Lrba LPS-responsive beige-like anchor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrbaprovided by MGI
Official Full Name: LPS-responsive beige-like anchorprovided by MGI
Primary source: MGI:MGI:1933162
See related: Ensembl:ENSMUSG00000028080 AllianceGenome:MGI:1933162
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lba; Lab300; D3Ertd775e
Summary: Predicted to enable protein kinase A binding activity and protein kinase binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in branchial arch; central nervous system; limb; sensory organ; and somite. Human ortholog(s) of this gene implicated in common variable immunodeficiency 8. Orthologous to human LRBA (LPS responsive beige-like anchor protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 5.1), large intestine adult (RPKM 4.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 37.83 cM

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (86130763..86690001)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (86223456..86782694)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons.
Title: LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons.
A circular RNA produced by LRBA promotes cirrhotic mouse liver regeneration through facilitating the ubiquitination degradation of p27.
Title: A circular RNA produced by LRBA promotes cirrhotic mouse liver regeneration through facilitating the ubiquitination degradation of p27.
LRBA is essential for urinary concentration and body water homeostasis.
Title: LRBA is essential for urinary concentration and body water homeostasis.
LRBA Deficiency Can Lead to Lethal Colitis That Is Diminished by SHIP1 Agonism.
Title: LRBA Deficiency Can Lead to Lethal Colitis That Is Diminished by SHIP1 Agonism.
Lrba (-/-) DCs exhibited excessive IRF3/7- and PI3K/mTORC1-dependent signaling.
Title: Enhanced susceptibility to chemically induced colitis caused by excessive endosomal TLR signaling in LRBA-deficient mice.
LRBA role in olfaction.LRBA is expressed in olfactory and vomeronasal sensory neurons.LRBA is required for the efficient subcellular localization of a lipid-anchored protein, and of a ciliary protein.
Title: The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein G(olf) to Olfactory Cilia.
LRBA deficiency is associated with a reduced abundance of radixin and Nherf2, two adaptor proteins, which are important for the mechanical stability of the basal taper region of stereocilia.
Title: The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
these studies revealed that LRBA has a critical, cell-autonomous role in promoting cytotoxic T-lymphocyte antigen-4 accumulation within CD4 effector T cells and FOXP3+ T-regulatory cells
Title: Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.
Lrba-/- mice displayed decreased cytotoxic T-lymphocyte-associated protein-4 expression by regulatory T cells and activated conventional CD4+ and CD8+ T lymphocytes, reduced frequency of peritoneal B-1a cells along with diminished interleukin-10 production and increased percentages of T follicular helper cells in Peyer's patches, but without developing overt signs of autoimmunity
Title: Immunological phenotype of the murine Lrba knockout.
These findings demonstrate that LRBA is redundant for host longevity while being essential for both host and donor-mediated immune responses and thus represents a unique and novel molecular target in transplant immunology.
Title: LRBA is Essential for Allogeneic Responses in Bone Marrow Transplantation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (8) 1 citation
Gene trapped (3)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

25.MMHAP54FLA4.seq (e-PCR)
- UniSTS:123689

01.MMHAP84FRA7.seq (e-PCR)
- UniSTS:122673

Lrba (e-PCR), detects polymorphism
- UniSTS:528239

RH126846 (e-PCR)
- UniSTS:207520

RH136346 (e-PCR)
- UniSTS:210336

RH136371 (e-PCR)
- UniSTS:210361

D3Ertd775e (e-PCR), detects polymorphism
- UniSTS:167374

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase A binding	ISA Inferred from Sequence Alignment more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within endosomal transport	TAS Traceable Author Statement more info	PubMed
involved_in mitophagy	ISO Inferred from Sequence Orthology more info
involved_in mitophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization	ISA Inferred from Sequence Alignment more info	PubMed
involved_in protein localization to phagophore assembly site	ISO Inferred from Sequence Orthology more info
involved_in protein localization to phagophore assembly site	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lipopolysaccharide-responsive and beige-like anchor protein

Names: beige-like protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001077687.1 → NP_001071155.1 lipopolysaccharide-responsive and beige-like anchor protein isoform gamma

Status: VALIDATED

Source sequence(s)

AC102270, AF187731, AF188507, AK035483, AK052148, CV556905

Consensus CDS

CCDS79934.1

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

UniProtKB/TrEMBL

A0A0A6YXX3

Related

ENSMUSP00000142179.2, ENSMUST00000192145.6

Conserved Domains (6) summary

cd00020
Location:672 → 790

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam02138
Location:2204 → 2480

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2049

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2075 → 2172

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...
NM_001077688.1 → NP_001071156.1 lipopolysaccharide-responsive and beige-like anchor protein isoform beta

Status: VALIDATED

Source sequence(s)

