LAMC1 laminin subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMC1provided by HGNC
Official Full Name: laminin subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:6492
See related: Ensembl:ENSG00000135862 MIM:150290; AllianceGenome:HGNC:6492
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: LAMB2
Summary: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
Expression: Broad expression in placenta (RPKM 116.1), fat (RPKM 63.0) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (183023420..183145592)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (182382573..182504736)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (182992555..183114727)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circ_0124208 Promotes the Progression of Hepatocellular Carcinoma by Regulating the miR-338-3p/LAMC1 Axis.
Title: Circ_0124208 Promotes the Progression of Hepatocellular Carcinoma by Regulating the miR-338-3p/LAMC1 Axis.
NUDT21 alters glioma migration through differential alternative polyadenylation of LAMC1.
Title: NUDT21 alters glioma migration through differential alternative polyadenylation of LAMC1.
Hsa_circ_0005085 may suppress cutaneous squamous cell carcinoma growth and metastasis through targeting the miR-186-5p/LAMC1 axis.
Title: Hsa_circ_0005085 may suppress cutaneous squamous cell carcinoma growth and metastasis through targeting the miR-186-5p/LAMC1 axis.
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Title: Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity.
Title: Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity.
A Serological Biomarker of Laminin Gamma 1 Chain Degradation Reflects Altered Basement Membrane Remodeling in Crohn's Disease and DSS Colitis.
Title: A Serological Biomarker of Laminin Gamma 1 Chain Degradation Reflects Altered Basement Membrane Remodeling in Crohn's Disease and DSS Colitis.
LAMC1-mediated preadipocytes differentiation promoted peritoneum pre-metastatic niche formation and gastric cancer metastasis.
Title: LAMC1-mediated preadipocytes differentiation promoted peritoneum pre-metastatic niche formation and gastric cancer metastasis.
LAMC1 upregulation via TGFbeta induces inflammatory cancer-associated fibroblasts in esophageal squamous cell carcinoma via NF-kappaB-CXCL1-STAT3.
Title: LAMC1 upregulation via TGFβ induces inflammatory cancer-associated fibroblasts in esophageal squamous cell carcinoma via NF-κB-CXCL1-STAT3.
Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
Title: Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
A novel regQTL-SNP and the risk of lung cancer: a multi-dimensional study.
Title: A novel regQTL-SNP and the risk of lung cancer: a multi-dimensional study.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 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
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76013 (e-PCR)
- UniSTS:57877

SHGC-149351 (e-PCR)
- UniSTS:176953

GDB:197916 (e-PCR)
- UniSTS:156005

SHGC-75980 (e-PCR)
- UniSTS:17792

SHGC-148234 (e-PCR)
- UniSTS:176273

RH121047 (e-PCR)
- UniSTS:132268

WI-19021 (e-PCR)
- UniSTS:10194

D1S3330 (e-PCR)
- UniSTS:63478

SHGC-76019 (e-PCR)
- UniSTS:74490

D1S3536 (e-PCR)
- UniSTS:40700

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent	IMP Inferred from Mutant Phenotype more info	PubMed
enables extracellular matrix structural constituent	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoderm development	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemidesmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of epithelial cell proliferation	TAS 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-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of basement membrane organization	NAS Non-traceable Author Statement more info	PubMed
involved_in substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed

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
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of laminin-1 complex	NAS Non-traceable Author Statement more info	PubMed
part_of laminin-1 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-10 complex	TAS Traceable Author Statement more info	PubMed
part_of laminin-11 complex	TAS Traceable Author Statement 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 gamma-1

Names: S-LAM gamma; S-laminin subunit gamma; laminin B2 chain; laminin, gamma 1 (formerly LAMB2); laminin-10 subunit gamma; laminin-11 subunit gamma; laminin-2 subunit gamma; laminin-3 subunit gamma; laminin-4 subunit gamma; laminin-6 subunit gamma; laminin-7 subunit gamma; laminin-8 subunit gamma; laminin-9 subunit gamma

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_011463.1 RefSeqGene

Range

4961..127133

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002293.4 → NP_002284.3 laminin subunit gamma-1 precursor

See identical proteins and their annotated locations for NP_002284.3

Status: REVIEWED

Source sequence(s)

AL354953, AL450304, BC067813, BF507385, BI768612, CF125114, CN388644, DA401791, J03202

Consensus CDS

CCDS1351.1

UniProtKB/Swiss-Prot

P11047, Q5VYE7

Related

ENSP00000258341.3, ENST00000258341.5

Conserved Domains (11) summary

cl14654
Location:1180 → 1336

V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains

smart00397
Location:1072 → 1155

t_SNARE; Helical region found in SNAREs

smart00136
Location:44 → 284

LamNT; Laminin N-terminal domain (domain VI)

smart00180
Location:935 → 980

EGF_Lam; Laminin-type epidermal growth factor-like domai

smart00281
Location:553 → 678

LamB; Laminin B domain

smart00283
Location:1091 → 1302

MA; Methyl-accepting chemotaxis-like domains (chemotaxis sensory transducer)

cd00055
Location:724 → 771

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:445 → 492

Laminin_EGF; Laminin EGF domain

pfam05276
Location:1361 → 1592

SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

pfam06008
Location:1287 → 1530

Laminin_I; Laminin Domain I

cl23763
Location:1123 → 1255

MCP_signal; Methyl-accepting chemotaxis protein (MCP), signaling domain