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LAMA3 laminin subunit alpha 3 [ Homo sapiens (human) ]

Gene ID: 3909, updated on 24-Nov-2020

Summary

Official Symbol
LAMA3provided by HGNC
Official Full Name
laminin subunit alpha 3provided by HGNC
Primary source
HGNC:HGNC:6483
See related
Ensembl:ENSG00000053747 MIM:600805
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E170; LOCS; BM600; LAMNA
Summary
The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Broad expression in lung (RPKM 10.8), stomach (RPKM 10.0) and 18 other tissues See more
Orthologs

Genomic context

See LAMA3 in Genome Data Viewer
Location:
18q11.2
Exon count:
78
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (23689443..23955066)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21269562..21535030)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 29 Neighboring gene ribosomal protein S10 pseudogene 27 Neighboring gene ribosomal protein L23a pseudogene 77 Neighboring gene uncharacterized LOC107985181 Neighboring gene uncharacterized LOC105372023

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
GeneReviews: Not available
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
GeneReviews: Not available
Junctional epidermolysis bullosa gravis of Herlitz Compare labs
Junctional epidermolysis bullosa, non-Herlitz type Compare labs
Laryngo-onycho-cutaneous syndrome
MedGen: C1328355 OMIM: 245660 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hemidesmosome assembly TAS
Traceable Author Statement
more info
 
integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
morphogenesis of a polarized epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
regulation of embryonic development IEA
Inferred from Electronic Annotation
more info
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
laminin-5 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
laminin subunit alpha-3
Names
BM600 150kD subunit
LAM3, alpha-3 subunit
epiligrin 170 kda subunit
epiligrin alpha 3 subunit
kalinin 165kD subunit
kalinin subunit alpha
laminin 5, alpha-3 subunit
laminin A3
laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
laminin-5 alpha 3 chain
laminin-5 subunit alpha
laminin-6 subunit alpha
laminin-7 subunit alpha
nicein 150kD subunit
nicein subunit alpha

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007853.2 RefSeqGene

    Range
    4856..271625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000227.6NP_000218.3  laminin subunit alpha-3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_000218.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a distinct 5' UTR, lacks exons in the 5' coding region, and uses an alternate start codon compared to variant 1. The encoded isoform (2, also known as alpha3a) has a distinct and shorter N-terminus than isoform 1. Variants 2 and 4 encode "a" isoforms.
    Source sequence(s)
    AA001432, AC010754, AY327115, DA862923, KF456351, L34155
    Consensus CDS
    CCDS11880.1
    UniProtKB/Swiss-Prot
    Q16787
    UniProtKB/TrEMBL
    A0A0A6YYF2
    Related
    ENSP00000269217.5, ENST00000269217.10
    Conserved Domains (7) summary
    COG0840
    Location:399779
    Tar; Methyl-accepting chemotaxis protein [Cell motility, Signal transduction mechanisms]
    cd00055
    Location:77123
    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:15491700
    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:125175
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:236495
    Laminin_I; Laminin Domain I
    pfam06009
    Location:679807
    Laminin_II; Laminin Domain II
    cl21509
    Location:483647
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  2. NM_001127717.4NP_001121189.2  laminin subunit alpha-3 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also called b2) lacks an in-frame exon in the coding region compared to variant 1. It encodes isoform 3 (also known as alpha3b2), which is shorter than isoform 1. Variants 1 and 3 encode "b" isoforms.
    Source sequence(s)
    AA001432, AC010754, AK096422, AY327116, KF456351
    Consensus CDS
    CCDS45838.1
    UniProtKB/Swiss-Prot
    Q16787
    UniProtKB/TrEMBL
    A0A0A0MSA0
    Related
    ENSP00000382432.2, ENST00000399516.7
    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15141641
    LamB; Laminin B domain
    smart00282
    Location:23792514
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:31023253
    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:12661314
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18452048
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22322360
    Laminin_II; Laminin Domain II
    cl21509
    Location:20362200
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  3. NM_001127718.4NP_001121190.2  laminin subunit alpha-3 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001121190.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a distinct 5' UTR, lacks exons in the 5' coding region, lacks an internal in-frame exon, and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 4 encode "a" isoforms.
    Source sequence(s)
    AA001432, AC010754, AY327114, DA862923, KF456351
    Consensus CDS
    CCDS59307.1
    UniProtKB/Swiss-Prot
    Q16787
    UniProtKB/TrEMBL
    A0A0A0MTS5
    Related
    ENSP00000466557.1, ENST00000587184.5
    Conserved Domains (6) summary
    cd00055
    Location:77123
    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:14931644
    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:125175
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:236439
    Laminin_I; Laminin Domain I
    pfam06009
    Location:623751
    Laminin_II; Laminin Domain II
    cl21509
    Location:427591
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  4. NM_001302996.2NP_001289925.1  laminin subunit alpha-3 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as LN1) lacks a large portion of the 3' coding region and has a distinct 3' coding region and 3' UTR compared to variant 1. The encoded isoform (5, also known as LaNt alpha31) has a distinct and shorter C-terminus than isoform 1. This variant is supported by experimental data in PMID:19773554.
    Source sequence(s)
    AC067796, AI125611, AK096422, AY327115
    UniProtKB/Swiss-Prot
    Q16787
    Conserved Domains (3) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    cd00055
    Location:299344
    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:356423
    Laminin_EGF; Laminin EGF domain
  5. NM_198129.4NP_937762.2  laminin subunit alpha-3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_937762.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as b1, represents the longest transcript and encodes the longest isoform (1, also known as alpha3B1). Variants 1 and 3 encode "b" isoforms.
    Source sequence(s)
    AB107369, AC010754, AC067796
    Consensus CDS
    CCDS42419.1
    UniProtKB/Swiss-Prot
    Q16787
    Related
    ENSP00000324532.8, ENST00000313654.13
    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15141641
    LamB; Laminin B domain
    smart00282
    Location:24352570
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:31583309
    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:12661314
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18452104
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22882416
    Laminin_II; Laminin Domain II
    cl21509
    Location:20922256
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RNA

