LAMA1 laminin subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMA1provided by HGNC
Official Full Name: laminin subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:6481
See related: Ensembl:ENSG00000101680 MIM:150320; AllianceGenome:HGNC:6481
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: LAMA; PTBHS; S-LAM-alpha
Summary: This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]
Expression: Biased expression in testis (RPKM 6.1), thyroid (RPKM 2.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.31

Exon count:: 63

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (6941742..7117797, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (7102299..7278323, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (6941741..7117796, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variability of retinopathy consequent upon novel mutations in LAMA1.
Title: Variability of retinopathy consequent upon novel mutations in LAMA1.
Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation.
Title: Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation.
Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression.
Title: Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression.
Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain.
Title: Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain.
intrinsic interaction between AG73 in the tumor environment and the proteoglycan receptors Sdcs on breast cancer cells in supporting tumor cell adhesion and invasion through filopodia, is an important step in cancer metastasis.
Title: The Laminin-α1 Chain-Derived Peptide, AG73, Binds to Syndecans on MDA-231 Breast Cancer Cells and Alters Filopodium Formation.
We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics
Title: Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
LAMA1 SNP rs2089760 plays an important role in the development of PM.
Title: Effect of a Single Nucleotide Polymorphism in the LAMA1 Promoter Region on Transcriptional Activity: Implication for Pathological Myopia.
LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Patient-derived fibroblasts have impaired adhesion, reduced migration, abnormal morphology and increased apoptosis due to impaired activation of Cdc42, a member of the Rho family of GTPases that is involved in cytoskeletal dynamics.
Title: Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Sixteen novel LAMA1 variants were identified in fourteen families with Poretti-Boltshauser syndrome. The frameshift variant c.[2935delA] recurred in six unrelated families on a shared haplotype, suggesting a founder effect.
Title: Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Taken together, these findings suggest that miR-202 may function as a novel tumor suppressor in ESCC by repressing cell proliferation and migration, and its biological effects may attribute the inhibition of LAMA1-mediated FAK-PI3K-Akt signaling.
Title: MicroRNA-202 inhibits tumor progression by targeting LAMA1 in esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MedGen: C4014821 OMIM: 615960 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. EBI GWAS Catalog EBI GWAS CatalogPubMed
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-173636 (e-PCR)
- UniSTS:185404

SHGC-81499 (e-PCR)
- UniSTS:103527

SHGC-110348 (e-PCR)
- UniSTS:167793

SHGC-79763 (e-PCR)
- UniSTS:101083

RH120747 (e-PCR)
- UniSTS:132829

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables glycosphingolipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelial sheet	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of muscle cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of basement membrane organization	NAS Non-traceable Author Statement more info	PubMed
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 retinal blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of laminin-1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of laminin-3 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein complex involved in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: laminin subunit alpha-1

Names: S-LAM alpha; S-laminin subunit alpha; laminin A chain; laminin, alpha 1; laminin-3 subunit alpha

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.

Genomic

NG_034251.1 RefSeqGene

Range

5018..181073

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005559.4 → NP_005550.2 laminin subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_005550.2

Status: REVIEWED

Source sequence(s)

AP002409, AP005062, AP005210

Consensus CDS

CCDS32787.1

UniProtKB/Swiss-Prot

P25391

Related

ENSP00000374309.3, ENST00000389658.4

Conserved Domains (11) summary

smart00136
Location:16 → 268

LamNT; Laminin N-terminal domain (domain VI)

smart00281
Location:563 → 695

LamB; Laminin B domain

smart00282
Location:2141 → 2280

LamG; Laminin G domain

COG1196
Location:1720 → 1986

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00055
Location:848 → 900

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:2307 → 2463

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:1575 → 1830

Laminin_I; Laminin Domain I

pfam06009
Location:2011 → 2145

Laminin_II; Laminin Domain II

pfam00052
Location:1218 → 1344

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:902 → 948

Laminin_EGF; Laminin EGF domain

pfam00054
Location:2743 → 2872

Laminin_G_1; Laminin G domain