AC102164, AC102270, AF187731, AF188506, AF188507, AK052148, CV556905

Consensus CDS

CCDS79933.1

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

UniProtKB/TrEMBL

A0A0A6YXL6

Related

ENSMUSP00000142043.2, ENSMUST00000194759.6

Conserved Domains (9) summary

COG2319
Location:2538 → 2775

WD40; WD40 repeat [General function prediction only]

cd00020
Location:672 → 790

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam02138
Location:2204 → 2480

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2049

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2075 → 2172

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

sd00039
Location:2591 → 2627

7WD40; WD40 repeat [structural motif]

cl02567
Location:2596 → 2775

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:229 → 376

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 ...
NM_030695.2 → NP_109620.2 lipopolysaccharide-responsive and beige-like anchor protein isoform alpha

Status: VALIDATED

Source sequence(s)

AC102270, AF187731, AF188507, AK031216, AK052148, BQ031803, CV556905

Consensus CDS

CCDS38470.1

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

UniProtKB/TrEMBL

E9Q3Y4

Related

ENSMUSP00000103261.2, ENSMUST00000107635.7

Conserved Domains (9) summary

COG2319
Location:2581 → 2848

WD40; WD40 repeat [General function prediction only]

cd00020
Location:672 → 790

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam02138
Location:2204 → 2480

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2049

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2075 → 2172

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

sd00039
Location:2591 → 2627

7WD40; WD40 repeat [structural motif]

cl02567
Location:2596 → 2796

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:229 → 376

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

86130763..86690001

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006502347.4 → XP_006502410.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X1

See identical proteins and their annotated locations for XP_006502410.1

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

Conserved Domains (7) summary

sd00039
Location:2608 → 2644

7WD40; WD40 repeat [structural motif]

pfam02138
Location:2216 → 2492

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2061

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2087 → 2184

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...

cl29593
Location:2613 → 2813

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 ...
XM_006502349.4 → XP_006502412.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X2

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

Conserved Domains (7) summary

sd00039
Location:2608 → 2644

7WD40; WD40 repeat [structural motif]

pfam02138
Location:2216 → 2492

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2061

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2087 → 2184

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...

cl29593
Location:2613 → 2812

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 ...
XM_006502350.4 → XP_006502413.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X3

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

Conserved Domains (7) summary

sd00039
Location:2603 → 2639

7WD40; WD40 repeat [structural motif]

pfam02138
Location:2216 → 2492

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2061

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2087 → 2184

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...

cl29593
Location:2608 → 2808

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 ...
XM_006502351.4 → XP_006502414.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X4

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

Conserved Domains (7) summary

sd00039
Location:2596 → 2632

7WD40; WD40 repeat [structural motif]

pfam02138
Location:2204 → 2480

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2049

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2075 → 2172

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...

cl29593
Location:2601 → 2801

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 ...
XM_006502352.5 → XP_006502415.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X5

UniProtKB/TrEMBL

A0A1D5RM41

Related

ENSMUSP00000148618.2, ENSMUST00000212390.2

Conserved Domains (4) summary

pfam06469
Location:1882 → 2061

DUF1088; Domain of Unknown Function (DUF1088)

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl17171
Location:2080 → 2122

PH-like; Pleckstrin homology-like domain

cl22861
Location:229 → 376

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 ...
XM_006502348.4 → XP_006502411.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X1

See identical proteins and their annotated locations for XP_006502411.1

UniProtKB/Swiss-Prot

Q9ESD3, Q9ESD4, Q9ESE1

Conserved Domains (7) summary

sd00039
Location:2608 → 2644

7WD40; WD40 repeat [structural motif]

pfam02138
Location:2216 → 2492

Beach; Beige/BEACH domain

pfam06469
Location:1882 → 2061

DUF1088; Domain of Unknown Function (DUF1088)

pfam14844
Location:2087 → 2184

PH_BEACH; PH domain associated with Beige/BEACH

pfam15787
Location:446 → 717

DUF4704; Domain of unknown function (DUF4704)

cl22861
Location:229 → 376

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 ...

cl29593
Location:2613 → 2813

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 ...
XM_006502354.5 → XP_006502417.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X7

UniProtKB/TrEMBL

Q8BSM6

Conserved Domains (4) summary

sd00039
Location:487 → 523

7WD40; WD40 repeat [structural motif]

pfam02138
Location:95 → 371

Beach; Beige/BEACH domain

cl17171
Location:2 → 63

PH-like; Pleckstrin homology-like domain

cl29593
Location:492 → 692

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 ...
XM_006502353.3 → XP_006502416.1 lipopolysaccharide-responsive and beige-like anchor protein isoform X6

UniProtKB/TrEMBL

Q8BSM6

Related

ENSMUSP00000141734.2, ENSMUST00000195524.2

Conserved Domains (4) summary

sd00039
Location:515 → 551

7WD40; WD40 repeat [structural motif]

pfam02138
Location:123 → 399

Beach; Beige/BEACH domain

cl17171
Location:16 → 91

PH-like; Pleckstrin homology-like domain

cl29593
Location:520 → 720

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 ...