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Aliases for LAMB1 Gene

Aliases for LAMB1 Gene

  • Laminin, Beta 1 2 3
  • Laminin B1 Chain 3 4
  • LIS5 3 6
  • Cutis Laxa With Marfanoid Phenotype 2
  • Laminin-10 Subunit Beta 4
  • Laminin-12 Subunit Beta 4
  • Laminin Subunit Beta-1 3
  • Laminin-1 Subunit Beta 4
  • Laminin-2 Subunit Beta 4
  • Laminin-6 Subunit Beta 4
  • Laminin-8 Subunit Beta 4
  • CLM 3

External Ids for LAMB1 Gene

Previous HGNC Symbols for LAMB1 Gene

  • CLM

Previous GeneCards Identifiers for LAMB1 Gene

  • GC07M106048
  • GC07M107110
  • GC07M107124
  • GC07M107158
  • GC07M107351
  • GC07M107564
  • GC07M101926

Summaries for LAMB1 Gene

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 cobblestone lissencephaly without muscular or ocular involvement. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include enzyme binding and integrin binding. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMB1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB1 Gene

Genomics for LAMB1 Gene

Regulatory Elements for LAMB1 Gene

Genomic Location for LAMB1 Gene

Start:
107,923,799 bp from pter
End:
108,003,359 bp from pter
Size:
79,561 bases
Orientation:
Minus strand

Genomic View for LAMB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMB1 Gene

Proteins for LAMB1 Gene

  • Protein details for LAMB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07942-LAMB1_HUMAN
    Recommended name:
    Laminin subunit beta-1
    Protein Accession:
    P07942
    Secondary Accessions:
    • Q14D91

    Protein attributes for LAMB1 Gene

    Size:
    1786 amino acids
    Molecular mass:
    198038 Da
    Quaternary structure:
    • 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)

neXtProt entry for LAMB1 Gene

Proteomics data for LAMB1 Gene at MOPED

Post-translational modifications for LAMB1 Gene

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

Other Protein References for LAMB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMB1 Gene

Domains for LAMB1 Gene

Gene Families for LAMB1 Gene

HGNC:
  • LAM :Laminins

Protein Domains for LAMB1 Gene

Suggested Antigen Peptide Sequences for LAMB1 Gene

Graphical View of Domain Structure for InterPro Entry

P07942

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
  • Domains VI and IV are globular
  • Contains 13 laminin EGF-like domains.
  • Contains 1 laminin IV type B domain.
  • Contains 1 laminin N-terminal domain.
genes like me logo Genes that share domains with LAMB1: view

Function for LAMB1 Gene

Molecular function for LAMB1 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005198 structural molecule activity NAS 10842354
GO:0005201 extracellular matrix structural constituent IDA 16289578
GO:0005515 protein binding --
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with LAMB1: view

Phenotypes for LAMB1 Gene

genes like me logo Genes that share phenotypes with LAMB1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for LAMB1 Gene

Localization for LAMB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMB1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMB1 Gene COMPARTMENTS Subcellular localization image for LAMB1 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane TAS 3493487
GO:0005605 basal lamina --
GO:0005606 laminin-1 complex TAS 14557481
genes like me logo Genes that share ontologies with LAMB1: view

Pathways for LAMB1 Gene

genes like me logo Genes that share pathways with LAMB1: view

Gene Ontology (GO) - Biological Process for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 14557481
GO:0007162 negative regulation of cell adhesion IEA --
GO:0007411 axon guidance TAS --
GO:0007566 embryo implantation IEA --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with LAMB1: view

Compounds for LAMB1 Gene

(5) Novoseek inferred chemical compound relationships for LAMB1 Gene

Compound -log(P) Hits PubMed IDs
ikvav 72.3 1
yigsr 72.1 3
retinoic acid 46.7 13
heparan sulfate 19.8 1
glucose 0 1
genes like me logo Genes that share compounds with LAMB1: view

Transcripts for LAMB1 Gene

Unigene Clusters for LAMB1 Gene

Laminin, beta 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB1 Gene

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: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13: -
SP14:
SP15:
SP16:

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:
SP6: -
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for LAMB1 Gene

GeneLoc Exon Structure for
LAMB1
ECgene alternative splicing isoforms for
LAMB1

Expression for LAMB1 Gene

mRNA expression in normal human tissues for LAMB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMB1 Gene

