Lama3 laminin, alpha 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lama3provided by MGI
Official Full Name: laminin, alpha 3provided by MGI
Primary source: MGI:MGI:99909
See related: Ensembl:ENSMUSG00000024421 AllianceGenome:MGI:99909
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: [a]3B; Lama3B
Summary: Predicted to enable integrin binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including axon guidance; integrin-mediated signaling pathway; and morphogenesis of a polarized epithelium. Located in basement membrane. Part of laminin-5 complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and skin. Used to study junctional epidermolysis bullosa and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa; junctional epidermolysis bullosa Herlitz type; junctional epidermolysis bullosa non-Herlitz type; and lung small cell carcinoma. Orthologous to human LAMA3 (laminin subunit alpha 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 9.8), colon adult (RPKM 3.3) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 6.2 cM

Exon count:: 78

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (12466806..12716070)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (12333417..12583013)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A missense mutation in Lama3 causes androgen alopecia.
Title: A missense mutation in Lama3 causes androgen alopecia.
Heterozygous nonsense variants in laminin subunit 3alpha resulting in Ebstein's anomaly.
Title: Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.
the gradual disappearance of alpha3 chain-containing laminins along the dermal-epidermal junction and formation of subepidermal blisters like in congenital junctional epidermis bullosa.
Title: Targeted Disruption of the Lama3 Gene in Adult Mice Is Sufficient to Induce Skin Inflammation and Fibrosis.
The expression of integrin-alpha6beta4 and laminin-5 (alpha3, beta3, gamma2) mRNAs was significantly higher on SA-treated c.p.Ti than on c.p.Ti and AO c.p.Ti disks after 3 days (P<0.05).
Title: Anodized-hydrothermally treated titanium with a nanotopographic surface structure regulates integrin-α6β4 and laminin-5 gene expression in adherent murine gingival epithelial cells.
immunofluorescence analyses revealed a basement membrane staining in epithelial tissue for LaNt alpha3 and LaNt alpha3 localized along the substratum-associated surface of cultured keratinocytes.
Title: Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization.
alpha3B chain was scarcely detected in the vessels of malignant skin cancers, though the gamma2 and beta3 chains were highly expressed in the cancer cells.
Title: Localization of laminin alpha3B chain in vascular and epithelial basement membranes of normal human tissues and its down-regulation in skin cancers.
Deletion of the Lama3 gene leads to abnormnal development of glomerular endothelial and mesangial cells.
Title: Abnormal development of glomerular endothelial and mesangial cells in mice with targeted disruption of the lama3 gene.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18Mit146 (e-PCR), detects polymorphism
- UniSTS:128165

PMC113197P1 (e-PCR)
- UniSTS:270249

X84013 (e-PCR)
- UniSTS:125874

X84014 (e-PCR)
- UniSTS:160713

MARC_1767-1768:991931306:1 (e-PCR)
- UniSTS:230861

30.MMHAP11FLB6.seq (e-PCR)
- UniSTS:123888

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in hemidesmosome assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of embryonic development	IEA Inferred from Electronic Annotation more info
involved_in tissue development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in adherens junction	ISO Inferred from Sequence Orthology more info
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in hemidesmosome	ISO Inferred from Sequence Orthology more info
part_of laminin-3 complex	ISO Inferred from Sequence Orthology more info
part_of laminin-5 complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: laminin subunit alpha-3

Names: epiligrin subunit alpha; kalinin subunit alpha; laminin-5 subunit alpha; laminin-6 subunit alpha; laminin-7 subunit alpha; nicein subunit alpha; nicein, 150kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001347461.2 → NP_001334390.1 laminin subunit alpha-3 isoform 3A precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (3A) with a distinct N-terminus, compared to isoform 3B.

Source sequence(s)

AC102131, AC139027

Consensus CDS

CCDS84360.1

UniProtKB/Swiss-Prot

Q61789

Related

ENSMUSP00000140104.2, ENSMUST00000188815.2
NM_010680.2 → NP_034810.1 laminin subunit alpha-3 isoform 3B precursor

See identical proteins and their annotated locations for NP_034810.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (3B).

