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Aliases & Descriptions for LAMB3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BM600-125KDA 2 BM600-125kDa 1 FLJ99565 2 LAM5 2 LAMNB1 2 , 3 OTTHUMP00000034555 2 OTTHUMP00000034640 2 kalinin-140kDa 1 , 2 nicein-125kDa 1 , 2
Descriptions Kalinin B1 chain 2 , 3 Laminin 5 beta 3 3 Laminin B1k chain 2 , 3 laminin S B3 chain 2 laminin, beta 3 2 laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD)) 1 , 2
Search outside databases for aliases for LAMB3 genePrevious GC identifers: GC01M208427 GC01M205494 GC01M206427 GC01M206867 GC01M206176
Summaries for LAMB3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for LAMB3 : The product encoded by this gene is a laminin that belongs to a family of basement membraneproteins. This protein is a beta subunit laminin, which together with an alpha and a gammasubunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitztype, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized byblistering of the skin. Multiple alternatively spliced transcript variants that encode the sameprotein have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 Function : Binding to cells via a high affinity receptor, laminin is thought to mediate theattachment, migration and organization of cells into tissues during embryonic development byinteracting with other extracellular matrix components
Gene Wiki entry for LAMB3 (Laminin%2C_beta_3)
Genomic Location for LAMB3
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the LAMB3 gene Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32 LAMB3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M207854:
(about GC identifiers )
Start:
207,854,838 bp from pter
End:
207,892,443 bp from pter
Size:
37,606 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_021877.18 Proteins for LAMB3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 (See
protein sequence )Recommended Name: Laminin subunit beta-3 precursor Size : 1172 amino acids; 129572 Da
Subunit : 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-shapedmolecule comprising one long and three short arms with globules at each end. Beta-3 is a subunitof laminin-5 (epiligrin/kalinin/nicein)
Subcellular location : Secreted, extracellular space, extracellular matrix, basement membrane
Secondary accessions : O14947 Q14733 Q9UJK4 Q9UJL1
REFSEQ proteins (3 alternative transcripts):
NP_000219.2 NP_001017402.1 NP_001121113.1 ENSEMBL proteins: ENSP00000348384 ENSP00000375778 ENSP00000355997 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA -- GO:0005604 basement membrane
IEA --
About this table Antibodies for LAMB3: Assays for LAMB3:
Protein
Domains/ Families for LAMB3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13751 ProtoNet protein and cluster: Q13751
1 Blocks protein family : IPB002049 Laminin-type EGF-like domain UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 Domain : The alpha-helical domains I and II are thought to interact with other laminin chains toform a coiled coil structure Domain : Domain VI is globularSimilarity : Contains 6 laminin EGF-like domainsSimilarity : Contains 1 laminin N-terminal domain
Gene Function for LAMB3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000228 Applied Biosystems Silencer ® siRNAs for LAMB3 Sigma-Aldrich siRNA and siRNA Panels for LAMB3 Sigma-Aldrich shRNA Panels and shRNA for LAMB3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000228                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000228                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000228  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000228 UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 Function : Binding to cells via a high affinity receptor, laminin is thought to mediate theattachment, migration and organization of cells into tissues during embryonic development byinteracting with other extracellular matrix components
Genatlas biochemistry entry for LAMB3 :laminin 5 (kalinin/nicein),beta 3 polypeptide,component of cutaneous basement membranezone,expressed in stratifying squamous epithelium
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Lamb3) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for LAMB3
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/119 Interacting proteins for LAMB3 (ENSP00000348384 3 Q13751 2 ) via UniProtKB, MINT, and/or STRING (see all 119
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for LAMB3 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for LAMB3 1 Novoseek chemical compound relationship for LAMB3 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin
85.73
2
7833047 (1), 7635220 (1)
About this table
Transcripts for LAMB3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000228 Sigma-Aldrich siRNA and siRNA Panels for LAMB3 Sigma-Aldrich shRNA Panels and shRNA for LAMB3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000228 NM_001017402 NM_001127641
REFSEQ mRNAs for LAMB3 gene (3 alternative transcripts): NM_000228.2 NM_001017402.1 NM_001127641.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000228 NM_001017402 NM_001127641
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000228                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000228                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000228  
Additional cDNA sequence: AK296851.1 AK309524.1 AY035783.1 BC058922.1 BC075838.1 D37766.1 L25541.1
13 DOTS entries : DT.95186987 DT.86858908 DT.121417740 DT.121417732 DT.99927221 DT.100755268 DT.100014491 DT.100755266 DT.100755267 DT.121417754 DT.92409688 DT.92443575 DT.95218181
24/248 AceView cDNA sequences (see all 248
):CA453966 AI696934 BQ918264 AW338452 BG681883 AI653969 BM769454 BQ951321 BM560717 AI692263 BM831118 BQ690508 CA488672 AI919062 BU538660 AY035783 BM047246 AL555685 AL555216 BM043640 AW079615 AI801158 AA659927 BM819029
