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

Gene ID: 284217, updated on 1-Jun-2020

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
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

Genomic context

See LAMA1 in Genome Data Viewer
Location:
18p11.31
Exon count:
63
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (6941742..7117797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (6941743..7117813, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 668 Neighboring gene SCML2 pseudogene 1 Neighboring gene RNA, U6 small nuclear 916, pseudogene Neighboring gene uncharacterized LOC101927188 Neighboring gene Sharpr-MPRA regulatory region 1572 Neighboring gene SLC25A51 pseudogene 2 Neighboring gene leucine rich repeat containing 30

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
Poretti-Boltshauser syndrome
MedGen: C4014821 OMIM: 615960 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
glycosphingolipid binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
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 
blood vessel morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
branching involved in salivary gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
camera-type eye development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment of epithelial cell apical/basal polarity IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
 
retinal blood vessel morphogenesis 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 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
laminin-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
laminin-1 complex IPI
Inferred from Physical Interaction
more info
PubMed 
laminin-3 complex IPI
Inferred from Physical Interaction
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_034251.1 RefSeqGene

    Range
    5018..181073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005559.4NP_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:16268
    LamNT; Laminin N-terminal domain (domain VI)
    smart00281
    Location:12131344
    LamB; Laminin B domain
    smart00282
    Location:21412280
    LamG; Laminin G domain
    cd00055
    Location:848900
    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:23072463
    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 ...
    pfam00052
    Location:568696
    Laminin_B; Laminin B (Domain IV)
    pfam00053
    Location:902948
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:27432872
    Laminin_G_1; Laminin G domain
    pfam06008
    Location:15671830
    Laminin_I; Laminin Domain I
    pfam06009
    Location:20112145
    Laminin_II; Laminin Domain II
    cl12013
    Location:16091841
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    6941742..7117797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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