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LAMA3 Gene(Protein Coding)

Laminin Subunit Alpha 3

GCID:
GC18P023689
GIFtS:
66
Genes Participants
UDN Logo

Aliases for LAMA3 Gene

Aliases for LAMA3 Gene

  • Laminin Subunit Alpha 3 2 3 5
  • Laminin, Alpha 3 (Nicein (150kD), Kalinin (165kD), BM600 (150kD), Epilegrin) 2 3
  • Laminin-5 Subunit Alpha 3 4
  • Laminin-6 Subunit Alpha 3 4
  • Laminin-7 Subunit Alpha 3 4
  • Kalinin Subunit Alpha 3 4
  • Nicein Subunit Alpha 3 4
  • LAMNA 3 4
  • E170 3 4
  • Laminin 5, Alpha-3 Subunit 3
  • Epiligrin 170 Kda Subunit 3
  • Epiligrin Alpha 3 Subunit 3
  • Epiligrin 170 KDa Subunit 4
  • Laminin-5 Alpha 3 Chain 3
  • Epiligrin Subunit Alpha 4
  • LAM3, Alpha-3 Subunit 3
  • Kalinin 165kD Subunit 3
  • Nicein 150kD Subunit 3
  • BM600 150kD Subunit 3
  • Laminin, Alpha 3 2
  • Laminin A3 3
  • BM600 3
  • LOCS 3

External Ids for LAMA3 Gene

Previous HGNC Symbols for LAMA3 Gene

  • LAMNA

Previous GeneCards Identifiers for LAMA3 Gene

  • GC18P021345
  • GC18P021184
  • GC18P019521
  • GC18P019523
  • GC18P021269
  • GC18P018125

Summaries for LAMA3 Gene

Entrez Gene Summary for LAMA3 Gene

  • The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for LAMA3 Gene

LAMA3 (Laminin Subunit Alpha 3) is a Protein Coding gene. Diseases associated with LAMA3 include Laryngoonychocutaneous Syndrome and Epidermolysis Bullosa, Junctional, Herlitz Type. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and signal transducer activity. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMA3 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.

  • Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.

Gene Wiki entry for LAMA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA3 Gene

Genomics for LAMA3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for LAMA3 Gene

Enhancers for LAMA3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LAMA3 on UCSC Golden Path with GeneCards custom track

Promoters for LAMA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMA3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the LAMA3 gene promoter:

Genomic Location for LAMA3 Gene

Chromosome:
18
Start:
23,689,443 bp from pter
End:
23,955,066 bp from pter
Size:
265,624 bases
Orientation:
Plus strand

Genomic View for LAMA3 Gene

Genes around LAMA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMA3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LAMA3 Gene

Proteins for LAMA3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for LAMA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16787-LAMA3_HUMAN
    Recommended name:
    Laminin subunit alpha-3
    Protein Accession:
    Q16787
    Secondary Accessions:
    • B0YJ33
    • Q13679
    • Q13680
    • Q6VU67
    • Q6VU68
    • Q6VU69
    • Q76E14
    • Q96TG0

    Protein attributes for LAMA3 Gene

    Size:
    3333 amino acids
    Molecular mass:
    366649 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. Alpha-3 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein), laminin-6 (laminin-311 or K-laminin) and laminin-7 (laminin-321 or KS-laminin).

    Alternative splice isoforms for LAMA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMA3 Gene

Proteomics data for LAMA3 Gene at MOPED

Protein Expression for LAMA3 Gene

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

Post-translational modifications for LAMA3 Gene

  • Glycosylation at Asn 756, Asn 893, Asn 975, Asn 1142, Ser 1366, Asn 1488, Asn 142, and Asn 242
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for LAMA3 (Laminin alpha 3/Laminin-5)

No data available for DME Specific Peptides for LAMA3 Gene

Domains & Families for LAMA3 Gene

Gene Families for LAMA3 Gene

HGNC:

Protein Domains for LAMA3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16787

UniProtKB/Swiss-Prot:

