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Aliases for LMBRD1 Gene

Aliases for LMBRD1 Gene

  • LMBR1 Domain Containing 1 2 3
  • NESI 3 4 6
  • Nuclear Export Signal-Interacting Protein 3 4
  • HDAg-L-Interacting Protein NESI 3 4
  • C6orf209 3 4
  • LMBD1 3 6
  • MAHCF 3 6
  • Hepatitis Delta Antigen-L Interacting Protein 3
  • Probable Lysosomal Cobalamin Transporter 3
  • Liver Regeneration P-53 Related Protein 3
  • Chromosome 6 Open Reading Frame 209 2
  • LMBR1 Domain-Containing Protein 1 4

External Ids for LMBRD1 Gene

Previous Symbols for LMBRD1 Gene

  • C6orf209

Summaries for LMBRD1 Gene

Entrez Gene Summary for LMBRD1 Gene

  • 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]

GeneCards Summary for LMBRD1 Gene

LMBRD1 (LMBR1 Domain Containing 1) is a Protein Coding gene. Diseases associated with LMBRD1 include methylmalonic aciduria and homocystinuria, cblf type and hepatitis. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot for LMBRD1 Gene

  • Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).

Gene Wiki entry for LMBRD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMBRD1 Gene

Genomics for LMBRD1 Gene

Genomic Location for LMBRD1 Gene

Start:
69,675,749 bp from pter
End:
69,797,157 bp from pter
Size:
121,409 bases
Orientation:
Minus strand

Genomic View for LMBRD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LMBRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMBRD1 Gene

Regulatory Elements for LMBRD1 Gene

Proteins for LMBRD1 Gene

  • Protein details for LMBRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUN5-LMBD1_HUMAN
    Recommended name:
    Probable lysosomal cobalamin transporter
    Protein Accession:
    Q9NUN5
    Secondary Accessions:
    • A8K204
    • E1P531
    • Q5VUN6
    • Q86Y70
    • Q96FW4
    • Q9BY56
    • Q9NZD6

    Protein attributes for LMBRD1 Gene

    Size:
    540 amino acids
    Molecular mass:
    61389 Da
    Quaternary structure:
    • Isoform 3 interacts with Hepatitis delta virus NES(HDAg-L).
    SequenceCaution:
    • Sequence=AAK26247.1; Type=Frameshift; Positions=137; Evidence={ECO:0000305};

    Alternative splice isoforms for LMBRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMBRD1 Gene

Proteomics data for LMBRD1 Gene at MOPED

Post-translational modifications for LMBRD1 Gene

Other Protein References for LMBRD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LMBRD1 Gene

Domains for LMBRD1 Gene

Protein Domains for LMBRD1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

LMBD1_HUMAN
Family:
  • Belongs to the LIMR family. LMBRD1 subfamily.:
    • Q9NUN5
genes like me logo Genes that share domains with LMBRD1: view

No data available for Gene Families for LMBRD1 Gene

Function for LMBRD1 Gene

Molecular function for LMBRD1 Gene

UniProtKB/Swiss-Prot Function: Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).

Gene Ontology (GO) - Molecular Function for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding IEA --
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with LMBRD1: view

miRNA for LMBRD1 Gene

miRTarBase miRNAs that target LMBRD1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for LMBRD1 Gene

Localization for LMBRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMBRD1 Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LMBRD1 Gene COMPARTMENTS Subcellular localization image for LMBRD1 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LMBRD1: view

Pathways for LMBRD1 Gene

SuperPathways for LMBRD1 Gene

genes like me logo Genes that share pathways with LMBRD1: view

Interacting Proteins for LMBRD1 Gene

Gene Ontology (GO) - Biological Process for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0016032 viral process IEA --
GO:0038016 insulin receptor internalization IEA --
genes like me logo Genes that share ontologies with LMBRD1: view

Transcripts for LMBRD1 Gene

Unigene Clusters for LMBRD1 Gene

LMBR1 domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LMBRD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2:
SP3: - - - -

