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Gene id

3915

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LAMC1 Gene UCSC Ensembl

Aliases

LAMB2

Gene name

laminin subunit gamma 1

Alternate names

laminin subunit gamma-1, 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,

Gene location

1q25.3 (145859080: 145848521) Exons: 14 NC_000001.11

Gene summary(Entrez)

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]

OMIM

150290

Protein Summary

Protein general information

P11047

Name: Laminin subunit gamma-1 (Laminin B2 chain) (Laminin-1 subunit gamma) (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) (L

Length: 1609 Mass: 177,603

Tissue specificity: Found in the basement membranes (major component).

Sequence

MRGSHRAAPALRPRGRLWPVLAVLAAAAAAGCAQAAMDECTDEGGRPQRCMPEFVNAAFNVTVVATNTCGTPPEE
YCVQTGVTGVTKSCHLCDAGQPHLQHGAAFLTDYNNQADTTWWQSQTMLAGVQYPSSINLTLHLGKAFDITYVRL
KFHTSRPESFAIYKRTREDGPWIPYQYYSGSCENTYSKANRGFIRTGGDEQQALCTDEFSDISPLTGGNVAFSTL
EGRPSAYNFDNSPVLQEWVTATDIRVTLNRLNTFGDEVFNDPKVLKSYYYAISDFAVGGRCKCNGHASECMKNEF
DKLVCNCKHNTYGVDCEKCLPFFNDRPWRRATAESASECLPCDCNGRSQECYFDPELYRSTGHGGHCTNCQDNTD
GAHCERCRENFFRLGNNEACSSCHCSPVGSLSTQCDSYGRCSCKPGVMGDKCDRCQPGFHSLTEAGCRPCSCDPS
GSIDECNIETGRCVCKDNVEGFNCERCKPGFFNLESSNPRGCTPCFCFGHSSVCTNAVGYSVYSISSTFQIDEDG
WRAEQRDGSEASLEWSSERQDIAVISDSYFPRYFIAPAKFLGKQVLSYGQNLSFSFRVDRRDTRLSAEDLVLEGA
GLRVSVPLIAQGNSYPSETTVKYVFRLHEATDYPWRPALTPFEFQKLLNNLTSIKIRGTYSERSAGYLDDVTLAS
ARPGPGVPATWVESCTCPVGYGGQFCEMCLSGYRRETPNLGPYSPCVLCACNGHSETCDPETGVCNCRDNTAGPH
CEKCSDGYYGDSTAGTSSDCQPCPCPGGSSCAVVPKTKEVVCTNCPTGTTGKRCELCDDGYFGDPLGRNGPVRLC
RLCQCSDNIDPNAVGNCNRLTGECLKCIYNTAGFYCDRCKDGFFGNPLAPNPADKCKACNCNLYGTMKQQSSCNP
VTGQCECLPHVTGQDCGACDPGFYNLQSGQGCERCDCHALGSTNGQCDIRTGQCECQPGITGQHCERCEVNHFGF
GPEGCKPCDCHPEGSLSLQCKDDGRCECREGFVGNRCDQCEENYFYNRSWPGCQECPACYRLVKDKVADHRVKLQ
ELESLIANLGTGDEMVTDQAFEDRLKEAEREVMDLLREAQDVKDVDQNLMDRLQRVNNTLSSQISRLQNIRNTIE
ETGNLAEQARAHVENTERLIEIASRELEKAKVAAANVSVTQPESTGDPNNMTLLAEEARKLAERHKQEADDIVRV
AKTANDTSTEAYNLLLRTLAGENQTAFEIEELNRKYEQAKNISQDLEKQAARVHEEAKRAGDKAVEIYASVAQLS
PLDSETLENEANNIKMEAENLEQLIDQKLKDYEDLREDMRGKELEVKNLLEKGKTEQQTADQLLARADAAKALAE
EAAKKGRDTLQEANDILNNLKDFDRRVNDNKTAAEEALRKIPAINQTITEANEKTREAQQALGSAAADATEAKNK
AHEAERIASAVQKNATSTKAEAERTFAEVTDLDNEVNNMLKQLQEAEKELKRKQDDADQDMMMAGMASQAAQEAE
INARKAKNSVTSLLSIINDLLEQLGQLDTVDLNKLNEIEGTLNKAKDEMKVSDLDRKVSDLENEAKKQEAAIMDY
NRDIEEIMKDIRNLEDIRKTLPSGCFNTPSIEKP