Source sequence(s)

AC102131, AC102248, AC139027, AC157909

Consensus CDS

CCDS50222.1

UniProtKB/Swiss-Prot

E9PUR4, O08751, Q61788, Q61789, Q61966, Q9JHQ7

Related

ENSMUSP00000089703.7, ENSMUST00000092070.13

Conserved Domains (10) summary

smart00136
Location:40 → 294

LamNT; Laminin N-terminal domain (domain VI)

smart00281
Location:1509 → 1638

LamB; Laminin B domain

smart00282
Location:2431 → 2566

LamG; Laminin G domain

cd00055
Location:1401 → 1451

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:3155 → 3306

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00053
Location:1263 → 1311

Laminin_EGF; Laminin EGF domain

pfam06008
Location:1842 → 2101

Laminin_I; Laminin Domain I

pfam06009
Location:2284 → 2412

Laminin_II; Laminin Domain II

pfam17045
Location:1968 → 2248

CEP63; Centrosomal protein of 63 kDa

cl21509
Location:2090 → 2204

ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

12466806..12716070

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525691.5 → XP_006525754.1 laminin subunit alpha-3 isoform X6

Conserved Domains (4) summary

smart00136
Location:40 → 294

LamNT; Laminin N-terminal domain (domain VI)

smart00281
Location:1509 → 1638

LamB; Laminin B domain

cd00055
Location:1401 → 1451

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00053
Location:1263 → 1311

Laminin_EGF; Laminin EGF domain
XM_036160997.1 → XP_036016890.1 laminin subunit alpha-3 isoform X2

Conserved Domains (9) summary

smart00136
Location:40 → 294

LamNT; Laminin N-terminal domain (domain VI)

smart00281
Location:1509 → 1638

LamB; Laminin B domain

smart00282
Location:2432 → 2567

LamG; Laminin G domain

PRK11281
Location:2062 → 2380

PRK11281; mechanosensitive channel MscK

cd00055
Location:1401 → 1451

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:2599 → 2739

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam06008
Location:1844 → 2101

Laminin_I; Laminin Domain I

pfam06009
Location:2285 → 2413

Laminin_II; Laminin Domain II

pfam00053
Location:1263 → 1311

Laminin_EGF; Laminin EGF domain
XM_006525685.5 → XP_006525748.1 laminin subunit alpha-3 isoform X1

Conserved Domains (9) summary

smart00136
Location:40 → 294

LamNT; Laminin N-terminal domain (domain VI)

smart00281
Location:1509 → 1638

LamB; Laminin B domain

smart00282
Location:2432 → 2567

LamG; Laminin G domain

cd00055
Location:1401 → 1451

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:3156 → 3307

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

TIGR02168
Location:2062 → 2329

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam06008
Location:1844 → 2101

Laminin_I; Laminin Domain I

pfam00053
Location:1263 → 1311

Laminin_EGF; Laminin EGF domain

pfam06009
Location:2285 → 2413

Laminin_II; Laminin Domain II
XM_006525687.5 → XP_006525750.1 laminin subunit alpha-3 isoform X3

Conserved Domains (8) summary

smart00281
Location:348 → 477

LamB; Laminin B domain

smart00282
Location:1271 → 1406

LamG; Laminin G domain

cd00055
Location:240 → 290

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1995 → 2146

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

TIGR02168
Location:901 → 1168

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam06008
Location:683 → 940

Laminin_I; Laminin Domain I

pfam00053
Location:102 → 150

Laminin_EGF; Laminin EGF domain

pfam06009
Location:1124 → 1252

Laminin_II; Laminin Domain II
XM_036160998.1 → XP_036016891.1 laminin subunit alpha-3 isoform X4

Conserved Domains (9) summary

smart00281
Location:35 → 164

LamB; Laminin B domain

smart00282
Location:958 → 1093

LamG; Laminin G domain

PRK11281
Location:588 → 906

PRK11281; mechanosensitive channel MscK

cd00055
Location:209 → 255

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1682 → 1833

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00185
Location:292 → 330

TNFRSF; CRD2 [structural motif]

pfam06008
Location:370 → 627

Laminin_I; Laminin Domain I

pfam06009
Location:811 → 939

Laminin_II; Laminin Domain II

cl22855
Location:277 → 345

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_006525689.3 → XP_006525752.1 laminin subunit alpha-3 isoform X5

Conserved Domains (7) summary

smart00282
Location:826 → 961

LamG; Laminin G domain

cd00055
Location:77 → 123

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:1550 → 1701

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

TIGR02168
Location:456 → 723

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd00185
Location:148 → 217

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

pfam06008
Location:238 → 495

Laminin_I; Laminin Domain I

pfam06009
Location:679 → 807

Laminin_II; Laminin Domain II