Relevant External Links for LMBRD1 Gene

GeneLoc Exon Structure for
LMBRD1
ECgene alternative splicing isoforms for
LMBRD1

Expression for LMBRD1 Gene

mRNA expression in normal human tissues for LMBRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LMBRD1 Gene

SOURCE GeneReport for Unigene cluster for LMBRD1 Gene Hs.271643

mRNA Expression by UniProt/SwissProt for LMBRD1 Gene

Q9NUN5-LMBD1_HUMAN
Tissue specificity: Isoform 3 is expressed in liver.
genes like me logo Genes that share expressions with LMBRD1: view

Orthologs for LMBRD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LMBRD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMBRD1 36
  • 99.69 (n)
  • 99.81 (a)
LMBRD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LMBRD1 36
  • 91.89 (n)
  • 93.96 (a)
LMBRD1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMBRD1 36
  • 93.96 (n)
  • 96.04 (a)
LMBRD1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmbrd1 36
  • 85.76 (n)
  • 93.47 (a)
Lmbrd1 16
Lmbrd1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LMBRD1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Lmbrd1 36
  • 85.45 (n)
  • 93.28 (a)
chicken
(Gallus gallus)
Aves LMBRD1 36
  • 77.78 (n)
  • 82.85 (a)
LMBRD1 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMBRD1 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398468 36
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbrd1 36
  • 73.92 (n)
  • 79.38 (a)
Str.13023 36
zebrafish
(Danio rerio)
Actinopterygii lmbrd1 36
  • 67.62 (n)
  • 74.57 (a)
lmbrd1 37
  • 74 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02100 36
  • 41.41 (n)
  • 33.2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
OneToOne
Species with no ortholog for LMBRD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LMBRD1 Gene

ENSEMBL:
Gene Tree for LMBRD1 (if available)
TreeFam:
Gene Tree for LMBRD1 (if available)

Paralogs for LMBRD1 Gene

No data available for Paralogs for LMBRD1 Gene

Variants for LMBRD1 Gene

Sequence variations from dbSNP and Humsavar for LMBRD1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs9185 -- 69,675,817(-) ATCAT(C/T)TGTAT utr-variant-3-prime
rs12576 -- 69,675,975(+) GGTAA(G/T)TTAAA utr-variant-3-prime
rs12648 Benign 69,697,573(+) GGAGC(A/T)TCTGC missense, reference
rs921972 -- 69,699,985(-) TTATA(C/T)CAATA intron-variant
rs921973 -- 69,696,570(-) AAACA(A/G)TTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LMBRD1 Gene

Variant ID Type Subtype PubMed ID
nsv886140 CNV Gain 21882294
nsv830682 CNV Loss 17160897
esv999346 CNV Deletion 20482838
nsv819863 CNV Loss 19587683
esv2038631 CNV Deletion 18987734
esv2732253 CNV Deletion 23290073

Relevant External Links for LMBRD1 Gene

HapMap Linkage Disequilibrium report
LMBRD1
Human Gene Mutation Database (HGMD)
LMBRD1
Locus Specific Mutation Databases (LSDB)
LMBRD1

Disorders for LMBRD1 Gene

(1) OMIM Diseases for LMBRD1 Gene (612625)

UniProtKB/Swiss-Prot

LMBD1_HUMAN
  • Methylmalonic aciduria and homocystinuria type cblF (MMAHCF) [MIM:277380]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. {ECO:0000269 PubMed:19136951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LMBRD1

GeneTests
LMBRD1
GeneReviews
LMBRD1
Genetic Association Database (GAD)
LMBRD1
genes like me logo Genes that share disorders with LMBRD1: view

Publications for LMBRD1 Gene

  1. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. (PMID: 19136951) Rutsch F. … Nuernberg P. (Nat. Genet. 2009) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus. (PMID: 15956556) Wang Y.-H. … Chang M.-F. (J. Virol. 2005) 3 4

Products for LMBRD1 Gene

Sources for LMBRD1 Gene

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