LAMC1 laminin, gamma 1 (formerly LAMB2) [Homo sapiens] - Gene

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Summary

Official Symbol: LAMC1provided by HGNC
Official Full Name: laminin, gamma 1 (formerly LAMB2)provided by HGNC
Primary source: HGNC:6492
Locus tag: RP11-181K3.1
See related: Ensembl:ENSG00000135862; HPRD:01030; MIM:150290; Vega:OTTHUMG00000035418
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; MGC87297
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]

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Genomic context

Location :: 1q31

Sequence :: Chromosome: 1; NC_000001.10 (182992595..183114727)

See LAMC1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The nano-structure of the laminin gamma-1 short arm was determined. In solution, it adapts an extended conformation.
Title: Nano-structure of the laminin γ-1 short arm reveals an extended and curved multidomain assembly.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
Several LAMC1 single nucleotide polymorphisms exist with significant differences between African American and Caucasian women, but no association found between any LAMC1 variant and advanced pelvic organ prolapse.
Title: Is laminin gamma-1 a candidate gene for advanced pelvic organ prolapse?
laminin-111 (alpha(1), beta(1), gamma(1)), which is expressed during embryonic development but absent in normal or dystrophic skeletal muscle, increased alpha(7)-integrin expression in mouse and DMD patient myoblasts
Title: Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy.
Laminin isoforms containing the gamma3 chain are unable to bind to integrins due to the absence of the glutamic acid residue conserved in the C-terminal regions of the gamma1 and gamma2 chains
Title: Laminin isoforms containing the gamma3 chain are unable to bind to integrins due to the absence of the glutamic acid residue conserved in the C-terminal regions of the gamma1 and gamma2 chains.
In embryonic stem cells deficient in laminins, due to lamc1 (laminin gamma1) deletion, vascular development and organization were largely unaffected.
Title: Laminin deposition is dispensable for vasculogenesis but regulates blood vessel diameter independent of flow.
Observational study of gene-disease association. (HuGE Navigator)
Title: Is laminin gamma-1 a candidate gene for advanced pelvic organ prolapse?
gamma1 laminin is selectively overexpressed in reactive astrocytes of the amyotrophic lateral sclerosis spinal cord
Title: Selective overexpression of gamma1 laminin in astrocytes in amyotrophic lateral sclerosis indicates an involvement in ALS pathology.
Expression of LAMC1 in glioblastoma is inhibited by indomethacin. Indomethacin inhibits cyclooxygenases and is an NSAID drug.
Title: The cyclooxygenase inhibitor indomethacin modulates gene expression and represses the extracellular matrix protein laminin gamma1 in human glioblastoma cells.
Data suggest that laminin-10 (alpha5beta1gamma1) is required for hair follicle development and report the first use of exogenous protein to correct a cutaneous developmental defect.
Title: Laminin-10 is crucial for hair morphogenesis.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

?Pelvic organ prolapse, susceptibility to

MIM: 176780

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P11047	Activating transcription factor 7 interacting protein	ATF7IP	HPRD	PubMed
P11047	Q9Y3C0	CCDC53	HPRD	PubMed
P11047	O15230	LAMA5	HPRD	PubMed
P11047	P14543	NID1	HPRD	PubMed
P11047	Q14112	NID2	HPRD	PubMed
P11047	O95295	SNAPIN	HPRD	PubMed
BioGRID:110109	BioGRID:119225	CCDC53	BioGRID	PubMed	Two-hybrid
BioGRID:110109	BioGRID:114217	EIF3I	BioGRID	PubMed	Two-hybrid
BioGRID:110109	BioGRID:110106	LAMB1	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex
BioGRID:110109	BioGRID:201096	Lama1	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex
BioGRID:110109	BioGRID:122805	MLF1IP	BioGRID	PubMed	Two-hybrid
BioGRID:110109	BioGRID:110876	NID1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110109	BioGRID:116476	NID2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110109	BioGRID:201770	Nid1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110109	BioGRID:117101	SNAPIN	BioGRID	PubMed	Two-hybrid
BioGRID:110109	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
extracellular matrix structural constituent	IMP Inferred from Mutant Phenotype more info	PubMed
glycosphingolipid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
endoderm development	TAS Traceable Author Statement more info	PubMed
extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
hemidesmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
neuron projection development	IEA Inferred from Electronic Annotation more info
positive regulation of epithelial cell proliferation	TAS Traceable Author Statement more info	PubMed
protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
basal lamina	IEA Inferred from Electronic Annotation more info
basement membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
colocalizes_with extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	NAS Non-traceable Author Statement more info	PubMed
laminin-1 complex	NAS Non-traceable Author Statement more info	PubMed
laminin-1 complex	TAS Traceable Author Statement more info	PubMed
laminin-10 complex	TAS Traceable Author Statement more info	PubMed
laminin-11 complex	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: laminin subunit gamma-1

Names: laminin subunit gamma-1; S-LAM gamma; laminin B2 chain; S-laminin 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; laminin-10 subunit gamma; laminin-11 subunit gamma

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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

NG_011463.1 RefSeqGene

Range

5001..127133

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

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

Consensus CDS

CCDS1351.1

UniProtKB/Swiss-Prot

P11047

UniProtKB/TrEMBL

Q6NVY8

Related

ENSP00000258341, OTTHUMP00000033450, ENST00000258341, OTTHUMT00000085954

Conserved Domains (7) summary

cd00055
Location:934 – 981
Blast Score: 144

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 ...

cd00176
Location:1049 – 1254
Blast Score: 99

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

COG0419
Location:1071 – 1593
Blast Score: 186

SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]

smart00180
Location:935 – 980
Blast Score: 169

EGF_Lam; Laminin-type epidermal growth factor-like domai

cl02548
Location:558 – 688
Blast Score: 496

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:445 – 492
Blast Score: 163

Laminin_EGF; Laminin EGF-like (Domains III and V)

cl02806
Location:50 – 284
Blast Score: 890

Laminin_N; Laminin N-terminal (Domain VI)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

182992595..183114727

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

154228644..154350771

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354953.16	CAH70981.1
genomic	AL450304.33	CAI14877.1
genomic	CH471067.1	EAW91144.1
		EAW91145.1
genomic	M55210.1	AAA59492.1
mRNA	BC015586.2	AAH15586.2
mRNA	BC035429.1	None
mRNA	BC067813.1	AAH67813.1
mRNA	BF507385.1	None
mRNA	BI768612.1	None
mRNA	CF125114.1	None
mRNA	CN388644.1	None
mRNA	DA401791.1	None
mRNA	J03202.1	AAA59488.1
mRNA	M27654.1	AAA59489.1
mRNA	X13939.1	CAA32122.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P11047.3	GenPept	UniProtKB/Swiss-Prot:P11047
Q6NVY8	GenPept	UniProtKB/TrEMBL:Q6NVY8
Q96BH6	GenPept	UniProtKB/TrEMBL:Q96BH6