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UniProtKB - Q13751 (LAMB3_HUMAN)

Protein

Laminin subunit beta-3

Gene

LAMB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

GO - Molecular functioni

  • protein-containing complex binding Source: Ensembl
  • structural molecule activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • brown fat cell differentiation Source: Ensembl
  • cell adhesion Source: UniProtKB-KW
  • endodermal cell differentiation Source: UniProtKB
  • epidermis development Source: ProtInc
  • extracellular matrix organization Source: Reactome
  • hemidesmosome assembly Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-2214320 Anchoring fibril formation
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-446107 Type I hemidesmosome assembly
R-HSA-8874081 MET activates PTK2 signaling
SIGNORiQ13751

Names & Taxonomyi

Protein namesi
Recommended name:
Laminin subunit beta-3
Alternative name(s):
Epiligrin subunit bata
Kalinin B1 chain
Kalinin subunit beta
Laminin B1k chain
Laminin-5 subunit beta
Nicein subunit beta
Gene namesi
Name:LAMB3
Synonyms:LAMNB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000196878.12
HGNCiHGNC:6490 LAMB3
MIMi150310 gene
neXtProtiNX_Q13751

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa, junctional, Herlitz type (H-JEB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic.
See also OMIM:226700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004171679P → L in H-JEB. 1 PublicationCorresponds to variant dbSNP:rs201223111Ensembl.1
Generalized atrophic benign epidermolysis bullosa (GABEB)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
See also OMIM:226650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037310199G → A in GABEB; somatic second-site mutation. 1 PublicationCorresponds to variant dbSNP:rs121912486EnsemblClinVar.1
Natural variantiVAR_037311207K → Q in GABEB; somatic second-site mutation. 1 PublicationCorresponds to variant dbSNP:rs121912487EnsemblClinVar.1
Natural variantiVAR_004170210E → K in GABEB. 2 PublicationsCorresponds to variant dbSNP:rs121912482EnsemblClinVar.1
Amelogenesis imperfecta 1A (AI1A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration.
See also OMIM:104530

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation, Epidermolysis bullosa

Organism-specific databases

DisGeNETi3914
GeneReviewsiLAMB3
MalaCardsiLAMB3
MIMi104530 phenotype
226650 phenotype
226700 phenotype
OpenTargetsiENSG00000196878
Orphaneti79402 Generalized junctional epidermolysis bullosa, non-Herlitz type
100031 Hypoplastic amelogenesis imperfecta
79404 Junctional epidermolysis bullosa, Herlitz type
PharmGKBiPA30278

Chemistry databases

ChEMBLiCHEMBL2364187

Polymorphism and mutation databases

BioMutaiLAMB3
DMDMi2497600

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Sequence analysisAdd BLAST17
ChainiPRO_000001707118 – 1172Laminin subunit beta-3Add BLAST1155

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi250 ↔ 259PROSITE-ProRule annotation
Disulfide bondi252 ↔ 279PROSITE-ProRule annotation
Disulfide bondi281 ↔ 290PROSITE-ProRule annotation
Disulfide bondi293 ↔ 313PROSITE-ProRule annotation
Disulfide bondi316 ↔ 325PROSITE-ProRule annotation
Disulfide bondi318 ↔ 343PROSITE-ProRule annotation
Disulfide bondi346 ↔ 355PROSITE-ProRule annotation
Disulfide bondi358 ↔ 376PROSITE-ProRule annotation
Disulfide bondi379 ↔ 392PROSITE-ProRule annotation
Disulfide bondi381 ↔ 399PROSITE-ProRule annotation
Disulfide bondi401 ↔ 410PROSITE-ProRule annotation
Disulfide bondi413 ↔ 428PROSITE-ProRule annotation
Disulfide bondi431 ↔ 444PROSITE-ProRule annotation
Disulfide bondi433 ↔ 451PROSITE-ProRule annotation
Disulfide bondi453 ↔ 462PROSITE-ProRule annotation
Disulfide bondi465 ↔ 478PROSITE-ProRule annotation
Disulfide bondi481 ↔ 493PROSITE-ProRule annotation
Disulfide bondi483 ↔ 500PROSITE-ProRule annotation
Disulfide bondi502 ↔ 511PROSITE-ProRule annotation
Disulfide bondi519 ↔ 531PROSITE-ProRule annotation
Disulfide bondi534 ↔ 546PROSITE-ProRule annotation
Disulfide bondi536 ↔ 553PROSITE-ProRule annotation
Disulfide bondi555 ↔ 564PROSITE-ProRule annotation
Disulfide bondi567 ↔ 578PROSITE-ProRule annotation
Disulfide bondi581InterchainCurated
Disulfide bondi584InterchainCurated
Glycosylationi604N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi810N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1171InterchainCurated

