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Aliases for LAMA3 Gene

Aliases for LAMA3 Gene

  • Laminin, Alpha 3 2 3
  • 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 Subunit Alpha-3 3
  • 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 A3 3
  • Kalinin 6
  • BM600 3
  • 165kD 6
  • LOCS 3

External Ids for LAMA3 Gene

Previous Symbols for LAMA3 Gene

  • LAMNA

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, Alpha 3) is a Protein Coding gene. Diseases associated with LAMA3 include cardiomyopathy, dilated, 1jj and laryngoonychocutaneous syndrome. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include receptor binding and structural molecule 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

Genomic Location for LAMA3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAMA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMA3 Gene

Regulatory Elements for LAMA3 Gene

Proteins for LAMA3 Gene

  • 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

Post-translational modifications for LAMA3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn745, Asn882, Asn964, Asn1131, Ser1355, Asn1477, Asn142, and Asn242

No data available for DME Specific Peptides for LAMA3 Gene

Domains for LAMA3 Gene

Gene Families for LAMA3 Gene

HGNC:
  • LAM :Laminins

Graphical View of Domain Structure for InterPro Entry

Q16787

UniProtKB/Swiss-Prot:

LAMA3_HUMAN
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure:
    • Q16787
  • Domain G is globular:
    • Q16787
  • Contains 15 laminin EGF-like domains.:
    • Q16787
  • Contains 5 laminin G-like domains.:
    • Q16787
  • Contains 1 laminin IV type A domain.:
    • Q16787
  • Contains 1 laminin N-terminal domain.:
    • Q16787
genes like me logo Genes that share domains with LAMA3: view

Function for LAMA3 Gene

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

Gene Ontology (GO) - Molecular Function for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0004871 signal transducer activity --
GO:0005102 receptor binding IEA --
GO:0005198 structural molecule activity NAS 8586427
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LAMA3: view
genes like me logo Genes that share phenotypes with LAMA3: view

Animal Models for LAMA3 Gene

MGI Knock Outs for LAMA3:

miRNA for LAMA3 Gene

miRTarBase miRNAs that target LAMA3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane TAS 8586427
GO:0005606 laminin-1 complex IEA --
GO:0005610 laminin-5 complex IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with LAMA3: view

Pathways for LAMA3 Gene

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

Gene Ontology (GO) - Biological Process for LAMA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction --
GO:0008544 epidermis development TAS 8586427
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with LAMA3: view

Compounds for LAMA3 Gene

(1) Novoseek inferred chemical compound relationships for LAMA3 Gene

Compound -log(P) Hits PubMed IDs
kalinin 81.5 3
genes like me logo Genes that share compounds with LAMA3: view

Transcripts for LAMA3 Gene

Unigene Clusters for LAMA3 Gene

Laminin, alpha 3:
Representative Sequences:

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

mRNA expression in normal human tissues for LAMA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with LAMA3: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia LAMA3 35
  • 99.36 (n)
  • 99.22 (a)
LAMA3 36
  • 99 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Lama3 35
  • 80.46 (n)
  • 78.03 (a)
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

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 MAF
rs720064 -- 23,890,360(-) TTTTT(A/T)AAAAA intron-variant
rs729814 -- 23,903,242(+) AGATG(A/G)AAGAG intron-variant
rs734731 -- 23,910,070(-) GGTGC(A/G)TTCTT intron-variant
rs734890 -- 23,922,982(-) TGTCA(A/G)CACCC intron-variant
rs746133 -- 23,922,843(-) ACTCA(A/G)TAAAT intron-variant

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

Relevant External Links for LAMA3 Gene

HapMap Linkage Disequilibrium report
LAMA3
Human Gene Mutation Database (HGMD)
LAMA3

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

Disorders for LAMA3 Gene

(3) OMIM Diseases for LAMA3 Gene (600805)

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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for LAMA3 Gene

(14) Novoseek inferred disease relationships for LAMA3 Gene

Disease -log(P) Hits PubMed IDs
epidermolysis bullosa junctional 96.5 15
lethal junctional epidermolysis bullosa 84.7 1
epidermolysis bullosa 78.1 1
pemphigoid cicatricial 72.9 1
epidermolysis bullosa acquisita 62 2

Relevant External Links for LAMA3

GeneTests
LAMA3
GeneReviews
LAMA3
Genetic Association Database (GAD)
LAMA3
Human Genome Epidemiology (HuGE) Navigator
LAMA3
genes like me logo Genes that share disorders with LAMA3: view

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
  2. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (PMID: 12915477) McLean W.H.I. … McGrath J.A. (Hum. Mol. Genet. 2003) 3 4 23
  3. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. (PMID: 8586427) Vidal F. … Meneguzzi G. (Genomics 1995) 3 4 23
  4. Fibroblasts contribute to the deposition of laminin 5 in the extracellular matrix. (PMID: 15149852) Elkhal A. … Aumailley M. (Exp. Cell Res. 2004) 3 23
  5. Quantitative analysis of laminin 5 gene expression in human keratinocytes. (PMID: 15854126) Akutsu N. … Nishiyama T. (Exp. Dermatol. 2005) 3 23

Products for LAMA3 Gene

Sources for LAMA3 Gene

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