LRBA

GENERAL INFORMATION

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Gene name

LRBA

Gene description

LPS-responsive vesicle trafficking, beach and anchor containing

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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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

Cytoplasmic expression in all tissues at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA019366 , HPA023597
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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

Skin



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

LRBA (HGNC Symbol)

Synonyms

BGL, CDC4L, LAB300, LBA

Description

LPS-responsive vesicle trafficking, beach and anchor containing (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Chromosome

4

Cytoband

q31.3

Chromosome location (bp)

150264531 - 151015727

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198589 (version 78.38)

Entrez gene

987

UniProt

P50851 (UniProt - Evidence at protein level)

neXtProt

NX_P50851

Antibodypedia

LRBA antibodies


PROTEIN BROWSER

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ENST00000357115
 
ENST00000502839
 
ENST00000507224
 
ENST00000508606
 
ENST00000509835
 
ENST00000510413
 
 
 
 


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)

LRBA-001 ENSP00000421552
ENST00000510413
P50851
Show all »
Show » Show » 2851 317.7 No 0
LRBA-002 ENSP00000349629
ENST00000357115
P50851
Show all »
Show » Show » 2863 319.1 No 0
LRBA-003 ENSP00000426669
ENST00000509835
Q7KZN3
Show all »
Show » Show » 1505 166.8 No 1
LRBA-008 ENSP00000422180
ENST00000507224
E9PEM5
Show all »
Show » Show » 2575 287 No 0
LRBA-011 ENSP00000424640
ENST00000502839
H0Y9N9
Show all »
Show » 134 15 No 0
LRBA-014 ENSP00000425852
ENST00000508606
Show » Show » 147 16.1 No 0