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    LMBRD1 LMBR1 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55788, updated on 8-Oct-2018

    Summary

    Official Symbol
    LMBRD1provided by HGNC
    Official Full Name
    LMBR1 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23038
    See related
    Ensembl:ENSG00000168216 MIM:612625; Vega:OTTHUMG00000014985
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NESI; LMBD1; MAHCF; C6orf209
    Summary
    This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in adrenal (RPKM 45.7), kidney (RPKM 42.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See LMBRD1 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (69675749..69797157, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (70385641..70507049, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928307 Neighboring gene adhesion G protein-coupled receptor B3 Neighboring gene nucleophosmin 1 pseudogene 37 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 Neighboring gene collagen type XIX alpha 1 chain Neighboring gene ribosomal protein L37 pseudogene 15 Neighboring gene collagen type IX alpha 1 chain

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
      Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11240, FLJ11854

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cobalamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cobalamin-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    insulin receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    cobalamin transport IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    membrane HDA PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    probable lysosomal cobalamin transporter
    Names
    HDAg-L-interacting protein NESI
    hepatitis delta antigen-L interacting protein
    liver regeneration p-53 related protein
    nuclear export signal-interacting protein

    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.

    Genomic

    1. NG_016012.1 RefSeqGene

      Range
      5001..126409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363722.1NP_001350651.1  probable lysosomal cobalamin transporter isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL358133, AL583831, AL590702
      Consensus CDS
      CCDS87415.1
      Conserved Domains (1) summary
      pfam04791
      Location:28328
      LMBR1; LMBR1-like membrane protein
    2. NM_018368.3NP_060838.3  probable lysosomal cobalamin transporter

      See identical proteins and their annotated locations for NP_060838.3

      Status: REVIEWED

      Source sequence(s)
      AL583831, BC047073, BJ995961, DA028310
      Consensus CDS
      CCDS4969.1
      UniProtKB/Swiss-Prot
      Q9NUN5
      Related
      ENSP00000359609.3, OTTHUMP00000016693, ENST00000370577.8, OTTHUMT00000041124
      Conserved Domains (1) summary
      pfam04791
      Location:20401
      LMBR1; LMBR1-like membrane protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      69675749..69797157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446488.1XP_024302256.1  probable lysosomal cobalamin transporter isoform X1

      Conserved Domains (1) summary
      pfam04791
      Location:28328
      LMBR1; LMBR1-like membrane protein
    2. XM_011535941.1XP_011534243.1  probable lysosomal cobalamin transporter isoform X1

      See identical proteins and their annotated locations for XP_011534243.1

      UniProtKB/Swiss-Prot
      Q9NUN5
      Related
      ENSP00000497387.1, OTTHUMP00000016692, ENST00000649679.1, OTTHUMT00000041123
      Conserved Domains (1) summary
      pfam04791
      Location:28328
      LMBR1; LMBR1-like membrane protein
    3. XM_024446489.1XP_024302257.1  probable lysosomal cobalamin transporter isoform X1

      Related
      ENSP00000497302.1, ENST00000648394.1
      Conserved Domains (1) summary
      pfam04791
      Location:28328
      LMBR1; LMBR1-like membrane protein
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