LAMB1 Gene (Protein Coding)

Laminin Subunit Beta 1

GC07M107923
GIFtS:
48
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, ... See more...

Aliases for LAMB1 Gene

Aliases for LAMB1 Gene

  • Laminin Subunit Beta 1 2 3 5
  • Laminin Subunit Beta-1 3 4
  • 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
  • LAMB1 5
  • 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 Pierson Syndrome. Among its related pathways are Integrin Pathway and MET promotes cell motility. Gene Ontology (GO) annotations related to this gene include enzyme binding and integrin binding. An important paralog of this gene is LAMB2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for LAMB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMB1 Gene

Genomics for LAMB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LAMB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMB1

Top Transcription factor binding sites by QIAGEN in the LAMB1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Brachyury
  • c-Fos
  • c-Jun
  • FosB
  • Pbx1a

Genomic Locations for LAMB1 Gene

Latest Assembly
chr7:107,923,799-108,003,213
(GRCh38/hg38)
Size:
79,415 bases
Orientation:
Minus strand

Previous Assembly
chr7:107,564,244-107,643,606
(GRCh37/hg19 by Entrez Gene)
Size:
79,363 bases
Orientation:
Minus strand

chr7:107,564,244-107,643,700
(GRCh37/hg19 by Ensembl)
Size:
79,457 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 Structure • Gene Density

RefSeq DNA sequence for LAMB1 Gene

Proteins for LAMB1 Gene

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  3. Assay products for research

  • 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).

    Three dimensional structures from OCA and Proteopedia for LAMB1 Gene

neXtProt entry for LAMB1 Gene

Protein Expression for LAMB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Glycosylation from GlyConnect
    • LAMB1_HUMAN (1442)

Other Protein References for LAMB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMB1 Gene

Domains & Families for LAMB1 Gene

Gene Families for LAMB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LAMB1 Gene

InterPro:
Blocks:
  • Laminin-type EGF-like domain

Suggested Antigen Peptide Sequences for LAMB1 Gene

GenScript: Design optimal peptide antigens:
  • Laminin-8 subunit beta (LAMB1_HUMAN)
  • Laminin, beta 1 (LAMB1) (Q75MC8_HUMAN)
  • LAMB1 protein (Q8TAS6_HUMAN)

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.
genes like me logo Genes that share domains with LAMB1: view

Function for LAMB1 Gene

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  6. Cell Lines for research

Molecular function for LAMB1 Gene

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.
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

Phenotypes From GWAS Catalog for LAMB1 Gene

Gene Ontology (GO) - Molecular Function for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IBA 21873635
GO:0005198 structural molecule activity NAS 10842354
GO:0005201 extracellular matrix structural constituent IDA,RCA 25037231
GO:0005515 protein binding IPI 26438063
genes like me logo Genes that share ontologies with LAMB1: view
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMB1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMB1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA,TAS 3493487
GO:0005606 laminin-1 complex TAS 14557481
GO:0005607 laminin-2 complex TAS 15894315
GO:0005615 extracellular space IDA 10964500
genes like me logo Genes that share ontologies with LAMB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LAMB1 Gene

Pathways & Interactions for LAMB1 Gene

PathCards logo

SuperPathways for LAMB1 Gene

SuperPathway Contained pathways
1 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
2 MET promotes cell motility
MET promotes cell motility
.45
Signaling by MET
.45
Laminin interactions
.40
Non-integrin membrane-ECM interactions
.37
Alpha 6 Beta 4 signaling pathway
.32
MET activates PTK2 signaling
.01
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Focal Adhesion
Focal adhesion
.61
Focal Adhesion
.61
5 PI3K-Akt signaling pathway
Human papillomavirus infection
.30
PI3K-Akt signaling pathway
.30
genes like me logo Genes that share pathways with LAMB1: view

Pathways by source for LAMB1 Gene

6 GeneGo (Thomson Reuters) pathways for LAMB1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_Cell-matrix glycoconjugates
  • Cell adhesion_ECM remodeling
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cell adhesion_Plasmin signaling
14 Qiagen pathways for LAMB1 Gene
  • CDK5 Pathway
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for LAMB1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LAMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 14557481
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0009888 tissue development IBA 21873635
GO:0016477 cell migration IBA 21873635
GO:0021812 neuronal-glial interaction involved in cerebral cortex radial glia guided migration IMP 23472759
genes like me logo Genes that share ontologies with LAMB1: view

