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LAMB1 (laminin subunit beta 1)

Identity

Alias_namesCLM
cutis laxa with marfanoid phenotype
laminin, beta 1
Other aliasLIS5
HGNC (Hugo) LAMB1
LocusID (NCBI) 3912
Atlas_Id 41115
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 107923801 and ends at 108003359 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CABIN1 (22q11.23) / LAMB1 (7q31.1)FASN (17q25.3) / LAMB1 (7q31.1)LAMB1 (7q31.1) / ATXN7L1 (7q22.3)
LAMB1 (7q31.1) / CAPZA2 (7q31.2)LAMB1 (7q31.1) / CHMP5 (9p13.3)LAMB1 (7q31.1) / KPNA3 (13q14.2)
LAMB1 (7q31.1) / LAMB4 (7q31.1)LAMB1 (7q31.1) / PITPNC1 (17q24.2)LAMB1 (7q31.1) / PUS7 (7q22.3)
MALAT1 (11q13.1) / LAMB1 (7q31.1)PRKDC (8q11.21) / LAMB1 (7q31.1)SLC25A3 (12q23.1) / LAMB1 (7q31.1)
LAMB1 7q31.1 / ATXN7L1 7q22.3LAMB1 7q31.1 / PUS7 7q22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LAMB1   6486
Cards
Entrez_Gene (NCBI)LAMB1  3912  laminin subunit beta 1
AliasesCLM; LIS5
GeneCards (Weizmann)LAMB1
Ensembl hg19 (Hinxton)ENSG00000091136 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091136 [Gene_View]  chr7:107923801-108003359 [Contig_View]  LAMB1 [Vega]
ICGC DataPortalENSG00000091136
TCGA cBioPortalLAMB1
AceView (NCBI)LAMB1
Genatlas (Paris)LAMB1
WikiGenes3912
SOURCE (Princeton)LAMB1
Genetics Home Reference (NIH)LAMB1
Genomic and cartography
GoldenPath hg38 (UCSC)LAMB1  -     chr7:107923801-108003359 -  7q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LAMB1  -     7q31.1   [Description]    (hg19-Feb_2009)
EnsemblLAMB1 - 7q31.1 [CytoView hg19]  LAMB1 - 7q31.1 [CytoView hg38]
Mapping of homologs : NCBILAMB1 [Mapview hg19]  LAMB1 [Mapview hg38]
OMIM150240   615191   
Gene and transcription
Genbank (Entrez)AK303501 AK307611 AK309921 BC026018 BC044633
RefSeq transcript (Entrez)NM_002291
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LAMB1
Cluster EST : UnigeneHs.650585 [ NCBI ]
CGAP (NCI)Hs.650585
Alternative Splicing GalleryENSG00000091136
Gene ExpressionLAMB1 [ NCBI-GEO ]   LAMB1 [ EBI - ARRAY_EXPRESS ]   LAMB1 [ SEEK ]   LAMB1 [ MEM ]
Gene Expression Viewer (FireBrowse)LAMB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3912
GTEX Portal (Tissue expression)LAMB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07942   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07942  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07942
Splice isoforms : SwissVarP07942
PhosPhoSitePlusP07942
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_LAM_1 (PS01248)    EGF_LAM_2 (PS50027)    LAMININ_IVB (PS51116)    LAMININ_NTER (PS51117)   
Domains : Interpro (EBI)EGF-like_dom    Laminin_EGF    Laminin_IV_B    Laminin_N    Prefoldin   
Domain families : Pfam (Sanger)Laminin_EGF (PF00053)    Laminin_N (PF00055)   
Domain families : Pfam (NCBI)pfam00053    pfam00055   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_Lam (SM00180)  LamNT (SM00136)  
Conserved Domain (NCBI)LAMB1
DMDM Disease mutations3912
Blocks (Seattle)LAMB1
SuperfamilyP07942
Human Protein AtlasENSG00000091136
Peptide AtlasP07942
HPRD01029
IPIIPI00013976   IPI00852737   IPI00853454   IPI00852955   IPI00852899   
Protein Interaction databases
DIP (DOE-UCLA)P07942
IntAct (EBI)P07942
FunCoupENSG00000091136
BioGRIDLAMB1
STRING (EMBL)LAMB1
ZODIACLAMB1
Ontologies - Pathways
QuickGOP07942
