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LMBRD1

GENERAL INFORMATION

Gene name

 LMBRD1

Gene description

 LMBR1 domain containing 1

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA019547
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 LMBRD1 (HGNC Symbol)

Synonyms

 bA810I22.1, C6orf209, cblF, FLJ11240

Description

 LMBR1 domain containing 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 6

Cytoband

 q13

Chromosome location (bp)

 69675802 - 69797111

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000168216 (version 83.38)

Entrez gene

 55788

UniProt

 Q9NUN5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NUN5

Antibodypedia

 LMBRD1 antibodies

PROTEIN BROWSER
LMBRD1-001
LMBRD1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
LMBRD1-001
ENSP00000359602
ENST00000370570
Q9NUN5 [Direct mapping]
Probable lysosomal cobalamin transporter
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Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005765 [lysosomal membrane]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0009235 [cobalamin metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016032 [viral process]
GO:0031419 [cobalamin binding]
GO:0044281 [small molecule metabolic process]
Show all
 467 aa
53.4 kDa 		No 7
LMBRD1-002
ENSP00000359609
ENST00000370577
Q9NUN5 [Direct mapping]
Probable lysosomal cobalamin transporter
Show all
Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   9TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005158 [insulin receptor binding]
GO:0005764 [lysosome]
GO:0005765 [lysosomal membrane]
GO:0005886 [plasma membrane]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0009235 [cobalamin metabolic process]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016032 [viral process]
GO:0031419 [cobalamin binding]
GO:0038016 [insulin receptor internalization]
GO:0044281 [small molecule metabolic process]
GO:0045334 [clathrin-coated endocytic vesicle]
GO:0046325 [negative regulation of glucose import]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 540 aa
61.4 kDa 		No 9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.