LAMA3 (laminin subunit alpha 3)

2007-02-01  

Identity

HGNC
LAMA3
LOCATION
18q11.2
LOCUSID
3909
ALIAS
BM600,E170,LAMNA,LOCS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3909
MIM: 600805
HGNC: 6483
Ensembl: ENSG00000053747

Variants:

dbSNP: 3909
ClinVar: 3909
TCGA: ENSG00000053747
COSMIC: LAMA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000053747ENST00000269217A0A0A6YYF2
ENSG00000053747ENST00000313654Q16787
ENSG00000053747ENST00000399516A0A0A0MSA0
ENSG00000053747ENST00000585600A0A075B783
ENSG00000053747ENST00000586751K7EIP4
ENSG00000053747ENST00000587184A0A0A0MTS5
ENSG00000053747ENST00000588004K7ERM0
ENSG00000053747ENST00000588164K7EPP3
ENSG00000053747ENST00000590104K7EMU9
ENSG00000053747ENST00000592519K7EQ42
ENSG00000053747ENST00000649721A0A3B3ITG1

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
Metabolic pathwaysKEGGhsa01100
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Type I hemidesmosome assemblyREACTOMER-HSA-446107
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Anchoring fibril formationREACTOMER-HSA-2214320
Laminin interactionsREACTOMER-HSA-3000157
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
ECM proteoglycansREACTOMER-HSA-3000178
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Signaling by METREACTOMER-HSA-6806834
MET promotes cell motilityREACTOMER-HSA-8875878
MET activates PTK2 signalingREACTOMER-HSA-8874081

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
129471062003Normal human keratinocytes bind to the alpha3LG4/5 domain of unprocessed laminin-5 through the receptor syndecan-1.27
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
199401142010Bisecting GlcNAc residues on laminin-332 down-regulate galectin-3-dependent keratinocyte motility.24
153160722004Globular domains 4/5 of the laminin alpha3 chain mediate deposition of precursor laminin 5.22
170000252007Biological function of laminin-5 and pathogenic impact of its deficiency.20
146951392003Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma.19
170718542006Regulation of proliferation and chondrogenic differentiation of human mesenchymal stem cells by laminin-5 (laminin-332).19
199360492009Exon array analysis of head and neck cancers identifies a hypoxia related splice variant of LAMA3 associated with a poor prognosis.19
224341852012Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.19
146124402004Recombinant human laminin-5 domains. Effects of heterotrimerization, proteolytic processing, and N-glycosylation on alpha3beta1 integrin binding.17

Citation

Dessen P

LAMA3 (laminin subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45590/lama3