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LAMB1 Gene

protein-coding   GIFtS: 69
GCID: GC07M107564

Laminin, Beta 1

(Previous name: cutis laxa with marfanoid phenotype)
(Previous symbol: CLM)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Laminin, Beta 11 2     Laminin-1 Subunit Beta3
CLM1 2     Laminin-10 Subunit Beta3
Laminin B1 Chain2 3     Laminin-12 Subunit Beta3
LIS52 5     Laminin-2 Subunit Beta3
Cutis Laxa With Marfanoid Phenotype1     Laminin-6 Subunit Beta3
Laminin Subunit Beta-12     Laminin-8 Subunit Beta3

External Ids:    HGNC: 64861   Entrez Gene: 39122   Ensembl: ENSG000000911367   OMIM: 1502405   UniProtKB: P079423   

Export aliases for LAMB1 gene to outside databases

Previous GC identifers: GC07M106048 GC07M107110 GC07M107124 GC07M107158 GC07M107351 GC07M101926


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LAMB1 Gene:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement
membranes. They have been implicated in a wide variety of biological processes including cell adhesion,
differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical
chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure
consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each
laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been
described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin
isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1
heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely
unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably
reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain
has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region
containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats,
and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce
basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from
Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment,
chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit
metastasis. (provided by RefSeq, Aug 2011)

GeneCards Summary for LAMB1 Gene:
LAMB1 (laminin, beta 1) is a protein-coding gene. Diseases associated with LAMB1 include lissencephaly 5, and supravalvular aortic stenosis. GO annotations related to this gene include integrin binding and enzyme binding. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMB1_HUMAN, P07942
Function: 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. Involved in the organization of the laminar architecture of cerebral cortex. It is probably
required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet
of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in
cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a
scaffold for neurons migrating toward the pial surface

Gene Wiki entry for LAMB1 (Laminin, beta 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMB1 gene promoter:
         c-Fos   AP-1   Pbx1a   Brachyury   FosB   AP-2gamma   AP-2beta   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): LAMB1 promoter sequence
   Search Chromatin IP Primers for LAMB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q22

LAMB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M107564:  view genomic region     (about GC identifiers)

Start:
107,564,244 bp from pter      End:
107,643,804 bp from pter
Size:
79,561 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 106,925,375-107,004,933     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMB1_HUMAN, P07942 (See protein sequence)
Recommended Name: Laminin subunit beta-1 precursor  
Size: 1786 amino acids; 198038 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-shaped molecule comprising one long and three short
arms with globules at each end. Beta-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2
(laminin-211 or merosin), laminin-6 (laminin-311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin-511)
and laminin-12 (laminin-213)
Secondary accessions: Q14D91

Explore the universe of human proteins at neXtProt for LAMB1: NX_P07942

Explore proteomics data for LAMB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn120, Asn356, Asn519, Asn677, Asn1041, Asn1195, Asn1279, Asn1336, Asn1343, Thr1435,
                                 Asn1487, Asn1542, Asn1643
  • Modification sites at PhosphoSitePlus

  • See LAMB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002282.2  
    ENSEMBL proteins: 
     ENSP00000377191   ENSP00000222399   ENSP00000377190   ENSP00000412686   ENSP00000377189  
    Reactome Protein details: P07942

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LAM: Laminins

    4 InterPro protein domains:
     IPR009053 Prefoldin
     IPR013015 Laminin_IV
     IPR008211 Laminin_N
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry P07942

    ProtoNet protein and cluster: P07942

    1 Blocks protein domain: IPB002049 Laminin-type EGF-like domain

    UniProtKB/Swiss-Prot: LAMB1_HUMAN, P07942
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domains VI and IV are globular
    Similarity: Contains 13 laminin EGF-like domains
    Similarity: Contains 1 laminin IV type B domain
    Similarity: Contains 1 laminin N-terminal domain


    LAMB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMB1_HUMAN, P07942
    Function: 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. Involved in the organization of the laminar architecture of cerebral cortex. It is probably
    required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet
    of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in
    cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a
    scaffold for neurons migrating toward the pial surface

         Genatlas biochemistry entry for LAMB1:
    laminin,beta 1 polypeptide,component of basement membrane zone,expressed during early development in
    glomerular,perineural,arterial smooth muscle,paralog to LAMB2,heterotrimerizing (laminin 12) with laminin alpha 2
    and beta 1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005198structural molecule activity NAS10842354
    GO:0005201extracellular matrix structural constituent IDA16289578
    GO:0005515protein binding ----
    GO:0019899enzyme binding IEA--
         
    LAMB1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for LAMB1:
     Increased gamma-H2AX phosphory  Wnt reporter upregulated 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lamb1):
     embryogenesis  mortality/aging 

    LAMB1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMB1
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    Block miRNA regulation of human, mouse, rat LAMB1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate LAMB1
    SwitchGear 3'UTR luciferase reporter plasmidLAMB1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: LAMB1 (NM_002291)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAMB1_HUMAN, P07942: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol3
    nucleus3
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane TAS3493487
    GO:0005605basal lamina ----
    GO:0005606laminin-1 complex TAS14557481

