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

Gene ID: 55788, updated on 13-Jan-2015
Official Symbol
LMBRD1provided by HGNC
Official Full Name
LMBR1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:23038
Locus tag
BM-021
See related
Ensembl:ENSG00000168216; HPRD:12877; 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]
Orthologs
See LMBRD1 in Epigenomics, MapViewer
Location:
6q13
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC101928330 Neighboring gene brain-specific angiogenesis inhibitor 3 Neighboring gene collagen alpha-2(IV) chain-like Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 37 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 Neighboring gene collagen, type XIX, alpha 1 Neighboring gene ribosomal protein L37 pseudogene 15 Neighboring gene collagen, type IX, alpha 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11240, FLJ11854

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IEA
Inferred from Electronic Annotation
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
 
insulin receptor internalization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of glucose import IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
probable lysosomal cobalamin transporter
Names
probable lysosomal cobalamin transporter
HDAg-L-interacting protein NESI
liver regeneration p-53 related protein
nuclear export signal-interacting protein
hepatitis delta antigen-L interacting protein

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 

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

mRNA and Protein(s)

  1. NM_018368.3NP_060838.3  probable lysosomal cobalamin transporter

    See proteins identical to NP_060838.3

    Status: REVIEWED

    Source sequence(s)
    AL583831, BC047073, BJ995961, DA028310
    Consensus CDS
    CCDS4969.1
    UniProtKB/Swiss-Prot
    Q9NUN5
    Related
    ENSP00000359609, OTTHUMP00000016693, ENST00000370577, OTTHUMT00000041124
    Conserved Domains (1) summary
    pfam04791
    Location:16405
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

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

mRNA and Protein(s)

  1. XM_006715511.1XP_006715574.1  

    See proteins identical to XP_006715574.1

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    70551896..70673235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    67576549..67697877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)