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Aliases for LMBRD1 Gene

Aliases for LMBRD1 Gene

  • LMBR1 Domain Containing 1 2 3 5
  • Nuclear Export Signal-Interacting Protein 3 4
  • HDAg-L-Interacting Protein NESI 3 4
  • C6orf209 3 4
  • NESI 3 4
  • Hepatitis Delta Antigen-L Interacting Protein 3
  • Liver Regeneration P-53 Related Protein 3
  • Chromosome 6 Open Reading Frame 209 2
  • LMBR1 Domain-Containing Protein 1 4
  • LMBD1 3
  • MAHCF 3

External Ids for LMBRD1 Gene

Previous HGNC Symbols for LMBRD1 Gene

  • C6orf209

Previous GeneCards Identifiers for LMBRD1 Gene

  • GC06M070443
  • GC06M067576
  • GC06M070385

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 cblf. Among its related pathways are Vitamin digestion and absorption and Cobalamin (Cbl, vitamin B12) transport and metabolism. GO annotations related to this gene include insulin receptor binding and 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

Regulatory Elements for LMBRD1 Gene

Enhancers for LMBRD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LMBRD1 on UCSC Golden Path with GeneCards custom track

Promoters for LMBRD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LMBRD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LMBRD1 Gene

Chromosome:
6
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

Genes around LMBRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMBRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMBRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
REFSEQ proteins:

No data available for DME Specific Peptides for LMBRD1 Gene

Domains & Families for LMBRD1 Gene

Protein Domains for LMBRD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LMBRD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUN5

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for LMBRD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMBRD1 Gene

MGI Knock Outs for LMBRD1:

Animal Model Products

miRNA for LMBRD1 Gene

miRTarBase miRNAs that target LMBRD1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 4

Gene Ontology (GO) - Cellular Components for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LMBRD1: view

Pathways & Interactions 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:0038016 insulin receptor internalization IEA --
GO:0046627 negative regulation of insulin receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with LMBRD1: view

No data available for SIGNOR curated interactions for LMBRD1 Gene

Drugs & Compounds for LMBRD1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for LMBRD1 Gene

This gene is overexpressed in Amniocyte (13.8), Skin (7.5), and Spinal cord (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with LMBRD1: view

Protein tissue co-expression partners for LMBRD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for LMBRD1 Gene

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
cow
(Bos Taurus)
Mammalia LMBRD1 35
  • 91.89 (n)
  • 93.96 (a)
LMBRD1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMBRD1 35
  • 93.96 (n)
  • 96.04 (a)
LMBRD1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmbrd1 35
  • 85.76 (n)
  • 93.47 (a)
Lmbrd1 16
Lmbrd1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LMBRD1 35
  • 99.69 (n)
  • 99.81 (a)
LMBRD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmbrd1 35
  • 85.45 (n)
  • 93.28 (a)
oppossum
(Monodelphis domestica)
Mammalia LMBRD1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves LMBRD1 35
  • 77.78 (n)
  • 82.85 (a)
LMBRD1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMBRD1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbrd1 35
  • 73.92 (n)
  • 79.38 (a)
Str.13023 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398468 35
zebrafish
(Danio rerio)
Actinopterygii lmbrd1 35
  • 67.62 (n)
  • 74.57 (a)
lmbrd1 36
  • 74 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02100 35
  • 41.41 (n)
  • 33.2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs12214456 - 69,749,384(+) CAAAG(C/T)ATACT upstream-variant-2KB, reference, missense
rs17854411 - 69,700,770(+) TCTAA(C/T)CCAAA reference, missense
VAR_029049 -
rs1026441 -- 69,675,331(-) GCTGT(A/G)TGACA downstream-variant-500B
rs1031629 -- 69,685,141(-) CAAAC(A/G)TGTGT 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

Variation tolerance for LMBRD1 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.75; 89.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMBRD1 Gene

HapMap Linkage Disequilibrium report
LMBRD1
Human Gene Mutation Database (HGMD)
LMBRD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMBRD1 Gene

Disorders for LMBRD1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LMBRD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblf type
  • methylmalonic aciduria and homocystinuria type cblf
cblf
  • methylmalonic aciduria and homocystinuria, cblf type
hepatitis
  • hepatitis a
homocystinuria
  • cbs deficiency
disorders of intracellular cobalamin metabolism
- elite association - COSMIC cancer census association via MalaCards

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

Genetic Association Database (GAD)
LMBRD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMBRD1
genes like me logo Genes that share disorders with LMBRD1: view

No data available for Genatlas for LMBRD1 Gene

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 67
  2. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. (PMID: 25535791) Deme J.C. … Coulton J.W. (Mol. Membr. Biol. 2014) 3
  3. LMBD1 protein serves as a specific adaptor for insulin receptor internalization. (PMID: 24078630) Tseng L.T. … Chang M.F. (J. Biol. Chem. 2013) 3
  4. Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. (PMID: 23175358) Huang C. … Chang M.F. (J. Virol. 2013) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for LMBRD1 Gene

Sources for LMBRD1 Gene

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