summary
      pfam04791
      Location:45 → 310
      LMBR1; LMBR1-like membrane protein

    RNA

    1. XR_010065654.1 RNA Sequence

    2. XR_010065655.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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