Seroatlas · Human Serome Atlas

LRBA

Lipopolysaccharide-responsive and beige-like anchor protein

Also known as: BGL, CDC4L, LAB300, LBA, LRBA_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P50851
Gene: LRBA
Ensembl: ENSG00000198589
Chromosome: 4
Canonical length: 2863 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

2863 residues, UniProt reviewed canonical sequence.

>P50851|LRBA
     1  MASEDNRVPS PPPTGDDGGG GGREETPTEG GALSLKPGLP IRGIRMKFAV LTGLVEVGEV
    61  SNRDIVETVF NLLVGGQFDL EMNFIIQEGE SINCMVDLLE KCDITCQAEV WSMFTAILKK
   121  SIRNLQVCTE VGLVEKVLGK IEKVDNMIAD LLVDMLGVLA SYNLTVRELK LFFSKLQGDK
   181  GRWPPHAGKL LSVLKHMPQK YGPDAFFNFP GKSAAAIALP PIAKWPYQNG FTFHTWLRMD
   241  PVNNINVDKD KPYLYCFRTS KGLGYSAHFV GGCLIVTSIK SKGKGFQHCV KFDFKPQKWY
   301  MVTIVHIYNR WKNSELRCYV NGELASYGEI TWFVNTSDTF DKCFLGSSET ADANRVFCGQ
   361  MTAVYLFSEA LNAAQIFAIY QLGLGYKGTF KFKAESDLFL AEHHKLLLYD GKLSSAIAFT
   421  YNPRATDAQL CLESSPKDNP SIFVHSPHAL MLQDVKAVLT HSIQSAMHSI GGVQVLFPLF
   481  AQLDYRQYLS DEIDLTICST LLAFIMELLK NSIAMQEQML ACKGFLVIGY SLEKSSKSHV
   541  SRAVLELCLA FSKYLSNLQN GMPLLKQLCD HVLLNPAIWI HTPAKVQLML YTYLSTEFIG
   601  TVNIYNTIRR VGTVLLIMHT LKYYYWAVNP QDRSGITPKG LDGPRPNQKE MLSLRAFLLM
   661  FIKQLVMKDS GVKEDELQAI LNYLLTMHED DNLMDVLQLL VALMSEHPNS MIPAFDQRNG
   721  LRVIYKLLAS KSEGIRVQAL KAMGYFLKHL APKRKAEVML GHGLFSLLAE RLMLQTNLIT
   781  MTTYNVLFEI LIEQIGTQVI HKQHPDPDSS VKIQNPQILK VIATLLRNSP QCPESMEVRR
   841  AFLSDMIKLF NNSRENRRSL LQCSVWQEWM LSLCYFNPKN SDEQKITEMV YAIFRILLYH
   901  AVKYEWGGWR VWVDTLSITH SKVTFEIHKE NLANIFREQQ GKVDEEIGLC SSTSVQAASG
   961  IRRDINVSVG SQQPDTKDSP VCPHFTTNGN ENSSIEKTSS LESASNIELQ TTNTSYEEMK
  1021  AEQENQELPD EGTLEETLTN ETRNADDLEV SSDIIEAVAI SSNSFITTGK DSMTVSEVTA
  1081  SISSPSEEDA SEMPEFLDKS IVEEEEDDDY VELKVEGSPT EEANLPTELQ DNSLSPAASE
  1141  AGEKLDMFGN DDKLIFQEGK PVTEKQTDTE TQDSKDSGIQ TMTASGSSAM SPETTVSQIA
  1201  VESDLGQMLE EGKKATNLTR ETKLINDCHG SVSEASSEQK IAKLDVSNVA TDTERLELKA
  1261  SPNVEAPQPH RHVLEISRQH EQPGQGIAPD AVNGQRRDSR STVFRIPEFN WSQMHQRLLT
  1321  DLLFSIETDI QMWRSHSTKT VMDFVNSSDN VIFVHNTIHL ISQVMDNMVM ACGGILPLLS
  1381  AATSATHELE NIEPTQGLSI EASVTFLQRL ISLVDVLIFA SSLGFTEIEA EKSMSSGGIL
  1441  RQCLRLVCAV AVRNCLECQQ HSQLKTRGDK ALKPMHSLIP LGKSAAKSPV DIVTGGISPV
  1501  RDLDRLLQDM DINRLRAVVF RDIEDSKQAQ FLALAVVYFI SVLMVSKYRD ILEPQNERHS
  1561  QSCTETGSEN ENVSLSEITP AAFSTLTTAS VEESESTSSA RRRDSGIGEE TATGLGSHVE
  1621  VTPHTAPPGV SAGPDAISEV LSTLSLEVNK SPETKNDRGN DLDTKATPSV SVSKNVNVKD
  1681  ILRSLVNIPA DGVTVDPALL PPACLGALGD LSVEQPVQFR SFDRSVIVAA KKSAVSPSTF
  1741  NTSIPTNAVS VVSSVDSAQA SDMGGESPGS RSSNAKLPSV PTVDSVSQDP VSNMSITERL
  1801  EHALEKAAPL LREIFVDFAP FLSRTLLGSH GQELLIEGTS LVCMKSSSSV VELVMLLCSQ
  1861  EWQNSIQKNA GLAFIELVNE GRLLSQTMKD HLVRVANEAE FILSRQRAED IHRHAEFESL
  1921  CAQYSADKRE DEKMCDHLIR AAKYRDHVTA TQLIQKIINI LTDKHGAWGN SAVSRPLEFW
  1981  RLDYWEDDLR RRRRFVRNPL GSTHPEATLK TAVEHVCIFK LRENSKATDE DILAKGKQSI
  2041  RSQALGNQNS ENEILLEGDD DTLSSVDEKD LENLAGPVSL STPAQLVAPS VVVKGTLSVT
  2101  SSELYFEVDE EDPNFKKIDP KILAYTEGLH GKWLFTEIRS IFSRRYLLQN TALEIFMANR
  2161  VAVMFNFPDP ATVKKVVNYL PRVGVGTSFG LPQTRRISLA SPRQLFKASN MTQRWQHREI
  2221  SNFEYLMFLN TIAGRSYNDL NQYPVFPWVI TNYESEELDL TLPTNFRDLS KPIGALNPKR
  2281  AAFFAERYES WEDDQVPKFH YGTHYSTASF VLAWLLRIEP FTTYFLNLQG GKFDHADRTF
  2341  SSISRAWRNS QRDTSDIKEL IPEFYYLPEM FVNFNNYNLG VMDDGTVVSD VELPPWAKTS
  2401  EEFVHINRLA LESEFVSCQL HQWIDLIFGY KQQGPEAVRA LNVFYYLTYE GAVNLNSITD
  2461  PVLREAVEAQ IRSFGQTPSQ LLIEPHPPRG SAMQVSPLMF TDKAQQDVIM VLKFPSNSPV
  2521  THVAANTQPG LATPAVITVT ANRLFAVNKW HNLPAHQGAV QDQPYQLPVE IDPLIASNTG
  2581  MHRRQITDLL DQSIQVHSQC FVITSDNRYI LVCGFWDKSF RVYSTDTGRL IQVVFGHWDV
  2641  VTCLARSESY IGGNCYILSG SRDATLLLWY WNGKCSGIGD NPGSETAAPR AILTGHDYEV
  2701  TCAAVCAELG LVLSGSQEGP CLIHSMNGDL LRTLEGPENC LKPKLIQASR EGHCVIFYEN
  2761  GLFCTFSVNG KLQATMETDD NIRAIQLSRD GQYLLTGGDR GVVVVRQVSD LKQLFAYPGC
  2821  DAGIRAMALS YDQRCIISGM ASGSIVLFYN DFNRWHHEYQ TRY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRBA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 35 nTPM
choroid plexus: 27 nTPM
breast: 24 nTPM
kidney: 24 nTPM
skin: 24 nTPM
prostate: 22 nTPM

