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FLASH GENE

Symbol

LAMA5

contributors: mct/npt - updated : 28-01-2015

HGNC name	laminin, alpha 5
HGNC id	6485

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005560 80 - 11426 NP_005551 - 3695 - 2009 19773554 variant 3 12 - - isoform 3 - - heart, placenta, kidney, spleen, prostate, colon 2009 19773554 also called LAMA5LN1 ex 1–11 + 11e LaNt alpha51 (laminin N terminus) may play important roles in regulating laminin matrix functions and its expression is up-regulated during wound healing variant 2 12 - - isoform 2 - - kidney, spleen, small intestine 2009 19773554 also called LAMA5LN2 ex 1–11 + 12* LaNt alpha52 (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 Homo sapiens Nervous nerve       highly Reproductive female system breast     highly Homo sapiens Respiratory lung       highly Homo sapiens Skin/Tegument skin       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     lowly Epithelial barrier lining retinal pigment epithelium (RPE)   moderately Muscular striatum skeletal   moderately

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	embryonic tissue at an highly level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain, with the N-terminal domains within the lamina densa (Rousselle 1997), with three globular domains (LN, L4a, and L4b) and three rodlike elements (LEa, LEb, and LEc)
	4 laminin A/neurexin/sex hormone-binding (LNS) globular domains
	22 EGF-like motifs
	a long arm composed of hepstad repeats typical of a cell alpha helical coiled-coil protein
	C-terminal G domain apposed to the hemidesmosomal integrin,

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to murine Lama5 (79.83 pc)
	homolog to rattus Lama5 (79.95 pc)

Homologene

FAMILY

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus

basic FUNCTION	binding to cells via a high affinity receptor
	appears as a thin filament bridging the hemidesmosome with the anchoring fibrils (Rousselle 1997)
	mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
	important regulator of ADPKD cell proliferation and cystogenesis
	stimulates osteogenic gene expression in mesenchymal stem cells, in the absence of any other osteogenic stimulus (Klees 2007)
	activates extracellular matrix production and osteogenic gene focusing in human mesenchymal stem cells (Klees 2007)
	in intact skin, provides essential links to both the hemidesmosomal alpha6beta4 integrin and the collagen type VII molecules which form the anchoring fibrils inserting into the dermis (Schneider 2007)
	major contributions to the resistance of the epidermis against frictional stress but also for basement membrane regeneration and repair of damaged skin (Schneider 2007)
	predominant role in blood lymphocyte biology and identifies lymph nodes laminins and their integrin receptors in blood lymphocytes (Gorfu 2008)
	crucial motility-promoting factor for B-CLL lymphocytes and as a potential constituent favoring the dissemination of B-CLL lymphocytes through vascular basement membranes and possibly lymph node compartments (Spessotto 2007)
	extracellular matrix protein containing multiple domains implicated in various biological processes, such as embryogenesis and renal function
	plays a crucial role in both epithelial and mesenchymal cell behavior by inhibiting WNT and activating PI3K signaling
	proper expression of LAMB3 and LAMA5 may regulate appropriate hair morphogenesis

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of basement membrane zone
	LAMA5 heterotrimerization with beta-2 and gamma-3 chains conducing to Laminin 15
	key component of the anchoring complex connecting keratinocytes to the underlying dermis (Schneider 2007)
	heterotrimeric complexes of alpha, beta, and gamma chains, with each chain type representing a different subfamily of proteins

INTERACTION

DNA

RNA

small molecule

protein	binds the NH2-terminal NC1 domain of type VII collagen (Rousselle 1997)
	BCAM is a specific receptor for LAMA5, a major component of basement membranes in various tissues
	preferential binding of Lu/BCAM to LAMA5 promotes tumor cell migration

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         null expression in prostate carcinoma constitutional     --other   aberrantly expressed in the pericystic ECM of AD polycystic kidneys constitutional       loss of function absence of functional LAMA5, leads to phenotype of Herlitz junctional epidermolysis bullosa (Schneider 2007)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutation of the mouse laminin alpha5 gene results in a variety of developmental defects, including defects in kidney structure and function