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

Gene ID: 55788, updated on 9-Jul-2017
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; 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
Location:
6q13
Exon count:
17
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 LOC101928307 Neighboring gene adhesion G protein-coupled receptor B3 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
    Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
  • Vitamin digestion and absorption, conserved biosystem (from KEGG)
    Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
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
 
cobalamin transporter 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
 
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
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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

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 RefSeqGene

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_060838.3

    Status: REVIEWED

    Source sequence(s)
    AL583831, BC047073, BJ995961, DA028310
    Consensus CDS
    CCDS4969.1
    UniProtKB/Swiss-Prot
    Q9NUN5
    Related
    ENSP00000359609.3, OTTHUMP00000016693, ENST00000370577.7, OTTHUMT00000041124
    Conserved Domains (1) summary
    pfam04791
    Location:20401
    LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011535941.1XP_011534243.1  probable lysosomal cobalamin transporter isoform X1

    See identical proteins and their annotated locations for XP_011534243.1

    UniProtKB/Swiss-Prot
    Q9NUN5
    Related
    ENSP00000359602.1, OTTHUMP00000016692, ENST00000370570.5, OTTHUMT00000041123
    Conserved Domains (1) summary
    pfam04791
    Location:14328
    LMBR1; LMBR1-like membrane protein

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

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