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ13751
MaxQBiQ13751
PaxDbiQ13751
PeptideAtlasiQ13751
PRIDEiQ13751
ProteomicsDBi59674

PTM databases

iPTMnetiQ13751
PhosphoSitePlusiQ13751
SwissPalmiQ13751

Miscellaneous databases

PMAP-CutDBiQ13751

Expressioni

Tissue specificityi

Found in the basement membranes (major component).

Gene expression databases

BgeeiENSG00000196878 Expressed in 158 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_LAMB3
ExpressionAtlasiQ13751 baseline and differential
GenevisibleiQ13751 HS

Organism-specific databases

HPAiCAB078183
HPA008069

Interactioni

Subunit structurei

Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein). Interacts with ECM1.1 Publication

Protein-protein interaction databases

BioGridi110108, 22 interactors
ComplexPortaliCPX-1774 Laminin-332 complex variant A
CPX-3165 Laminin-332 complex variant B
IntActiQ13751, 21 interactors
MINTiQ13751
STRINGi9606.ENSP00000348384

Structurei

3D structure databases

ProteinModelPortaliQ13751
SMRiQ13751
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 249Laminin N-terminalPROSITE-ProRule annotationAdd BLAST228
Domaini250 – 315Laminin EGF-like 1PROSITE-ProRule annotationAdd BLAST66
Domaini316 – 378Laminin EGF-like 2PROSITE-ProRule annotationAdd BLAST63
Domaini379 – 430Laminin EGF-like 3PROSITE-ProRule annotationAdd BLAST52
Domaini431 – 480Laminin EGF-like 4PROSITE-ProRule annotationAdd BLAST50
Domaini481 – 533Laminin EGF-like 5PROSITE-ProRule annotationAdd BLAST53
Domaini534 – 580Laminin EGF-like 6PROSITE-ProRule annotationAdd BLAST47

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni579 – 785Domain IIAdd BLAST207
Regioni786 – 816Domain alphaAdd BLAST31
Regioni817 – 1170Domain IAdd BLAST354

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili723 – 757Sequence analysisAdd BLAST35
Coiled coili831 – 884Sequence analysisAdd BLAST54
Coiled coili948 – 1133Sequence analysisAdd BLAST186

Domaini

The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domain VI is globular.

Keywords - Domaini

Coiled coil, Laminin EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0994 Eukaryota
ENOG410XPEG LUCA
GeneTreeiENSGT00780000121851
HOGENOMiHOG000113279
HOVERGENiHBG052302
InParanoidiQ13751
KOiK06244
OMAiWWQSQND
OrthoDBiEOG091G019I
PhylomeDBiQ13751
TreeFamiTF352481

Family and domain databases

Gene3Di2.60.120.1490, 1 hit
InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR002049 Laminin_EGF
IPR008211 Laminin_N
IPR038684 Laminin_N_sf
PfamiView protein in Pfam
PF00053 Laminin_EGF, 6 hits
PF00055 Laminin_N, 1 hit
SMARTiView protein in SMART
SM00180 EGF_Lam, 6 hits
SM00136 LamNT, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 5 hits
PS01186 EGF_2, 1 hit
PS01248 EGF_LAM_1, 5 hits
PS50027 EGF_LAM_2, 6 hits
PS51117 LAMININ_NTER, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