SOURCE GeneReport for Unigene cluster for LAMB1 Gene Hs.650585

genes like me logo Genes that share expressions with LAMB1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LAMB1 Gene

Orthologs for LAMB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMB1 35
  • 99.55 (n)
  • 99.66 (a)
LAMB1 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMB1 35
  • 90.16 (n)
  • 93.84 (a)
LAMB1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMB1 35
  • 87.96 (n)
  • 92.16 (a)
LAMB1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamb1 35
  • 86.66 (n)
  • 92.78 (a)
Lamb1 16
Lamb1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMB1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Lamb1 35
  • 86.38 (n)
  • 92.61 (a)
chicken
(Gallus gallus)
Aves LAMB1 35
  • 75.93 (n)
  • 80.66 (a)
LAMB1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMB1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamb1 35
  • 70.75 (n)
  • 72.38 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11110 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
lamb1a 35
  • 65.73 (n)
  • 67.38 (a)
lamb1a 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LanB1 36
  • 41 (a)
OneToMany
LanB1 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea lam-1 36
  • 41 (a)
OneToMany
lam-1 37
  • 40 (a)
Species with no ortholog for LAMB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMB1 Gene

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

Paralogs for LAMB1 Gene

Paralogs for LAMB1 Gene

Selected SIMAP similar genes for LAMB1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for LAMB1 Gene

genes like me logo Genes that share paralogs with LAMB1: view

Variants for LAMB1 Gene

Sequence variations from dbSNP and Humsavar for LAMB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs7561 -- 107,923,921(-) GGTGA(A/C/G)CAAGG utr-variant-3-prime
rs13646 -- 107,924,693(+) AGAAG(C/T)GCAGA intron-variant
rs20555 - 107,961,306(-) GCCGG(C/T)GTGCT missense, reference
rs20556 - 107,953,544(-) CCTCC(A/G)GCAGG reference, missense
rs25659 -- 107,986,325(-) TCGTC(C/T)GACTT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for LAMB1 Gene

Variant ID Type Subtype PubMed ID
nsv831088 CNV Loss 17160897
esv2734996 CNV Deletion 23290073
esv2734997 CNV Deletion 23290073

Relevant External Links for LAMB1 Gene

HapMap Linkage Disequilibrium report
LAMB1
Human Gene Mutation Database (HGMD)
LAMB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMB1 Gene

Disorders for LAMB1 Gene

(1) OMIM Diseases for LAMB1 Gene (150240)

UniProtKB/Swiss-Prot

LAMB1_HUMAN
  • 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. {ECO:0000269 PubMed:23472759}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for LAMB1 Gene

Disease -log(P) Hits PubMed IDs
teratocarcinoma 73.5 1
muscular dystrophies 56.4 2
carcinoma embryonal 55.8 1
leiomyoma 21.2 1
lung carcinoma 16 2

Relevant External Links for LAMB1

Genetic Association Database (GAD)
LAMB1
Human Genome Epidemiology (HuGE) Navigator
LAMB1
genes like me logo Genes that share disorders with LAMB1: view

Publications for LAMB1 Gene

  1. Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1? (PMID: 9196901) Taylor J. … Sewry C. (Neuromuscul. Disord. 1997) 3 23
  2. Adult human colonic subepithelial myofibroblasts express extracellular matrix proteins and cyclooxygenase-1 and -2. (PMID: 9435560) Mahida Y.R. … Hawkey C.J. (Am. J. Physiol. 1997) 3 23
  3. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. (PMID: 10407855) Merlini L. … Maraldi N.M. (Neuromuscul. Disord. 1999) 3 23
  4. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy. (PMID: 9309712) Sewry C.A. … Muntoni F. (Neuropediatrics 1997) 3 23
  5. Abnormal expression of glomerular basement membrane laminins in membranous glomerulonephritis. (PMID: 11096140) Fischer E. … Rossert J. (Nephrol. Dial. Transplant. 2000) 3 23

Products for LAMB1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Embryonic Stem Cells in human,mouse,rat
    • Extracellular Matrix & Adhesion Molecules in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate LAMB1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for LAMB1
    • Block miRNA regulation of LAMB1 using miScript Target Protectors

    Sources for LAMB1 Gene

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