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FLASH GENE

Symbol

LAMA1

contributors: mct/npt - updated : 23-06-2010

HGNC name	laminin, alpha 1
HGNC id	6481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PTBHS Poretti-Boltshauser syndrome
Location	18p11.31      Physical location : 6.941.887 - 7.117.813
Synonym name	laminin A chain
	S-laminin subunit alpha
	laminin-3 subunit alpha
Synonym symbol(s)	LAMA

DNA

TYPE	functioning gene
STRUCTURE	175.93 kb     63 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	an Sp1-binding GC box and a Kruppel-like element, was important for the promoter activity
	contains a number of GC- and GT/A-rich motifs for the binding of the Sp family of transcription factors

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005559 63 - 9530 NP_005550 - 3075 - 1999 10341208

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 intestine large intestine colon   lowly   pharynx       lowly Endocrine thyroid       highly Nervous brain       lowly Reproductive female system ovary     lowly   male system testis     highly Respiratory respiratory tract trachea     lowly Skin/Tegument skin       moderately Urinary bladder       moderately   kidney       moderately Visual eye       lowly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic tissue at an highly level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

conjugated

GlycoP

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to rattus Lama1 (76.96 pc)
	homolog to murine Lama1 (76.61 pc)

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	basement membrane

basic FUNCTION	may be mediating the attachment, migration and
	organization of cells into tissues during embryonic development by interacting with other matrix components
	showing a restricted and developmentally regulated expression in basement membrane of distinct epithelial tissues
	role of LAMA1 in ocular development (Edwards 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	constituent of cutaneous basement membrane zone
	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
	LAMA1 is a subunit of laminin 1 (EHS laminin) and laminin 3 (S-laminin)

INTERACTION

DNA

RNA

small molecule

protein

interacting with TINAGL1, a novel component of the Reichert membrane that interacts with laminin 1(Igarashi 2009)

cell & other

REGULATION

Other

transcription is controlled by a combination of the actions of Sp1/Sp3 and Krüppel-like factors, KLF4 and KLF6

ASSOCIATED DISORDERS

corresponding disease(s)

PTBHS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       disrupt retinal vascular development and inner limiting membrane formation (Edwards 2010)

Susceptibility

to high myopia (Sasaki 2007)

Variant & Polymorphism

Candidate gene	candidate genes for human retinal diseases (Edwards 2010)
Marker
Therapy target

ANIMAL & CELL MODELS

mouse model of retinal vasculopathy, nmf223, characterized clinically by vitreal fibroplasia and vessel tortuosity and reduced electroretinogram responses, and having a missense mutation identified in Lama1 (Edwards 2010)