Structural information

Protein Domains	Laminin (46-285) Laminin (286-341) Laminin (342-397) Laminin (398-444)
Interpro:	IPR000742 IPR002049 IPR000034 IPR008211 IPR038684
Prosite:	PS00022 PS01186 PS01248 PS50027 PS51115 PS51117
Pfam:	PF00052 PF00053 PF00055
PDB:	5XAU
PDBsum:	5XAU
MINT:
STRING:	ENSP00000258341;

Other Databases

GeneCards: LAMC1; Malacards: LAMC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005606	laminin-1 complex	NAS	cellular_component
GO:0005606	laminin-1 complex	TAS	cellular_component
GO:0005615	extracellular space	NAS	cellular_component
GO:0006461	protein complex assembly	IDA	biological_process
GO:0007155	cell adhesion	IDA	biological_process
GO:0007492	endoderm development	TAS	biological_process
GO:0016477	cell migration	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031581	hemidesmosome assembly	IMP	biological_process
GO:0034446	substrate adhesion-depend ent cell spreading	IDA	biological_process
GO:0043259	laminin-10 complex	TAS	cellular_component
GO:0043260	laminin-11 complex	TAS	cellular_component
GO:0050679	positive regulation of ep ithelial cell proliferati on	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	TAS	cellular_component
GO:0005606	laminin-1 complex	IEA	cellular_component
GO:0005606	laminin-1 complex	NAS	cellular_component
GO:0005606	laminin-1 complex	TAS	cellular_component
GO:0005615	extracellular space	NAS	cellular_component
GO:0006461	protein complex assembly	IDA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IDA	biological_process
GO:0007492	endoderm development	TAS	biological_process
GO:0016477	cell migration	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031581	hemidesmosome assembly	IMP	biological_process
GO:0034446	substrate adhesion-depend ent cell spreading	IDA	biological_process
GO:0043259	laminin-10 complex	TAS	cellular_component
GO:0043260	laminin-11 complex	TAS	cellular_component
GO:0050679	positive regulation of ep ithelial cell proliferati on	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	IDA	cellular_component
GO:0005604	basement membrane	TAS	cellular_component
GO:0005606	laminin-1 complex	NAS	cellular_component
GO:0005606	laminin-1 complex	TAS	cellular_component
GO:0005615	extracellular space	NAS	cellular_component
GO:0006461	protein complex assembly	IDA	biological_process
GO:0007155	cell adhesion	IDA	biological_process
GO:0007492	endoderm development	TAS	biological_process
GO:0016477	cell migration	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031581	hemidesmosome assembly	IMP	biological_process
GO:0034446	substrate adhesion-depend ent cell spreading	IDA	biological_process
GO:0043259	laminin-10 complex	TAS	cellular_component
GO:0043260	laminin-11 complex	TAS	cellular_component
GO:0050679	positive regulation of ep ithelial cell proliferati on	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component

KEGG pathways

hsa05145  Toxoplasmosis
hsa05146  Amoebiasis
hsa05165  Human papillomavirus infection
hsa05020  Prion diseases
hsa05222  Small cell lung cancer
hsa05200  Pathways in cancer
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway

Diseases

Associated diseases	References
Ovarian cancer	GAD20628624
Maculopathy	GAD15370542
Endometriosis	PubMed22767451

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22767451	Endometrio sis						Show abstract