Drugs & Compounds for LAMB1 Gene

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(2) Drugs for LAMB1 Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lanoteplase Investigational Pharma Target 0
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

Drug products for research

Transcripts for LAMB1 Gene

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mRNA/cDNA for LAMB1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
37 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMB1

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

Expression for LAMB1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMB1 Gene

mRNA expression in normal human tissues for LAMB1 Gene
mRNA expression by BioGPS for LAMB1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for LAMB1 Gene



Protein tissue co-expression partners for LAMB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMB1

SOURCE GeneReport for Unigene cluster for LAMB1 Gene:

Hs.650585

Evidence on tissue expression from TISSUES for LAMB1 Gene

  • Intestine(4.6)
  • Liver(4.5)
  • Bone marrow(4.2)
  • Kidney(4.1)
  • Eye(3.8)
  • Nervous system(3.2)
  • Lung(3.1)
  • Muscle(2.9)
  • Heart(2.9)
  • Spleen(2.7)
  • Skin(2.6)
  • Pancreas(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMB1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • head
  • meninges
  • skull
genes like me logo Genes that share expression patterns with LAMB1: view

Primer products for research

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 29 30
  • 99.55 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LAMB1 29 30
  • 90.16 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LAMB1 30
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LAMB1 29 30
  • 87.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lamb1 29 16 30
  • 86.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lamb1 29
  • 86.38 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 49 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves LAMB1 29 30
  • 75.93 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LAMB1 30
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lamb1 29
  • 70.75 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lamb1a 29 30
  • 65.73 (n)
 OneToOne
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11110 29
Fruit Fly
(Drosophila melanogaster)
 Insecta LanB1 30 31
  • 41 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lam-1 30 31
  • 41 (a)
 OneToMany
Species where no ortholog for LAMB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LAMB1: view image
Alliance of Genome Resources:
Additional Orthologs for LAMB1

Paralogs for LAMB1 Gene

Paralogs for LAMB1 Gene

(7) SIMAP similar genes for LAMB1 Gene using alignment to 8 proteins:

  • LAMB1_HUMAN
  • C9J296_HUMAN
  • E7EPA6_HUMAN
  • E9PCS6_HUMAN
  • G3XAI2_HUMAN
  • L8E7Q3_HUMAN
  • Q75MC8_HUMAN
  • Q8TAS6_HUMAN

Pseudogenes.org Pseudogenes for LAMB1 Gene

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

Variants for LAMB1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMB1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1021519 Uncertain Significance: not provided 107,932,217(-) T/C
NM_002291.3(LAMB1):c.4349A>G (p.Asp1450Gly) 		MISSENSE
1029431 Pathogenic: Lissencephaly 5 107,975,689(-) G/A
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) 		NONSENSE
1029432 Uncertain Significance: Lissencephaly 5 107,961,223(-) A/T
NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) 		MISSENSE
1029433 Uncertain Significance: Lissencephaly 5 107,959,747(-) C/T
NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) 		MISSENSE
1029434 Uncertain Significance: Lissencephaly 5 107,935,415(-) C/G
NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3641n106 CNV deletion 24896259
esv2734996 CNV deletion 23290073
esv2734997 CNV deletion 23290073
nsv1135985 CNV deletion 24896259
nsv1150103 CNV deletion 26484159
nsv831088 CNV loss 17160897

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)

Additional Variant Information for LAMB1 Gene

Human Gene Mutation Database (HGMD)
LAMB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMB1
Leiden Open Variation Database (LOVD)
LAMB1

SNP Genotyping and Copy Number Assays for research

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

Disorders for LAMB1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for LAMB1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
lissencephaly 5
  • lis5
pierson syndrome
  • microcoria-congenital nephrotic syndrome
cutis laxa
  • loose skin
band heterotopia
  • bh
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for LAMB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 JG (American journal of human genetics 2013) 3 4 72
  2. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PMID: 20228799) McGovern DP … Seielstad M (Nature genetics 2010) 3 40
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 40
  5. Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (PMID: 19915572) UK IBD Genetics Consortium … Strachan DP (Nature genetics 2009) 3 40

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