highest scoring ESTs for LAMB3 :AA298962 AL555216 AL555685 BC058922 BI819478 BI820562 BM752299 BM753278 BM828925 D37766
Unigene Cluster for LAMB3: Laminin, beta 3 Hs.497636 [show with all ESTs ] Unigene Representative Sequence: NM_001017402 GeneLoc Exon Structure 5/17 Alternative Splicing Database (ASD) splice patterns (SP) for LAMB3 (see all 17
) ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ SP1 :       -             -                                   SP2 :                   -                                   SP3 :                   -                                   SP4 :                                                     SP5 :       -             -   -   -                              
ExUns: 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 SP1 :                                       SP2 :                                       SP3 :                                       SP4 :                                       SP5 :                                      
About this scheme ECgene alternative splicing isoforms for LAMB3 3 Ensembl transcripts including schematic representations : ENST00000356082
ENST00000391911
ENST00000367030
Expression for LAMB3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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LAMB3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for LAMB3 1 / 2 / 3
3 probe-sets matching LAMB3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCATTGAAACSOURCE GeneReport for Unigene cluster: Hs.497636 Expression variation in blood from EXPOLDB for LAMB3
UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751 Tissue specificity : Found in the basement membranes (major component)
Orthologs for LAMB3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for LAMB3 gene from 5 species
About this table Species with no ortholog for LAMB3 ENSEMBL Gene Tree for LAMB3 Paralogs for LAMB3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for LAMB3 gene NTN4 2 USH2A 2
SNPs/Variants for LAMB3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for LAMB3 (up to first 250kb)
Disorders & Mutations for LAMB3
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 150310 disorders : 226700 226650 UniProtKB/Swiss-Prot: LAMB3_HUMAN, Q13751
Defects in LAMB3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB)[MIM:226700]; also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines agroup of blistering skin diseases characterized by tissue separation which occurs within thedermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occursusually within the first six months of life. Occasionally, children survive to teens. H-JEB ismarked by bullous lesions at birth and extensive denudation of skin and mucous membranes that maybe hemorrhagic Defects in LAMB3 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB)[MIM:226650]. GABEB is a non-lethal, adult form of junctional epidermolysis bullosa characterizedby life-long blistering of the skin, associated with hair and tooth abnormalities
10 Novoseek disease relationships for LAMB3 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa junctional
98.49
46
9457915 (4), 10469327 (3), 8618058 (3), 11023379 (3) (see all 30 )
gabeb
93.27
6
10951252 (3), 9690563 (2), 9767254 (1)
lethal junctional epidermolysis bullosa
91.32
2
9579554 (1), 11296269 (1)
epidermolysis bullosa
87.42
2
7774918 (1), 7550237 (1)
skin diseases
61.36
6
8618058 (1), 9457915 (1), 9759651 (1), 8618020 (1) (see all 6 )
pemphigoid bullous
56.57
1
9487212 (1)
necrosis
0.00
1
7635220 (1)
cancer lung
0.00
2
10964684 (1)
cancer
0.00
3
18570662 (1), 14695139 (1)
tumors
0.00
6
7635220 (1), 14973053 (1), 15846078 (1), 14695139 (1) (see all 5 )
About this table GeneTests: LAMB3 Junctional Epidermolysis Bullosa Human Gene Mutation Database : LAMB3 Genetic Association Database: LAMB3 Human Genome Epidemiology Navigator: LAMB3 (1 document)
Medical News for LAMB3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for LAMB3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/113 PubMed articles for LAMB3 gene (see all 113
): Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (PubMed id 7774918) 1, 2, 3, 4 Pulkkinen L....Uitto J. (1995) Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). (PubMed id 7550237) 1, 3, 4 Pulkkinen L.... Uitto J. (1995) Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PubMed id 17476356) 1, 3, 4 Pasmooij A.M.G.... Jonkman M.F. (2007) E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. (PubMed id 9767254) 1, 3, 4 Mellerio J.E.... McGrath J.A. (1998) The complete primary structure for a novel laminin chain, the laminin B1k chain. (PubMed id 7512558) 1, 3, 4 Gerecke D.R.... Burgeson R.E. (1994) In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (PubMed id 11296269) 1, 3, 4 Robbins P.B.... Khavari P.A. (2001) Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PubMed id 15370542) 1, 3, 6 Hayashi M....Allikmets R. (2004) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 3, 4 Gregory S.G.... Bentley D.R. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Chromosomal loci of 50 human keratinocyte cDNAs assigned by fluorescence in situ hybridization. (PubMed id 8530036) 3, 4 Morishima Y....Inazawa J. (1995)
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Genome Databases showing LAMB3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing LAMB3
(According to HUGE )
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Specialized Databases showing LAMB3 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for LAMB3 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for LAMB3:
Search Tocris compounds for LAMB3
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009