LAMA3_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.
  • Domain G is globular.
  • Contains 15 laminin EGF-like domains.
  • Contains 5 laminin G-like domains.
  • Contains 1 laminin IV type A domain.
  • Contains 1 laminin N-terminal domain.
genes like me logo Genes that share domains with LAMA3: view

Function for LAMA3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for LAMA3 Gene

GENATLAS Biochemistry:
laminin,alpha 3 polypeptide,heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5 (kalinin/nicein),component of cutaneous basement membrane zone
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.
UniProtKB/Swiss-Prot Function:
Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes.
UniProtKB/Swiss-Prot Induction:
Laminin-5 is up-regulated in wound sites of human skin.

Phenotypes for LAMA3 Gene

MGI mutant phenotypes for LAMA3:
inferred from 1 alleles
GenomeRNAi human phenotypes for LAMA3:
genes like me logo Genes that share phenotypes with LAMA3: view

Human Phenotype Ontology for LAMA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMA3 Gene

MGI Knock Outs for LAMA3:

miRNA for LAMA3 Gene

miRTarBase miRNAs that target LAMA3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LAMA3 Gene

Localization for LAMA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMA3 Gene COMPARTMENTS Subcellular localization image for LAMA3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA,TAS 8586427
genes like me logo Genes that share ontologies with LAMA3: view

Pathways & Interactions for LAMA3 Gene

genes like me logo Genes that share pathways with LAMA3: view

SIGNOR curated interactions for LAMA3 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 8586427
GO:0022617 extracellular matrix disassembly TAS --
GO:0030155 regulation of cell adhesion IEA --
GO:0030334 regulation of cell migration IEA --
GO:0035987 endodermal cell differentiation IEP 23154389
genes like me logo Genes that share ontologies with LAMA3: view

Drugs & Compounds for LAMA3 Gene

Products:

  1. Drug

(1) Additional Compounds for LAMA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMA3: view

Transcripts for LAMA3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for LAMA3 Gene

(10) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(165) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LAMA3 Gene

Laminin, alpha 3:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA3 Gene

No ASD Table

Relevant External Links for LAMA3 Gene

GeneLoc Exon Structure for
LAMA3
ECgene alternative splicing isoforms for
LAMA3

Expression for LAMA3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for LAMA3 Gene

mRNA expression in normal human tissues for LAMA3 Gene
mRNA expression by BioGPS for LAMA3 GenemRNA expression by GTEx for LAMA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMA3 Gene

This gene is overexpressed in Lung (15.8) and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LAMA3 Gene



SOURCE GeneReport for Unigene cluster for LAMA3 Gene Hs.436367

mRNA Expression by UniProt/SwissProt for LAMA3 Gene

Q16787-LAMA3_HUMAN
Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized tissues with prominent secretory or protective functions. Epithelial basement membrane, and epithelial cell tongue that migrates into a wound bed. A differential and focal expression of the subunit alpha-3 is observed in the CNS.
genes like me logo Genes that share expression patterns with LAMA3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for LAMA3 Gene

Orthologs for LAMA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia LAMA3 35
  • 84.84 (n)
  • 82.35 (a)
LAMA3 36
  • 82 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia LAMA3 35
  • 85.76 (n)
  • 81.88 (a)
LAMA3 36
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Lama3 35
  • 81.17 (n)
  • 78.68 (a)
Lama3 16
Lama3 36
  • 78 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia LAMA3 35
  • 99.36 (n)
  • 99.22 (a)
LAMA3 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Lama3 35
  • 80.46 (n)
  • 78.03 (a)
oppossum
(Monodelphis domestica)
 Mammalia LAMA3 36
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 50 (a)
 OneToMany
-- 36
  • 64 (a)
 OneToMany
-- 36
  • 62 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves LAMA3 35
  • 63.47 (n)
  • 57.27 (a)
LAMA3 36
  • 52 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia LAMA3 36
  • 55 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia lama3 35
  • 59.01 (n)
  • 50.58 (a)
zebrafish
(Danio rerio)
 Actinopterygii lama3 36
  • 30 (a)
 OneToMany
LAMA3 (1 of 2) 36
  • 33 (a)
 OneToMany
Species with no ortholog for LAMA3:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for LAMA3 Gene

