LAMC3 laminin, gamma 3 [Homo sapiens] - Gene

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Summary

Official Symbol: LAMC3provided by HGNC
Official Full Name: laminin, gamma 3provided by HGNC
Primary source: HGNC:6494
Locus tag: RP11-143H20.1
See related: Ensembl:ENSG00000050555; HPRD:05069; MIM:604349; Vega:OTTHUMG00000020819
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: OCCM; DKFZp434E202
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 are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form 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 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]

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Genomic context

Location :: 9q31-q34

Sequence :: Chromosome: 9; NC_000009.11 (133884504..133968446)

See LAMC3 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 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?

Recessive LAMC3 mutations cause malformations of occipital cortical development.
Title: Recessive LAMC3 mutations cause malformations of occipital cortical development.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Cortical malformations, occipital

MIM: 614115

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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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Function	Evidence Code	Pubs
structural molecule activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
astrocyte development	IEA Inferred from Electronic Annotation more info
cell adhesion	IEA Inferred from Electronic Annotation more info
cell morphogenesis involved in differentiation	IEA Inferred from Electronic Annotation more info
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
basement membrane	IEA Inferred from Electronic Annotation more info
extracellular region	TAS Traceable Author Statement more info
membrane	TAS Traceable Author Statement more info	PubMed
proteinaceous extracellular matrix	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: laminin subunit gamma-3

Names: laminin subunit gamma-3; laminin-12 subunit gamma; laminin-14 subunit gamma; laminin-15 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_029800.1 RefSeqGene

Range

5001..88943

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006059.3 → NP_006050.3 laminin subunit gamma-3 precursor

Status: REVIEWED

Source sequence(s)

AB208887, AF041835, AK075536, AL157938, AL355872, AL551493, BX327938, R45355

Consensus CDS

CCDS6938.1

UniProtKB/TrEMBL

Q8N2D6

UniProtKB/Swiss-Prot

Q9Y6N6

Related

ENSP00000354360, OTTHUMP00000022393, ENST00000361069, OTTHUMT00000054717

Conserved Domains (5) summary

cd00055
Location:916 – 961
Blast Score: 138

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 ...

smart00180
Location:917 – 962
Blast Score: 157

EGF_Lam; Laminin-type epidermal growth factor-like domai

cl02548
Location:542 – 671
Blast Score: 186

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:430 – 477
Blast Score: 143

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

cl02806
Location:29 – 269
Blast Score: 742

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_000009.11 Reference GRCh37.p5 Primary Assembly

Range

133884504..133968446

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

103375168..103459104

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL157938.22 (1997..3115)	None
genomic	AL355872.15	CAI39528.1
		CAI39529.1
		CAX14981.1
genomic	AL355872.15	CAI39528.1
		CAI39529.1
		CAX14981.1
genomic	AL583807.20	CAH69983.1
		CAH69984.3
genomic	CH471090.1	EAW87954.1
		EAW87955.1
		EAW87956.1
		EAW87957.1
mRNA	AB208887.1	BAD92124.1
mRNA	AF041835.1	AAD36991.1
mRNA	AK075536.1	BAC11679.1
mRNA	AL133595.1	CAB63732.1
mRNA	AL551493.3	None
mRNA	BX327938.1	None
mRNA	R45355.1	None
other-genetic	BC156274.1	AAI56275.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q8N2D6	GenPept	UniProtKB/TrEMBL:Q8N2D6
Q9UF61	GenPept	UniProtKB/TrEMBL:Q9UF61
Q9Y6N6.3	GenPept	UniProtKB/Swiss-Prot:Q9Y6N6