Seroatlas · Human Serome Atlas

LAMB3

Laminin subunit beta-3

Also known as: BM600-125kDa, kalinin-140kDa, LAMB3_HUMAN, LAMNB1, nicein-125kDa

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

Protein identityUniProt · HPA

UniProt accession: Q13751
Gene: LAMB3
Ensembl: ENSG00000196878
Chromosome: 1
Canonical length: 1172 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Vesicles
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1172 residues, UniProt reviewed canonical sequence.

>Q13751|LAMB3
     1  MRPFFLLCFA LPGLLHAQQA CSRGACYPPV GDLLVGRTRF LRASSTCGLT KPETYCTQYG
    61  EWQMKCCKCD SRQPHNYYSH RVENVASSSG PMRWWQSQND VNPVSLQLDL DRRFQLQEVM
   121  MEFQGPMPAG MLIERSSDFG KTWRVYQYLA ADCTSTFPRV RQGRPQSWQD VRCQSLPQRP
   181  NARLNGGKVQ LNLMDLVSGI PATQSQKIQE VGEITNLRVN FTRLAPVPQR GYHPPSAYYA
   241  VSQLRLQGSC FCHGHADRCA PKPGASAGPS TAVQVHDVCV CQHNTAGPNC ERCAPFYNNR
   301  PWRPAEGQDA HECQRCDCNG HSETCHFDPA VFAASQGAYG GVCDNCRDHT EGKNCERCQL
   361  HYFRNRRPGA SIQETCISCE CDPDGAVPGA PCDPVTGQCV CKEHVQGERC DLCKPGFTGL
   421  TYANPQGCHR CDCNILGSRR DMPCDEESGR CLCLPNVVGP KCDQCAPYHW KLASGQGCEP
   481  CACDPHNSLS PQCNQFTGQC PCREGFGGLM CSAAAIRQCP DRTYGDVATG CRACDCDFRG
   541  TEGPGCDKAS GRCLCRPGLT GPRCDQCQRG YCNRYPVCVA CHPCFQTYDA DLREQALRFG
   601  RLRNATASLW SGPGLEDRGL ASRILDAKSK IEQIRAVLSS PAVTEQEVAQ VASAILSLRR
   661  TLQGLQLDLP LEEETLSLPR DLESLDRSFN GLLTMYQRKR EQFEKISSAD PSGAFRMLST
   721  AYEQSAQAAQ QVSDSSRLLD QLRDSRREAE RLVRQAGGGG GTGSPKLVAL RLEMSSLPDL
   781  TPTFNKLCGN SRQMACTPIS CPGELCPQDN GTACGSRCRG VLPRAGGAFL MAGQVAEQLR
   841  GFNAQLQRTR QMIRAAEESA SQIQSSAQRL ETQVSASRSQ MEEDVRRTRL LIQQVRDFLT
   901  DPDTDAATIQ EVSEAVLALW LPTDSATVLQ KMNEIQAIAA RLPNVDLVLS QTKQDIARAR
   961  RLQAEAEEAR SRAHAVEGQV EDVVGNLRQG TVALQEAQDT MQGTSRSLRL IQDRVAEVQQ
  1021  VLRPAEKLVT SMTKQLGDFW TRMEELRHQA RQQGAEAVQA QQLAEGASEQ ALSAQEGFER
  1081  IKQKYAELKD RLGQSSMLGE QGARIQSVKT EAEELFGETM EMMDRMKDME LELLRGSQAI
  1141  MLRSADLTGL EKRVEQIRDH INGRVLYYAT CK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LAMB3 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

stomach: 69 nTPM
urinary bladder: 68 nTPM
esophagus: 45 nTPM
small intestine: 41 nTPM
skin: 41 nTPM
salivary gland: 40 nTPM

Single-cell type

urothelial cells: 612 nCPM
salivary basal cells: 602 nCPM
endometrial secretory cells: 601 nCPM
epididymal basal cells: 424 nCPM
ocular epithelial cells: 395 nCPM
foveolar cells: 340 nCPM

Immune cell

neutrophil: 0.8 nTPM
myeloid DC: 0.5 nTPM
classical monocyte: 0.1 nTPM
intermediate monocyte: 0.1 nTPM
NK-cell: 0.1 nTPM
basophil: 0 nTPM

Brain region

cerebral cortex: 42 nTPM
white matter: 5.6 nTPM
basal ganglia: 5.3 nTPM
hypothalamus: 4.3 nTPM
hippocampal formation: 4 nTPM
thalamus: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LAMB3.

Disease | AllUniProt

Conditions LAMB3 is implicated in, by any mechanism.

Epidermolysis bullosa, junctional 1B, severe (JEB1B) MIM:226700
Epidermolysis bullosa, junctional 1A, intermediate (JEB1A) MIM:226650
Amelogenesis imperfecta 1A (AI1A) MIM:104530

Disease | GeneticClinVar

309 pathogenic / likely-pathogenic of 1,558 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on LAMB3 was assayed in.

type 1 diabetes mellitus T cell

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): 0.74
gnomAD pLI: 0
gnomAD missense Z: -0.52
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

structural molecule activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LAMB3 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 LAMB3 as an antibody target. Whether an autoantibody or antibody against LAMB3 could matter depends on whether native LAMB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LAMB3 is annotated as secreted, so native LAMB3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label LAMB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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