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LRBA LPS responsive beige-like anchor protein [ Homo sapiens (human) ]

Gene ID: 987, updated on 7-Dec-2018

Summary

Official Symbol
LRBAprovided by HGNC
Official Full Name
LPS responsive beige-like anchor proteinprovided by HGNC
Primary source
HGNC:HGNC:1742
See related
Ensembl:ENSG00000198589 MIM:606453
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
BGL; LBA; CDC4L; CVID8; LAB300
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]
Expression
Ubiquitous expression in kidney (RPKM 10.0), thyroid (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See LRBA in Genome Data Viewer
Location:
4q31.3
Exon count:
61
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (150264515..151015727, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (151185811..151936879, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1614 Neighboring gene doublecortin like kinase 2 Neighboring gene RNA, U7 small nuclear 194 pseudogene Neighboring gene nei like DNA glycosylase 2 pseudogene Neighboring gene uncharacterized LOC729558 Neighboring gene mab-21 like 2 Neighboring gene zinc finger and BTB domain containing 8 opposite strand pseudogene 1 Neighboring gene LRBA intron ENCODE-defined enhancer Neighboring gene RNA, 5S ribosomal pseudogene 168 Neighboring gene adenylate kinase 4 pseudogene 6 Neighboring gene small nucleolar RNA, C/D box U73B (pseudogene) Neighboring gene ribosomal protein S3A

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variable immunodeficiency 8, with autoimmunity
MedGen: C3553512 OMIM: 614700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16600, FLJ25686, MGC72098, DKFZp686P2258, DKFZp686A09128, DKFZp686K03100

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lipopolysaccharide-responsive and beige-like anchor protein
Names
CDC4-like protein
LPS-responsive vesicle trafficking, beach and anchor containing
vesicle trafficking, beach and anchor containing

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_032855.1 RefSeqGene

    Range
    5214..756063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199282.2NP_001186211.2  lipopolysaccharide-responsive and beige-like anchor protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, lacks an alternate in-frame exon, and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    AF216648, AF467287
    Consensus CDS
    CCDS58928.1
    UniProtKB/Swiss-Prot
    P50851
    Related
    ENSP00000421552.1, ENST00000510413.5
    Conserved Domains (8) summary
    COG2319
    Location:25792845
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22022478
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802047
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20732170
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:25892625
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:25942833
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. NM_001364905.1NP_001351834.1  lipopolysaccharide-responsive and beige-like anchor protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092544, AC092612, AC093748, AC097373, AC104796, AC110813
    Conserved Domains (7) summary
    sd00039
    Location:25892625
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:22022478
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802047
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20732170
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    cl25539
    Location:25942834
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001367550.1NP_001354479.1  lipopolysaccharide-responsive and beige-like anchor protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC079794, AC092544, AC092612, AC093748, AC097373, AC104796, AC110813
  4. NM_006726.4NP_006717.2  lipopolysaccharide-responsive and beige-like anchor protein isoform 2

    See identical proteins and their annotated locations for NP_006717.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (2).
    Source sequence(s)
    AC092612, AF216648, AF467287
    Consensus CDS
    CCDS3773.1
    UniProtKB/Swiss-Prot
    P50851
    Related
    ENSP00000349629.3, ENST00000357115.8
    Conserved Domains (8) summary
    COG2319
    Location:25902857
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22132489
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802058
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20842181
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:26002636
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26052845
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    150264515..151015727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008872.2XP_016864361.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X3

    Conserved Domains (8) summary
    COG2319
    Location:25842851
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22022478
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802047
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20732170
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:25942630
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:25992839
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. XM_005263373.3XP_005263430.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X1

    See identical proteins and their annotated locations for XP_005263430.1

    Conserved Domains (8) summary
    COG2319
    Location:25952862
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22132489
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802058
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20842181
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:26052641
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26102850
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  3. XM_005263372.3XP_005263429.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X1

    See identical proteins and their annotated locations for XP_005263429.1

    Conserved Domains (8) summary
    COG2319
    Location:25952862
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22132489
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802058
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20842181
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:26052641
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26102850
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  4. XM_005263374.3XP_005263431.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X3

    Conserved Domains (8) summary
    COG2319
    Location:25842851
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22022478
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802047
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20732170
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:25942630
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:25992839
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  5. XM_017008873.2XP_016864362.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X5

  6. XM_017008874.1XP_016864363.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X6

    Related
    ENSP00000497002.1, ENST00000648878.1
    Conserved Domains (4) summary
    sd00039
    Location:493529
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:101377
    Beach; Beige/BEACH domain
    pfam14844
    Location:1069
    PH_BEACH; PH domain associated with Beige/BEACH
    cl25539
    Location:498738
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. XM_005263375.3XP_005263432.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X4

    Conserved Domains (7) summary
    sd00039
    Location:25892625
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:22022478
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802047
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20732170
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    cl25539
    Location:25942834
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  8. XM_011532434.2XP_011530736.1  lipopolysaccharide-responsive and beige-like anchor protein isoform X2

    See identical proteins and their annotated locations for XP_011530736.1

    UniProtKB/Swiss-Prot
    P50851
    Conserved Domains (8) summary
    COG2319
    Location:25902857
    WD40; WD40 repeat [General function prediction only]
    pfam02138
    Location:22132489
    Beach; Beige/BEACH domain
    pfam06469
    Location:18802058
    DUF1088; Domain of Unknown Function (DUF1088)
    pfam14844
    Location:20842181
    PH_BEACH; PH domain associated with Beige/BEACH
    pfam15787
    Location:446717
    DUF4704; Domain of unknown function (DUF4704)
    sd00039
    Location:26002636
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:26052845
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl22861
    Location:229376
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
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