ENSEMBL:
Gene Tree for LAMA3 (if available)
TreeFam:
Gene Tree for LAMA3 (if available)

Paralogs for LAMA3 Gene

Paralogs for LAMA3 Gene

(12) SIMAP similar genes for LAMA3 Gene using alignment to 12 proteins:

genes like me logo Genes that share paralogs with LAMA3: view

Variants for LAMA3 Gene

Sequence variations from dbSNP and Humsavar for LAMA3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs9952370 - 23,921,512(+) AAAAC(A/G)CTATA reference, missense
rs1154232 - 23,931,070(+) AGGAA(A/C/T)CTGCA reference, missense
rs17187262 - 23,822,334(+) TGGAA(A/C)TGAAG reference, missense
rs12457323 - 23,845,022(+) TCTAG(C/T)GGTGC reference, missense
rs17202961 - 23,845,027(+) TGGTG(A/C)CTGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LAMA3 Gene

Variant ID Type Subtype PubMed ID
esv2671824 CNV Deletion 23128226
esv2716865 CNV Deletion 23290073
esv2556502 CNV Deletion 19546169
esv2657446 CNV Deletion 23128226
nsv2228 CNV Insertion 18451855
esv2839 CNV Deletion 18987735
esv2664111 CNV Deletion 23128226
esv2716866 CNV Deletion 23290073

Variation tolerance for LAMA3 Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.80; 86.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMA3 Gene

Human Gene Mutation Database (HGMD)
LAMA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA3 Gene

Disorders for LAMA3 Gene

MalaCards: The human disease database

(17) MalaCards diseases for LAMA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
laryngoonychocutaneous syndrome
  • laryngo-onycho-cutaneous syndrome
epidermolysis bullosa, junctional, herlitz type
  • junctional epidermolysis bullosa, herlitz type
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa, junctional, localisata variant
cardiomyopathy, dilated, 1jj
  • cardiomyopathy, dilated 1jj
generalized junctional epidermolysis bullosa, non-herlitz type
  • junctional epidermolysis bullosa
- elite association - COSMIC cancer census association via MalaCards
Search LAMA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMA3_HUMAN
  • Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo-epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. {ECO:0000269 PubMed:7633458, ECO:0000269 PubMed:8530087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Laryngoonychocutaneous syndrome (LOCS) [MIM:245660]: Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. {ECO:0000269 PubMed:12915477}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMA3

Genetic Association Database (GAD)
LAMA3
Human Genome Epidemiology (HuGE) Navigator
LAMA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMA3
genes like me logo Genes that share disorders with LAMA3: view

No data available for Genatlas for LAMA3 Gene

Publications for LAMA3 Gene

  1. Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. (PMID: 8077230) Ryan M.C. … Carter W.G. (J. Biol. Chem. 1994) 2 3 4 23 67
  2. Adhesion and migration, the diverse functions of the laminin alpha3 subunit. (PMID: 19945619) Hamill K.J. … Jones J.C. (Dermatol Clin 2010) 3 23
  3. Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization. (PMID: 19773554) Hamill K.J. … McLean W.H. (J. Biol. Chem. 2009) 3 23
  4. Exon array analysis of head and neck cancers identifies a hypoxia related splice variant of LAMA3 associated with a poor prognosis. (PMID: 19936049) Moller-Levet C.S. … Miller C.J. (PLoS Comput. Biol. 2009) 3 23
  5. Divergent mechanisms underlie Smad4-mediated positive regulation of the three genes encoding the basement membrane component laminin-332 (laminin-5). (PMID: 18664273) Zboralski D. … Schwarte-Waldhoff I. (BMC Cancer 2008) 3 23

Products for LAMA3 Gene

Sources for LAMA3 Gene

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