Q13751-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRPFFLLCFA LPGLLHAQQA CSRGACYPPV GDLLVGRTRF LRASSTCGLT 
        60         70         80         90        100
KPETYCTQYG EWQMKCCKCD SRQPHNYYSH RVENVASSSG PMRWWQSQND 
       110        120        130        140        150
VNPVSLQLDL DRRFQLQEVM MEFQGPMPAG MLIERSSDFG KTWRVYQYLA 
       160        170        180        190        200
ADCTSTFPRV RQGRPQSWQD VRCQSLPQRP NARLNGGKVQ LNLMDLVSGI 
       210        220        230        240        250
PATQSQKIQE VGEITNLRVN FTRLAPVPQR GYHPPSAYYA VSQLRLQGSC 
       260        270        280        290        300
FCHGHADRCA PKPGASAGPS TAVQVHDVCV CQHNTAGPNC ERCAPFYNNR 
       310        320        330        340        350
PWRPAEGQDA HECQRCDCNG HSETCHFDPA VFAASQGAYG GVCDNCRDHT 
       360        370        380        390        400
EGKNCERCQL HYFRNRRPGA SIQETCISCE CDPDGAVPGA PCDPVTGQCV 
       410        420        430        440        450
CKEHVQGERC DLCKPGFTGL TYANPQGCHR CDCNILGSRR DMPCDEESGR 
       460        470        480        490        500
CLCLPNVVGP KCDQCAPYHW KLASGQGCEP CACDPHNSLS PQCNQFTGQC 
       510        520        530        540        550
PCREGFGGLM CSAAAIRQCP DRTYGDVATG CRACDCDFRG TEGPGCDKAS 
       560        570        580        590        600
GRCLCRPGLT GPRCDQCQRG YCNRYPVCVA CHPCFQTYDA DLREQALRFG 
       610        620        630        640        650
RLRNATASLW SGPGLEDRGL ASRILDAKSK IEQIRAVLSS PAVTEQEVAQ 
       660        670        680        690        700
VASAILSLRR TLQGLQLDLP LEEETLSLPR DLESLDRSFN GLLTMYQRKR 
       710        720        730        740        750
EQFEKISSAD PSGAFRMLST AYEQSAQAAQ QVSDSSRLLD QLRDSRREAE 
       760        770        780        790        800
RLVRQAGGGG GTGSPKLVAL RLEMSSLPDL TPTFNKLCGN SRQMACTPIS 
       810        820        830        840        850
CPGELCPQDN GTACGSRCRG VLPRAGGAFL MAGQVAEQLR GFNAQLQRTR 
       860        870        880        890        900
QMIRAAEESA SQIQSSAQRL ETQVSASRSQ MEEDVRRTRL LIQQVRDFLT 
       910        920        930        940        950
DPDTDAATIQ EVSEAVLALW LPTDSATVLQ KMNEIQAIAA RLPNVDLVLS 
       960        970        980        990       1000
QTKQDIARAR RLQAEAEEAR SRAHAVEGQV EDVVGNLRQG TVALQEAQDT 
      1010       1020       1030       1040       1050
MQGTSRSLRL IQDRVAEVQQ VLRPAEKLVT SMTKQLGDFW TRMEELRHQA 
      1060       1070       1080       1090       1100
RQQGAEAVQA QQLAEGASEQ ALSAQEGFER IKQKYAELKD RLGQSSMLGE 
      1110       1120       1130       1140       1150
QGARIQSVKT EAEELFGETM EMMDRMKDME LELLRGSQAI MLRSADLTGL 
      1160       1170 
EKRVEQIRDH INGRVLYYAT CK
Length:1,172
Mass (Da):129,572
Last modified:November 1, 1996 - v1
Checksum:i61BC1A60BBD4FA05
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5THA1Q5THA1_HUMAN
Laminin subunit beta-3
LAMB3
188Annotation score:
X1WI29X1WI29_HUMAN
Laminin subunit beta-3
LAMB3
159Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti124Q → R in AAA61834 (PubMed:7512558).Curated1
Sequence conflicti269Missing in AAA61834 (PubMed:7512558).Curated1