Single-cell type

hematopoietic stem cells: 1,843 nCPM
renal collecting duct principal cells: 1,612 nCPM
distal convoluted tubule cells: 1,527 nCPM
choroid plexus epithelial cells: 1,222 nCPM
loop of henle epithelial cells: 1,056 nCPM
megakaryocyte-erythroid progenitors: 1,009 nCPM

Immune cell

gdT-cell: 7.5 nTPM
basophil: 6.8 nTPM
memory B-cell: 6.4 nTPM
memory CD8 T-cell: 6.4 nTPM
T-reg: 5.8 nTPM
naive CD8 T-cell: 5.2 nTPM

Brain region

choroid plexus: 66 nTPM
pons: 33 nTPM
cerebellum: 31 nTPM
white matter: 31 nTPM
medulla oblongata: 29 nTPM
midbrain: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRBA.

Disease | AllUniProt

Conditions LRBA is implicated in, by any mechanism.

Immunodeficiency, common variable, 8, with autoimmunity (CVID8) MIM:614700

Disease | GeneticClinVar

185 pathogenic / likely-pathogenic of 2,508 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined immunodeficiency due to LRBA deficiency
LRBA deficiency
Inherited Immunodeficiency Diseases
Severe combined immunodeficiency due to CORO1A deficiency
LRBA-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.42
gnomAD pLI: 0
gnomAD missense Z: 0.69
DepMap mean gene effect: 0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein kinase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LRBA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LRBA as an antibody target. Whether an autoantibody or antibody against LRBA could matter depends on whether native LRBA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LRBA is annotated at the cell surface, where native LRBA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label LRBA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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