    LAMB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LAMB1 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMB1 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    Selected GeneGo (Thomson Reuters) Pathways for LAMB1 (see all 6)
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion ECM remodeling

    3 BioSystems Pathways for LAMB1
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Inflammatory Response Pathway


    5 Reactome Pathways for LAMB1
        L1CAM interactions
    ECM proteoglycans
    Laminin interactions
    Degradation of the extracellular matrix
    Non-integrin membrane-ECM interactions


    Selected Kegg Pathways  (Kegg details for LAMB1) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LAMB1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LAMB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LAMB1 (P079422, 3 ENSP000002223994) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7L2Q5T6C52, 3, ENSP000003588864MINT-2860416 I2D: score=3 STRING: ENSP00000358886
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2860435 I2D: score=3 STRING: ENSP00000344782
    PDIA3P301012, 3MINT-4301394 I2D: score=1 
    LAMA5O152303, ENSP000002529994I2D: score=2 STRING: ENSP00000252999
    CACNA1AO005553, ENSP000003533624I2D: score=1 STRING: ENSP00000353362
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS14557481
    GO:0007162negative regulation of cell adhesion IEA--
    GO:0007411axon guidance TAS--
    GO:0007566embryo implantation IEA--
    GO:0016192vesicle-mediated transport ----

    LAMB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAMB1

    5 Novoseek inferred chemical compound relationships for LAMB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ikvav 72.3 2 8688602 (1)
    yigsr 72.1 3 7534913 (1), 8069868 (1), 8688602 (1)
    retinoic acid 46.7 23 9419418 (3), 2163993 (2), 1692330 (1), 1847931 (1) (see all 10)
    heparan sulfate 19.8 1 10772861 (1)
    glucose 0 1 2015965 (1)



    LAMB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LAMB1 gene: 
    NM_002291.2  

    Unigene Cluster for LAMB1:

    Laminin, beta 1
    Hs.650585  [show with all ESTs]
    Unigene Representative Sequence: NM_002291
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472714 ENST00000393561(uc003vev.2) ENST00000222399(uc003vew.2 uc010ljn.1)
    ENST00000474380 ENST00000468518 ENST00000491196 ENST00000470995 ENST00000468999
    ENST00000476039 ENST00000479448 ENST00000393560(uc003vex.3) ENST00000439976
    ENST00000393559
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    Additional mRNA sequence: 

    AK303501.1 AK307611.1 AK309921.1 BC026018.2 BC044633.1 BC052598.1 BC113455.1 BX648251.1 
    M20206.1 M61916.1 

    Selected DOTS entries (see all 27):

    DT.116492  DT.100826066  DT.100802139  DT.101977309  DT.434354  DT.121107815  DT.75100426  DT.100826064 
    DT.65288674  DT.40269438  DT.100826068  DT.95271406  DT.121107830  DT.121107880  DT.453345  DT.75192510 
    DT.92028197  DT.100714239  DT.95236215  DT.100045042  DT.102835860  DT.121107847  DT.306948  DT.75134510 

    Selected AceView cDNA sequences (see all 401):

    BI494528 AI948662 CR622254 BX491906 AL699295 NM_002291 CA443283 AU130889 
    AL543775 AI632719 H89256 BI060036 BX479270 M61916 BU165413 BC026018 
    AL701539 BG400644 CA391954 AW470565 CA437281 AA341427 T28659 BM988898 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMB1 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^
    SP1:                          -     -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                  -     -     -                                             
    SP4:                                                                                                                                                            
    SP5:                                -                                                                                                                           

    ExUns: 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b · 30c ^
    SP1:                                                                                      -     -     -                                   -     -     -         
    SP2:                                                                                      -     -     -                                   -     -     -         
    SP3:                                                                                                                                                            
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for LAMB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LAMB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGTAACAG
    LAMB1 Expression
    About this image


    LAMB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Hypoblast (Extraembryonic Tissues)
             Extraembryonic endoderm-like cells
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Mature Endothelial Cells Blood Brain Barrier
             Human umbilical vein endothelial cells (HUVEC)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Endothelial Cells Blood Brain Barrier
             Cerebellum
    LAMB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.650585
        Pathway & Disease-focused RT2 Profiler PCR Arrays including LAMB1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LAMB1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LAMB1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamb11 , 5 laminin B11, 5 86.66(n)1
    92.78(a)1
      12 (13.39 cM)5
    167771  NM_008482.21  NP_032508.21 
     312652345 
    chicken
    (Gallus gallus)
    Aves LAMB11 laminin, beta 1 75.93(n)
    80.66(a)
      396478  XM_415943.4  XP_415943.3 
    lizard
    (Anolis carolinensis)
    Reptilia LAMB16
    laminin, beta 1
    79(a)
    1 ↔ 1
    5(97795495-97896985)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX853547.12   -- 75.99(n)    BX853547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF468049.12   -- 74.13(n)   286830  AF468049.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB13 embryonic morphogenesis 40(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea lam-13 laminin 40(a)   IV(5173526-5183412)   --