Sequence conflicti388P → A in AAA61834 (PubMed:7512558).Curated1
Sequence conflicti426 – 427QG → RR in AAA61834 (PubMed:7512558).Curated2
Sequence conflicti440 – 441RD → E in AAA61834 (PubMed:7512558).Curated2
Sequence conflicti489 – 500LSPQC…FTGQC → PQPTVQPVHRAV in BAA22263 (PubMed:8530036).CuratedAdd BLAST12
Sequence conflicti603R → P in AAA61834 (PubMed:7512558).Curated1
Sequence conflicti815G → A in AAA61834 (PubMed:7512558).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037309181N → D. Corresponds to variant dbSNP:rs2235542EnsemblClinVar.1
Natural variantiVAR_037310199G → A in GABEB; somatic second-site mutation. 1 PublicationCorresponds to variant dbSNP:rs121912486EnsemblClinVar.1
Natural variantiVAR_037311207K → Q in GABEB; somatic second-site mutation. 1 PublicationCorresponds to variant dbSNP:rs121912487EnsemblClinVar.1
Natural variantiVAR_004170210E → K in GABEB. 2 PublicationsCorresponds to variant dbSNP:rs121912482EnsemblClinVar.1
Natural variantiVAR_037312292R → L. Corresponds to variant dbSNP:rs12091253Ensembl.1
Natural variantiVAR_034060438S → T. Corresponds to variant dbSNP:rs2229468EnsemblClinVar.1
Natural variantiVAR_035820450R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200895463Ensembl.1
Natural variantiVAR_037313527V → M. Corresponds to variant dbSNP:rs2076349EnsemblClinVar.1
Natural variantiVAR_004171679P → L in H-JEB. 1 PublicationCorresponds to variant dbSNP:rs201223111Ensembl.1
Natural variantiVAR_034061690N → S. Corresponds to variant dbSNP:rs2229466EnsemblClinVar.1
Natural variantiVAR_034062852M → L1 PublicationCorresponds to variant dbSNP:rs12748250EnsemblClinVar.1
Natural variantiVAR_037314926A → D. Corresponds to variant dbSNP:rs2076222EnsemblClinVar.1
Natural variantiVAR_034063988R → W. Corresponds to variant dbSNP:rs2229467Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L25541 mRNA Translation: AAA61834.1
U17760
, U17745, U17746, U17747, U17748, U17749, U17750, U17751, U17752, U17753, U17754, U17755, U17756, U17757, U17758, U17759 Genomic DNA Translation: AAC51352.1
D37766 mRNA Translation: BAA22263.1
AY035783 mRNA Translation: AAK61364.1
AL023754 Genomic DNA No translation available.
AL031316 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93448.1
CH471100 Genomic DNA Translation: EAW93449.1
BC075838 mRNA Translation: AAH75838.1
CCDSiCCDS1487.1
PIRiA53612
RefSeqiNP_000219.2, NM_000228.2
NP_001017402.1, NM_001017402.1
NP_001121113.1, NM_001127641.1
XP_005273181.1, XM_005273124.4
UniGeneiHs.497636

Genome annotation databases

EnsembliENST00000356082; ENSP00000348384; ENSG00000196878
ENST00000367030; ENSP00000355997; ENSG00000196878
ENST00000391911; ENSP00000375778; ENSG00000196878
GeneIDi3914
KEGGihsa:3914
UCSCiuc001hhg.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLAMB3_HUMAN
AccessioniPrimary (citable) accession number: Q13751
Secondary accession number(s): D3DT88
, O14947, Q14733, Q9UJK4, Q9UJL1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 183 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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