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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]
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 Integrin Pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is LAMA5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0005178 | integrin binding | IBA | 21873635 |
GO:0005198 | structural molecule activity | NAS | 8586427 |
GO:0005201 | extracellular matrix structural constituent | RCA | 27068509 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005604 | basement membrane | TAS | 8586427 |
GO:0005610 | laminin-5 complex | IEA,IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA | 27068509 |
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 |
.45
|
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Collagen chain trimerization | ||
5 | Cell junction organization |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001738 | morphogenesis of a polarized epithelium | IBA | 21873635 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007229 | integrin-mediated signaling pathway | IBA | 21873635 |
GO:0007411 | axon guidance | IBA | 21873635 |
GO:0008544 | epidermis development | TAS | 8586427 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Lanoteplase | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LAMA3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lama3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lama3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | LAMA3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | LAMA3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LAMA3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lama3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LAMA3 (1 of 2) 31 |
|
OneToMany | |
lama3 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
650425 | Likely Pathogenic: not provided | 23,914,562(+) | G/T | SPLICE_DONOR_VARIANT | |
653457 | Pathogenic: not provided | 23,946,244(+) | C/T | MISSENSE_VARIANT | |
653552 | Pathogenic: not provided | 23,949,809(+) | GC/G | FRAMESHIFT_VARIANT | |
707965 | Benign: not provided | 23,876,307(+) | G/T | MISSENSE_VARIANT | |
708962 | Conflicting Interpretations: Junctional epidermolysis bullosa gravis of Herlitz; Laryngo-onycho-cutaneous syndrome; not provided | 23,921,039(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2556502 | CNV | deletion | 19546169 |
esv2657446 | CNV | deletion | 23128226 |
esv2664111 | CNV | deletion | 23128226 |
esv2671824 | CNV | deletion | 23128226 |
esv2716865 | CNV | deletion | 23290073 |
esv2716866 | CNV | deletion | 23290073 |
esv2839 | CNV | loss | 18987735 |
esv3330301 | CNV | duplication | 20981092 |
esv3641972 | CNV | loss | 21293372 |
esv3641973 | CNV | loss | 21293372 |
esv3641974 | CNV | loss | 21293372 |
nsv1060031 | CNV | gain | 25217958 |
nsv2228 | CNV | insertion | 18451855 |
nsv478454 | CNV | novel sequence insertion | 20440878 |
nsv952692 | CNV | deletion | 24416366 |
nsv978622 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
laryngoonychocutaneous syndrome |
|
|
epidermolysis bullosa, junctional, herlitz type |
|
|
epidermolysis bullosa, junctional, non-herlitz type |
|
|
junctional epidermolysis bullosa |
|
|
epidermolysis bullosa |
|