  1. NR_130106.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks multiple 3' exons and uses an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon results in an open reading frame without a stop codon and renders the transcript a candidate for non-stop decay.
    Source sequence(s)
    AK096422, BC033663, BC093406
    Related
    ENST00000585600.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    23689443..23955066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525978.2XP_011524280.1  laminin subunit alpha-3 isoform X1

    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15231650
    LamB; Laminin B domain
    smart00282
    Location:24442579
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:31673318
    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:12751323
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18542113
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22972425
    Laminin_II; Laminin Domain II
    cl21509
    Location:21012265
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  2. XM_011525982.2XP_011524284.1  laminin subunit alpha-3 isoform X5

    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15231650
    LamB; Laminin B domain
    smart00282
    Location:23452480
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:30683219
    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:12751323
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18542113
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22172326
    Laminin_II; Laminin Domain II
    cl21509
    Location:20662196
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  3. XM_011525980.2XP_011524282.1  laminin subunit alpha-3 isoform X3

    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15171644
    LamB; Laminin B domain
    smart00282
    Location:24382573
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:31613312
    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:12691317
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18482107
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22912419
    Laminin_II; Laminin Domain II
    cl21509
    Location:20952259
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  4. XM_011525979.2XP_011524281.1  laminin subunit alpha-3 isoform X2

    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:15201647
    LamB; Laminin B domain
    smart00282
    Location:24412576
    LamG; Laminin G domain
    cd00055
    Location:535577
    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:31643315
    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:12721320
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18512110
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22942422
    Laminin_II; Laminin Domain II
    cl21509
    Location:20982262
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  5. XM_011525981.2XP_011524283.1  laminin subunit alpha-3 isoform X4

    Conserved Domains (9) summary
    smart00136
    Location:46297
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:14791606
    LamB; Laminin B domain
    smart00282
    Location:24002535
    LamG; Laminin G domain
    cd00055
    Location:491533
    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:31233274
    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:12311279
    Laminin_EGF; Laminin EGF domain
    pfam06008
    Location:18102069
    Laminin_I; Laminin Domain I
    pfam06009
    Location:22532381
    Laminin_II; Laminin Domain II
    cl21509
    Location:20572221
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  6. XM_017025743.1XP_016881232.1  laminin subunit alpha-3 isoform X6

    Related
    ENSP00000497885.1, ENST00000649721.1
  7. XM_017025744.1XP_016881233.1  laminin subunit alpha-3 isoform X7

RNA

  1. XR_001753199.1 RNA Sequence

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