LMBRD1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic positivity. Strong staining was observed in adrenal cortical cells and in neuronal cells. Squamous epithelia were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA019547
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

55788

UniProt

Q9NUN5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NUN5

Antibodypedia

LMBRD1 antibodies


PROTEIN BROWSER

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ENST00000370570
 
ENST00000370577
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMBRD1-001 ENSP00000359602
ENST00000370570
Q9NUN5
Show all »
Show » Show » 467 53.4 No 7
LMBRD1-002 ENSP00000359609
ENST00000370577
Q9NUN5
Show all »
Show » Show » 540 61.4 No 9