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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
  • 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
  • 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 Hepatitis. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (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

Additional gene information for LMBRD1 Gene

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

Genomics for LMBRD1 Gene

GeneHancer (GH) Regulatory Elements for LMBRD1 Gene

Promoters and enhancers for LMBRD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I069795 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 550.8 +0.6 561 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 SLC30A9 ZNF766 CBX5 ZNF143 LMBRD1 GAPDHP42 GC06M069784
GH06I069756 Enhancer 0.9 dbSUPER 17.7 +36.6 36632 7.8 HDAC1 ATF1 TAF9B ARNT CHAMP1 NCOA2 TCF12 SCRT2 CREM ZBTB11 LMBRD1 GAPDHP42 COL19A1 GC06P069743 GC06M069784
GH06I069770 Enhancer 0.4 dbSUPER 12.6 +24.8 24781 2.9 GABPB1 ZNF24 LMBRD1 GAPDHP42 GC06M069784 GC06P069743
GH06I069774 Enhancer 0.2 FANTOM5 12.6 +23.0 23013 0.2 LMBRD1 GC06M069784 GAPDHP42
GH06I069812 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.4 -17.4 -17441 5.2 PKNOX1 BATF IRF4 CTBP1 GATA3 BCLAF1 IKZF2 RUNX3 SMARCE1 SOX6 COL19A1 LMBRD1 GC06P069860
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LMBRD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMBRD1 gene promoter:

Genomic Locations for LMBRD1 Gene

Genomic Locations for LMBRD1 Gene
121,409 bases
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:
    Recommended name:
    Probable lysosomal cobalamin transporter
    Protein Accession:
    Secondary Accessions:
    • A8K204
    • E1P531
    • Q5VUN6
    • Q86Y70
    • Q96FW4
    • Q9BY56
    • Q9NZD6

    Protein attributes for LMBRD1 Gene

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

    Alternative splice isoforms for LMBRD1 Gene


neXtProt entry for LMBRD1 Gene

Post-translational modifications for LMBRD1 Gene

  • N-glycosylated.
  • Glycosylation at isoforms=2, 378, isoforms=2, 388, posLast=170170, posLast=347347, isoforms=3448, and isoforms=3457
  • Modification sites at PhosphoSitePlus

Other Protein References for LMBRD1 Gene

No data available for DME Specific Peptides for LMBRD1 Gene

Domains & Families for LMBRD1 Gene

Gene Families for LMBRD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for LMBRD1 Gene


Suggested Antigen Peptide Sequences for LMBRD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

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).

Phenotypes From GWAS Catalog for LMBRD1 Gene

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
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

CRISPR Products

miRNA for LMBRD1 Gene

miRTarBase miRNAs that target LMBRD1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMBRD1 gene
Compartment Confidence
lysosome 5
plasma membrane 4
cytosol 1

Gene Ontology (GO) - Cellular Components for LMBRD1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMBRD1 Gene

Pathways & Interactions for LMBRD1 Gene

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

Interacting Proteins for LMBRD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q9NUN5-LMBD1_HUMAN ENSP00000359609 for LMBRD1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for LMBRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0016032 viral process IEA --
GO:0038016 insulin receptor internalization IEA --
GO:0046325 negative regulation of glucose import 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:

CRISPR Products

Inhibitory RNA Products

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: -
SP3: - - - -

Relevant External Links for LMBRD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LMBRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LMBRD1 Gene

Protein tissue co-expression partners for LMBRD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LMBRD1 Gene:


SOURCE GeneReport for Unigene cluster for LMBRD1 Gene:


mRNA Expression by UniProt/SwissProt for LMBRD1 Gene:

Tissue specificity: Isoform 3 is expressed in liver.

Evidence on tissue expression from TISSUES for LMBRD1 Gene

  • Nervous system(4.9)
  • Heart(4.3)
  • Bone marrow(4.2)
  • Blood(2.3)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMBRD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tongue
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LMBRD1: view

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
(Pan troglodytes)
Mammalia LMBRD1 33 34
  • 99.69 (n)
(Canis familiaris)
Mammalia LMBRD1 33 34
  • 93.96 (n)
(Bos Taurus)
Mammalia LMBRD1 33 34
  • 91.89 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
-- 34
  • 82 (a)
(Monodelphis domestica)
Mammalia LMBRD1 34
  • 88 (a)
(Mus musculus)
Mammalia Lmbrd1 33 16 34
  • 85.76 (n)
(Rattus norvegicus)
Mammalia Lmbrd1 33
  • 85.45 (n)
(Gallus gallus)
Aves LMBRD1 33 34
  • 77.78 (n)
(Anolis carolinensis)
Reptilia LMBRD1 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbrd1 33
  • 73.92 (n)
Str.13023 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398468 33
(Danio rerio)
Actinopterygii lmbrd1 33 34
  • 67.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02100 33
  • 41.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
Species where no ortholog for LMBRD1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for LMBRD1 (if available)
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 Variation AA Info Type
rs112053239 likely-benign, Disorders of Intracellular Cobalamin Metabolism 69,797,131(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs114726590 likely-benign, benign, Disorders of Intracellular Cobalamin Metabolism, not specified 69,701,878(-) A/G intron_variant
rs12648 benign, not specified, Disorders of Intracellular Cobalamin Metabolism 69,697,573(-) A/T coding_sequence_variant, missense_variant
rs143642515 uncertain-significance, likely-benign, Disorders of Intracellular Cobalamin Metabolism, not specified 69,752,280(-) A/G coding_sequence_variant, synonymous_variant
rs143758103 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 69,713,758(-) C/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2038631 CNV deletion 18987734
esv2732253 CNV deletion 23290073
esv3451372 CNV duplication 20981092
esv3609422 CNV loss 21293372
esv999346 CNV deletion 20482838
nsv474410 CNV novel sequence insertion 20440878
nsv819863 CNV loss 19587683
nsv830682 CNV loss 17160897
nsv970139 CNV duplication 23825009
nsv970140 CNV duplication 23825009

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)

Additional Variant Information for LMBRD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for LMBRD1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LMBRD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria and homocystinuria, cblf type
  • mahcf
  • hepatitis a
  • cbs deficiency
subclavian artery aneurysm
  • aneurysm of subclavian artery
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for 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 … Nürnberg P (Nature genetics 2009) 2 3 4 58
  2. Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. (PMID: 27456980) Kawaguchi K … Imanaka T (Scientific reports 2016) 2 3 58
  3. Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus. (PMID: 15956556) Wang YH … Chang MF (Journal of virology 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for LMBRD1 Gene

Sources for LMBRD1 Gene

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