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    Lmbrd1 LMBR1 domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 68421, updated on 27-Jan-2018

    Summary

    Official Symbol
    Lmbrd1provided by MGI
    Official Full Name
    LMBR1 domain containing 1provided by MGI
    Primary source
    MGI:MGI:1915671
    See related
    Ensembl:ENSMUSG00000073725 Vega:OTTMUSG00000046322
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AV347960; 0910001K20Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 16.7), cortex adult (RPKM 16.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Lmbrd1 in Genome Data Viewer
    Location:
    1; 1 A5
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (24678042..24766301)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (24685383..24823146)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene predicted gene 10222 Neighboring gene ATP synthase F0 subunit 6 pseudogene Neighboring gene predicted gene 9443 Neighboring gene predicted gene 29414

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    insulin receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable lysosomal cobalamin transporter
    Names
    LMBR1 domain-containing protein 1
    protein N90b

    NCBI Reference Sequences (RefSeq)

    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_001310483.1NP_001297412.1  probable lysosomal cobalamin transporter isoform 2

      See identical proteins and their annotated locations for NP_001297412.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1, which results in translation from a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC116997, AC153019, AK158982
      Consensus CDS
      CCDS78556.1
      UniProtKB/Swiss-Prot
      Q8K0B2
      Related
      ENSMUSP00000092672.4, OTTMUSP00000066760, ENSMUST00000095062.9, OTTMUST00000120745
      Conserved Domains (1) summary
      pfam04791
      Location:28328
      LMBR1; LMBR1-like membrane protein
    2. NM_026719.2NP_080995.2  probable lysosomal cobalamin transporter isoform 1

      See identical proteins and their annotated locations for NP_080995.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI504365, AK032560, AK158982, AK167080, BY291845, BY322390
      Consensus CDS
      CCDS35528.1
      UniProtKB/Swiss-Prot
      Q8K0B2
      Related
      ENSMUSP00000140783.1, OTTMUSP00000066757, ENSMUST00000191471.6, OTTMUST00000120742
      Conserved Domains (1) summary
      pfam04791
      Location:17398
      LMBR1; LMBR1-like membrane protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      24678042..24766301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017322292.1XP_017177781.1  probable lysosomal cobalamin transporter isoform X1

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