    ENSEMBL Gene Tree for LAMB1 (if available)
    TreeFam Gene Tree for LAMB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMB1 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMC32  LAMA42  LAMA32  LAMA22  
    USH2A2  LAMB42  LAMB22  
    7 SIMAP similar genes for LAMB1 using alignment to 8 protein entries:     LAMB1_HUMAN (see all proteins):
    LAMB2    unknown    LAMB4    LAMB3    NTN4    LAMA4
    NTN1

    LAMB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LAMB1
    PGOHUM00000237622


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LAMB1 (see all 2062)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406195201,2
    Cuntested1110959027(+) CCTACG/ATTTGC 2 /P /S mis11Minor allele frequency- A:0.00NA 4550
    rs2006949421,2
    C--101928803(-) ACAGGC/TTTTTT 1 -- int10--------
    rs346311451,2
    C--106927472(+) AAAAAAA/-GCCTG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1135366371,2
    C--106936917(+) TCTTTG/TTTTTT 1 -- int12Minor allele frequency- T:0.00CSA EU 317
    rs340596741,2
    C,F--106938391(+) GAGGG-/AAAAAA 1 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs113004431,2
    C--106943415(+) TTTTT-/T/TT/TTTTTT
    TT
    /TTTTTTTTTT
    TTTTT
    1 -- int1 trp31NA 2
    rs356941241,2
    C--106943570(+) AAAAC-/TTTTTTT 1 -- int12Minor allele frequency- TT:0.25NA CSA 4
    rs2010345161,2
    C--106943570(+) AAAAC-/TTTTTTT 1 -- int10--------
    rs593695241,2
    C--107563887(+) AGTAC-/AT    
       C
    /CAT
    ATCCT
    2 -- cds10--------
    rs790731191,2
    C--107564537(+) TCTGT-/GGGGAGA 1 -- int13Minor allele frequency- GG:0.10CSA 10

    HapMap Linkage Disequilibrium report for LAMB1 (107564244 - 107643804 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LAMB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734997CNV Deletion23290073
    esv2734996CNV Deletion23290073
    nsv831088CNV Loss17160897

    Human Gene Mutation Database (HGMD): LAMB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMB1
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 150240   
    OMIM disorders: 615191  
    UniProtKB/Swiss-Prot: LAMB1_HUMAN, P07942
  • Lissencephaly 5 (LIS5) [MIM:615191]: An autosomal recessive brain malformation characterized by
    cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia.
    Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for LAMB1 (see all 52):    
    About MalaCards
    lissencephaly 5    supravalvular aortic stenosis    diffuse mesangial sclerosis    secretory meningioma
    teratocarcinoma    bethlem myopathy    cutis laxa    congenital heart block
    membranous glomerulonephritis    junctional epidermolysis bullosa    alport syndrome    nephrosis
    cocaine abuse    leiomyomatosis    breast adenocarcinoma    congenital muscular dystrophy
    epidermolysis bullosa    leiomyoma    limb-girdle muscular dystrophy    chronic graft versus host disease


    LAMB1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for LAMB1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    teratocarcinoma 73.5 2 9419418 (1)
    muscular dystrophies 56.4 2 9400354 (2)
    carcinoma embryonal 55.8 1 2163993 (1)
    leiomyoma 21.2 1 10730274 (1)
    lung carcinoma 16 2 8494054 (2)
    myopathy 11.4 1 9196901 (1)
    carcinoma 11.1 3 8494054 (2), 7967523 (1)
    lupus erythematosus systemic 0 1 9650095 (1)
    glioma 0 1 9055641 (1)
    adenocarcinoma 0 1 8494054 (1)

    Genetic Association Database (GAD): LAMB1
    Human Genome Epidemiology (HuGE) Navigator: LAMB1 (4 documents)

    Export disorders for LAMB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LAMB1 gene, integrated from 10 sources (see all 166):
    (articles sorted by number of sources associating them with LAMB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. (PubMed id 23472759)1, 2 Radmanesh F....Gleeson J.G. (Am. J. Hum. Genet. 2013)
    2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    3. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Seielstad M. (Nat. Genet. 2010)
    4. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PubMed id 19122664)1, 4 Silverberg M.S....Duerr R.H. (Nat. Genet. 2009)
    5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    6. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    7. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (PubMed id 19915572)1, 4  ....Strachan D.P. (Nat. Genet. 2009)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    9. Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. (PubMed id 1864606)1, 3 Bonneau D....LarrA"gue M. (Hum. Genet. 1991)
    10. Structure of the human laminin B1 chain gene. (PubMed id 1975589)1, 2 Vuolteenaho R.... Tryggvason K. (J. Biol. Chem. 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3912 HGNC: 6486 AceView: LAMB1 Ensembl:ENSG00000091136 euGenes: HUgn3912
    ECgene: LAMB1 Kegg: 3912 H-InvDB: LAMB1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LAMB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LAMB1 gene:
    Search GeneIP for patents involving LAMB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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