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FLASH GENE

Symbol

LAMA3

contributors: mct/npt/pgu - updated : 24-03-2020

HGNC name	laminin, alpha 3
HGNC id	6483

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBJ1C epidermolysis bullosa, junctional , Herlitz type EBJ2C epidermolysis bullosa junctional, non-Herlitz type LOCS laryngo-onycho-cutaneous syndrome
Location	18q11.2      Physical location : 21.269.561 - 21.535.027
Synonym name	laminin alpha 3 compoment of the laminin 5 basement membrane protein
	laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin
Synonym symbol(s)	LAMNA, C3A6, E170, LAMA3A, BM600, Lm3B11, Lm3B21, Lm3B11

DNA

TYPE	functioning gene
STRUCTURE	266.78 kb     76 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000227 38 splicing 5623 NP_000218 190.4 1724 placenta, pancreas, thymus, prostate, lung, colon, keratinocytes 2010 20805229 isoform 1 known as LAM Alpha 3a (LAMA3A) differring in the 5' UTR and the 5' coding region compared to variant 1 containing exon 1b (shorter than 1a) involved in tumour cell invasion and progression initiated from an internal site in intron 38, encoding the N-terminally truncated laminin alpha3a protein NM_198129 76 splicing 10511 NP_937762 366.5 3333 highly expressed in placenta, lung, pancreas, and prostate, expressed in both endothelial and epithelial cells and in the in vascular basement menbrane 2010 20805229 isoform 1 known as LAM Alpha 3b (LAMA3B) laminin-3B11, and laminin-3B21 containing exon 1a (longer than 1b) containing exont 75a (longer than 75b) encoding for the longest product NM_001302996 9 - 1751 NP_001289925 - 488 - 2010 20805229 LN1 NM_001127718 37 - 5455 NP_001121190 - 1668 - 2010 20805229 NM_001127717 74 - 10343 NP_001121189 - 3277 - 2010 20805229 variant 5 10 - - isoform 5 64 - placenta, testis, heart, lung, prostate, small intestine, leukocytes, keratinocytes 2010 20805229 also called LAMA3LN1 ex 1& 65533;9 + 9e LaNt (Laminin N terminus) alpha31 may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing variant 6 26 - - isoform 6 - 1039 placenta, liver thymus, prostate 2010 20805229 also called LAMA3LN2a ex 1& 65533;25 + 25e LaNt alpha 32a (laminin N terminus) may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing variant 7 12 - - isoform 7 - 994 liver, leukocytes 2010 20805229 also called LAMA3LN2b ex 1& 65533;9, 10&65533;25 + 25e LaNt alpha32b (laminin N terminus) may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly   intestine large intestine colon   highly   mouth       predominantly Lymphoid/Immune thymus       highly Reproductive female system placenta     highly   male system prostate     highly Respiratory respiratory tract trachea     lowly   respiratory tract larynx     highly Skin/Tegument skin       lowly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   lowly

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	early in developing embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three laminin A/neurexin/sex hormone-binding (LNS) globular domains
	N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain
	a N-terminal domain
	a short stretch of laminin-type epidermal growth factor-like repeats
	a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
	five globular domains, binding to integrins and/or dystroglycan in the C terminal region

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to murine Lama3 (78.13 pc)

Homologene

FAMILY

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	in the basement membrane
	extracellular matrix, component of the basal lamina of kreatinocyte

basic FUNCTION	mediating the attachment, migration and organization of cells into tissues during embryonic development and key regulator of the granulation tissue response
	expression level and base mutation of LAMA3 gene can change the level of laminin, which have a certain influence on the onset and prognosis of ovarian cancer

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

a component	constituent of cutaneous basement membrane zone
	heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5 (kalinin/nicein)

INTERACTION

DNA

RNA

small molecule

protein	ITGA3
	ITGA6
	ITGB1
	ITGB4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBJ1C , EBJ2C , LOCS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   lower in ovarian carcinoma tissues than those in normal tissues and para-carcinoma tissues

Susceptibility

to idiopathic pulmonary fibrosis (IPF) to atopic dermatitis (AD)

Variant & Polymorphism other	rare missense variants in LAMA3 were identified that have a statistically significant relationship with IPF
	potential susceptibility gene for AD

Candidate gene
Marker	LAMA3 is a potential therapeutic targets and prognostic markers for pancreatic ductal adenocarcinoma (PDAC)
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas is a potential therapeutic targets for pancreatic ductal adenocarcinoma (PDAC)

ANIMAL & CELL MODELS

targeted disruption of the Lama3 Gene in adult mice is sufficient to induce skin inflammation and fibrosis