Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LAMB1 Gene

Aliases for LAMB1 Gene

  • Laminin Subunit Beta 1 2 3 5
  • Laminin B1 Chain 3 4
  • Laminin, Beta 1 2 3
  • Cutis Laxa With Marfanoid Phenotype 2
  • Laminin-10 Subunit Beta 4
  • Laminin-12 Subunit Beta 4
  • Laminin-1 Subunit Beta 4
  • Laminin-2 Subunit Beta 4
  • Laminin-6 Subunit Beta 4
  • Laminin-8 Subunit Beta 4
  • LIS5 3
  • 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 Subunit 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 Degradation of the extracellular matrix and Developmental Biology. 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

Promoters for LAMB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMB1 Gene

Chromosome:
7
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

Genes around LAMB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 120, Asn 356, Asn 519, Asn 677, Asn 1041, Asn 1195, Asn 1279, Asn 1336, Asn 1343, Thr 1435, Asn 1487, Asn 1542, and Asn 1643
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMB1 Gene

Antibody Products

No data available for DME Specific Peptides for LAMB1 Gene

Domains & Families for LAMB1 Gene

Gene Families for LAMB1 Gene

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 :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
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.

Phenotypes for LAMB1 Gene

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

Human Phenotype Ontology for LAMB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane TAS 3493487
GO:0005606 laminin-1 complex TAS 14557481
GO:0043257 laminin-8 complex TAS 15894315
GO:0048471 perinuclear region of cytoplasm ISS --
genes like me logo Genes that share ontologies with LAMB1: view

Pathways & Interactions for LAMB1 Gene

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

SIGNOR curated interactions for LAMB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0031175 neuron projection development IDA 15894315
GO:0034446 substrate adhesion-dependent cell spreading IDA 16236823
GO:0035987 endodermal cell differentiation IEP 23154389
genes like me logo Genes that share ontologies with LAMB1: view

Drugs & Compounds for LAMB1 Gene

(1) Drugs for LAMB1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Laminin (925-933) Pharma Extracellular matrix glycoprotein 0

(5) Additional Compounds for LAMB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LAMB1 Gene

Compound Action Cas Number
Laminin (925-933) Extracellular matrix glycoprotein 110590-60-8
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

Protein differential expression in normal tissues from HIPED for LAMB1 Gene

This gene is overexpressed in Amniocyte (6.4), Heart (6.3), Serum (6.0), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with LAMB1: view

Protein tissue co-expression partners for LAMB1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia LAMB1 35
  • 99.55 (n)
  • 99.66 (a)
LAMB1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamb1 35
  • 86.38 (n)
  • 92.61 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMB1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
ManyToMany
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)
zebrafish
(Danio rerio)
Actinopterygii -- 35
lamb1a 35
  • 65.73 (n)
  • 67.38 (a)
lamb1a 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11110 35
fruit fly
(Drosophila melanogaster)
Insecta LanB1 37
  • 40 (a)
LanB1 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-1 37
  • 40 (a)
lam-1 36
  • 41 (a)
OneToMany
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

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
rs20555 - 107,961,306(-) GCCGG(C/T)GTGCT reference, missense
rs20556 - 107,953,544(-) CCTCC(A/G)GCAGG reference, missense
rs35710474 - 107,959,361(+) AAAGC(C/G/T)CCAGT reference, missense
rs28750165 - 107,975,743(+) AAACG(A/G)CTTGC reference, missense
rs7561 -- 107,923,921(-) GGTGA(A/C/G)CAAGG utr-variant-3-prime

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

Variation tolerance for LAMB1 Gene

Residual Variation Intolerance Score: 6.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.87; 87.02% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for LAMB1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 5
  • lis5
cobblestone lissencephaly without muscular or ocular involvement
  • cobblestone lissencephaly without muscular or eye involvement
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
pierson syndrome
  • microcoria - congenital nephrosis
congenital heart block
  • heart block congenital
- elite association - COSMIC cancer census association via MalaCards
Search LAMB1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for LAMB1

Genetic Association Database (GAD)
LAMB1
Human Genome Epidemiology (HuGE) Navigator
LAMB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMB1
genes like me logo Genes that share disorders with LAMB1: view

No data available for Genatlas for LAMB1 Gene

Publications for LAMB1 Gene

  1. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. (PMID: 23472759) Radmanesh F. … Gleeson J.G. (Am. J. Hum. Genet. 2013) 3 4 67
  2. Ethanol increases fetal human neurosphere size and alters adhesion molecule gene expression. (PMID: 18162078) Vangipuram S.D. … Lyman W.D. (Alcohol. Clin. Exp. Res. 2008) 3 23
  3. Genes associated with the genesis of leiomyoma of the uterus in a commonly deleted chromosomal region at 7q22. (PMID: 15706419) Saito E. … Tanaka T. (Oncol. Rep. 2005) 3 23
  4. Abnormal expression of glomerular basement membrane laminins in membranous glomerulonephritis. (PMID: 11096140) Fischer E. … Rossert J. (Nephrol. Dial. Transplant. 2000) 3 23
  5. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. (PMID: 10407855) Merlini L. … Maraldi N.M. (Neuromuscul. Disord. 1999) 3 23

Products for LAMB1 Gene

Sources for LAMB1 Gene

Back to Top

Content