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

Gene ID: 55788, updated on 20-Dec-2019

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
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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (69674010..69797010, 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 Sharpr-MPRA regulatory region 12937 Neighboring gene adhesion G protein-coupled receptor B3 Neighboring gene Sharpr-MPRA regulatory region 3236 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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_016012.2 RefSeqGene

    Range
    74607..197607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AL358133, AL583831, AL590702
    Consensus CDS
    CCDS87415.1
    Related
    ENSP00000497302.1, ENST00000648394.1
    Conserved Domains (1) summary
    pfam04791
    Location:28328
    LMBR1; LMBR1-like membrane protein
  2. NM_001367271.1NP_001354200.1  probable lysosomal cobalamin transporter isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AL358133, AL583831, AL590702
    Related
    ENSP00000497387.1, ENST00000649679.1
    Conserved Domains (1) summary
    pfam04791
    Location:28328
    LMBR1; LMBR1-like membrane protein
  3. NM_001367272.1NP_001354201.1  probable lysosomal cobalamin transporter isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AK290069, AL358133, AL590702
    Related
    ENSP00000359602.1, ENST00000370570.6
    Conserved Domains (1) summary
    pfam04791
    Location:28328
    LMBR1; LMBR1-like membrane protein
  4. NM_018368.4NP_060838.3  probable lysosomal cobalamin transporter isoform 1

    See identical proteins and their annotated locations for NP_060838.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL358133, AL583831, BC047073, BJ995961, DA028310
    Consensus CDS
    CCDS4969.1
    UniProtKB/Swiss-Prot
    Q9NUN5
    Related
    ENSP00000497690.1, ENST00000649934.3
    Conserved Domains (1) summary
    pfam04791
    Location:20401
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    69674010..69797010 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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