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

    Gene ID: 68421, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Lmbrd1provided by MGI
    Official Full Name
    LMBR1 domain containing 1provided by MGI
    Primary source
    MGI:MGI:1915671
    See related
    Ensembl:ENSMUSG00000073725 AllianceGenome:MGI:1915671
    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
    LMBD1; 0910001K20Rik
    Summary
    Enables AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Involved in clathrin-dependent endocytosis; gastrulation; and insulin receptor internalization. Located in clathrin-coated endocytic vesicle; lysosome; and plasma membrane. Is expressed in several structures, including extraembryonic component; hepatic primordium; liver; neural ectoderm; and primitive streak. 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, Nov 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 16.7), cortex adult (RPKM 16.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lmbrd1 in Genome Data Viewer
    Location:
    1 A5; 1 10.18 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (24716073..24805382)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (24676992..24766301)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 10222 Neighboring gene ATP synthase membrane subunit 6, pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E11066 Neighboring gene STARR-seq mESC enhancer starr_00452 Neighboring gene STARR-seq mESC enhancer starr_00453 Neighboring gene STARR-seq mESC enhancer starr_00455 Neighboring gene predicted gene 9443 Neighboring gene predicted gene 29414

    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. Single allele Lmbrd1 knockout results in cardiac hypertrophy. Tseng LT, et al. J Formos Med Assoc, 2018 Jun. PMID 28549591
    2. The lysosomal protein ABCD4 can transport vitamin B(12) across liposomal membranes in vitro. Kitai K, et al. J Biol Chem, 2021 Jan-Jun. PMID 33845046, Free PMC Article
    3. Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. Kawaguchi K, et al. Sci Rep, 2016 Jul 26. PMID 27456980, Free PMC Article
    4. LMBD1 protein serves as a specific adaptor for insulin receptor internalization. Tseng LT, et al. J Biol Chem, 2013 Nov 8. PMID 24078630, Free PMC Article
    5. Lmbrd1 expression is essential for the initiation of gastrulation. Buers I, et al. J Cell Mol Med, 2016 Aug. PMID 27061115, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. By studying the heterozygous knockout of Lmbrd1 (Lmbrd1(+/-)), we discovered that lack of Lmbrd1 not only resulted in the increase of cardiac-glucose uptake, pathological consequences were also observed. The results suggested that Lmbrd1 gene not only plays a significant role in mediating the energy homeostasis in cardiac tissue, it may also be a key factor in the regulation of cardiac function in mice.
      Title: Single allele Lmbrd1 knockout results in cardiac hypertrophy.
    2. the physiological function of LMBRD1 during embryogenesis, is reported.
      Title: Lmbrd1 expression is essential for the initiation of gastrulation.
    3. LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR.
      Title: LMBD1 protein serves as a specific adaptor for insulin receptor internalization.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables clathrin heavy chain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables insulin receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in insulin receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lysosomal cobalamin transport escort protein LMBD1
    Names
    LMBR1 domain-containing protein 1
    probable lysosomal cobalamin transporter
    protein N90b

    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_001310483.1 → NP_001297412.1  lysosomal cobalamin transport escort protein LMBD1 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
      ENSMUSP00000092672.5, ENSMUST00000095062.10
      Conserved Domains (1) summary
      pfam04791
      Location:28 → 328
      LMBR1; LMBR1-like membrane protein

    2. NM_026719.2 → NP_080995.2  lysosomal cobalamin transport escort protein LMBD1 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
      Q3U696, Q8CCL7, Q8K0B2, Q8R3D6, Q8VH50, Q9CW67
      Related
      ENSMUSP00000140783.2, ENSMUST00000191471.7
      Conserved Domains (1) summary
      pfam04791
      Location:17 → 398
      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_000067.7 Reference GRCm39 C57BL/6J

      Range
      24716073..24805382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017322292.3 → XP_017177781.1  lysosomal cobalamin transport escort protein LMBD1 isoform X1

      Conserved Domains (1) summary
      pfam04791
      Location:14 → 397
      LMBR1; LMBR1-like membrane protein

    2. XM_030242602.2 → XP_030098462.1  lysosomal cobalamin transport escort protein LMBD1 isoform X2

      Conserved Domains (1) summary
      pfam04791
      Location:28 → 327
      LMBR1; LMBR1-like membrane protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K0B2.1 GenPept UniProtKB/Swiss-Prot:Q8K0B2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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