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

Gene ID: 68421, updated on 28-Oct-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, Oct 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 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

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