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    Lmbrd1 LMBR1 domain containing 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 246046, updated on 4-Jan-2025

    Summary

    Official Symbol
    Lmbrd1provided by RGD
    Official Full Name
    LMBR1 domain containing 1provided by RGD
    Primary source
    RGD:708471
    See related
    EnsemblRapid:ENSRNOG00000012178 AllianceGenome:RGD:708471
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    LMBD1
    Summary
    Predicted to enable several functions, including AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Predicted to be involved in gastrulation; protein localization to lysosome; and receptor-mediated endocytosis. Predicted to be located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum membrane; and lysosome. Predicted to be active in lysosomal membrane. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblF. Orthologous to human LMBRD1 (LMBR1 domain containing 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in Brain (RPKM 336.3), Kidney (RPKM 266.6) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Lmbrd1 in Genome Data Viewer
    Location:
    9q21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (34592723..34674425)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (27096387..27178095)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (30939555..31038381)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134480563 Neighboring gene collagen type XIX alpha 1 chain Neighboring gene ADP-ribosylation factor-like protein 3 pseudogene Neighboring gene ribosomal protein L11, pseudogene 11 Neighboring gene uncharacterized LOC134480282

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding  
    enables AP-2 adaptor complex binding  
    enables clathrin heavy chain binding  
    enables clathrin heavy chain binding  
    enables cobalamin binding  
    enables insulin receptor binding  
    enables protein transporter activity  
    Process Evidence Code Pubs
    involved_in clathrin-dependent endocytosis  
    involved_in clathrin-dependent endocytosis  
    involved_in gastrulation  
    involved_in gastrulation  
    involved_in insulin receptor internalization  
    involved_in insulin receptor internalization  
    involved_in protein localization to lysosome  
    involved_in protein localization to lysosome  
    involved_in protein localization to lysosome  
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle  
    located_in clathrin-coated endocytic vesicle  
    located_in clathrin-coated vesicle  
    located_in clathrin-coated vesicle  
    located_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum membrane  
    located_in intracellular membrane-bounded organelle  
    is_active_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosome  
    located_in plasma membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    lysosomal cobalamin transport escort protein LMBD1
    Names
    LMBR1 domain-containing protein 1
    liver regeneration p-53 related protein
    probable lysosomal cobalamin transporter

    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_139189.2NP_631928.2  lysosomal cobalamin transport escort protein LMBD1

      See identical proteins and their annotated locations for NP_631928.2

      Status: PROVISIONAL

      Source sequence(s)
      BC078723
      UniProtKB/Swiss-Prot
      Q6AZ61, Q8R3Z8
      UniProtKB/TrEMBL
      A6JJC1, A6JJC2
      Related
      ENSRNOP00000106228.1, ENSRNOT00000133337.1
      Conserved Domains (1) summary
      pfam04791
      Location:14398
      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_086027.1 Reference GRCr8

      Range
      34592723..34674425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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