Ontology : AmiGOstructural molecule activity  extracellular matrix structural constituent  extracellular region  basement membrane  basement membrane  laminin-1 complex  laminin-1 complex  laminin-1 complex  laminin-2 complex  laminin-2 complex  extracellular space  cell adhesion  neuronal-glial interaction involved in cerebral cortex radial glia guided migration  extracellular matrix organization  positive regulation of cell migration  extracellular matrix  extracellular matrix  neuron projection development  substrate adhesion-dependent cell spreading  endodermal cell differentiation  odontogenesis  laminin-8 complex  laminin-8 complex  laminin-10 complex  perinuclear region of cytoplasm  positive regulation of epithelial cell proliferation  extracellular exosome  
Ontology : EGO-EBIstructural molecule activity  extracellular matrix structural constituent  extracellular region  basement membrane  basement membrane  laminin-1 complex  laminin-1 complex  laminin-1 complex  laminin-2 complex  laminin-2 complex  extracellular space  cell adhesion  neuronal-glial interaction involved in cerebral cortex radial glia guided migration  extracellular matrix organization  positive regulation of cell migration  extracellular matrix  extracellular matrix  neuron projection development  substrate adhesion-dependent cell spreading  endodermal cell differentiation  odontogenesis  laminin-8 complex  laminin-8 complex  laminin-10 complex  perinuclear region of cytoplasm  positive regulation of epithelial cell proliferation  extracellular exosome  
Pathways : BIOCARTAPrion Pathway [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Toxoplasmosis    Amoebiasis    Pathways in cancer    Small cell lung cancer   
NDEx NetworkLAMB1
Atlas of Cancer Signalling NetworkLAMB1
Wikipedia pathwaysLAMB1
Orthology - Evolution
OrthoDB3912
GeneTree (enSembl)ENSG00000091136
Phylogenetic Trees/Animal Genes : TreeFamLAMB1
HOVERGENP07942
HOGENOMP07942
Homologs : HomoloGeneLAMB1
Homology/Alignments : Family Browser (UCSC)LAMB1
Gene fusions - Rearrangements
Fusion : MitelmanLAMB1/ATXN7L1 [7q31.1/7q22.3]  
Fusion : MitelmanLAMB1/CAPZA2 [7q31.1/7q31.2]  [inv(7)(q31q31)]  
Fusion : MitelmanLAMB1/PUS7 [7q31.1/7q22.3]  [t(7;7)(q22;q31)]  
Fusion: TCGALAMB1 7q31.1 ATXN7L1 7q22.3 HNSC
Fusion: TCGALAMB1 7q31.1 PUS7 7q22.3 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLAMB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LAMB1
dbVarLAMB1
ClinVarLAMB1
1000_GenomesLAMB1 
Exome Variant ServerLAMB1
ExAC (Exome Aggregation Consortium)LAMB1 (select the gene name)
Genetic variants : HAPMAP3912
Genomic Variants (DGV)LAMB1 [DGVbeta]
DECIPHERLAMB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLAMB1 
Mutations
ICGC Data PortalLAMB1 
TCGA Data PortalLAMB1 
Broad Tumor PortalLAMB1
OASIS PortalLAMB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLAMB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLAMB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LAMB1
DgiDB (Drug Gene Interaction Database)LAMB1
DoCM (Curated mutations)LAMB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LAMB1 (select a term)
intoGenLAMB1
Cancer3DLAMB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM150240    615191   
Orphanet22099   
MedgenLAMB1
Genetic Testing Registry LAMB1
NextProtP07942 [Medical]
TSGene3912
GENETestsLAMB1
Target ValidationLAMB1
Huge Navigator LAMB1 [HugePedia]
snp3D : Map Gene to Disease3912
BioCentury BCIQLAMB1
ClinGenLAMB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3912
Chemical/Pharm GKB GenePA30275
Clinical trialLAMB1
Miscellaneous
canSAR (ICR)LAMB1 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLAMB1
EVEXLAMB1
GoPubMedLAMB1
iHOPLAMB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:40:09 CEST 2017

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