LAMC1 - laminin subunit gamma 1 Gene
Also Known as LAMB2
Species: Homo sapiens
About LAMC1
This gene has 6 transcripts (splice variants), 180 orthologues and 27 paralogues. Broad expression in placenta (RPKM 116.1), fat (RPKM 63.0) and 19 other tissues.
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]
LAMC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002293.4 | NP_002284.3 | laminin subunit gamma-1 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables extracellular matrix structural constituent |
IMP
IMP: Inferred from mutant phenotype
|
15159456 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in cell adhesion |
IDA
IDA: Inferred from direct assay
|
15159456 | GOA |
| involved in cell migration |
IMP
IMP: Inferred from mutant phenotype
|
15561105 | GOA |
| involved in extracellular matrix disassembly |
IMP
IMP: Inferred from mutant phenotype
|
15159456 | GOA |
| involved in hemidesmosome assembly |
IMP
IMP: Inferred from mutant phenotype
|
15159456 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
15159456 | GOA |
| involved in substrate adhesion-dependent cell spreading |
IDA
IDA: Inferred from direct assay
|
16236823 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in basement membrane |
IDA
IDA: Inferred from direct assay
|
14557481 | GOA |
LAMC1 Protein Structure
Laminin_N: Laminin N-terminal (Domain VI) (50 - 284)
Laminin_EGF: Laminin EGF domain (286 - 332)
Laminin_EGF: Laminin EGF domain (342 - 395)
Laminin_EGF: Laminin EGF domain (398 - 442)
Laminin_EGF: Laminin EGF domain (445 - 492)
Laminin_B: Laminin B (Domain IV) (558 - 688)
Laminin_EGF: Laminin EGF domain (724 - 770)
Laminin_EGF: Laminin EGF domain (773 - 816)
Laminin_EGF: Laminin EGF domain (828 - 881)
Laminin_EGF: Laminin EGF domain (884 - 932)
Laminin_EGF: Laminin EGF domain (935 - 980)
Laminin_EGF: Laminin EGF domain (983 - 1027)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1609 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
laminin subunit gamma-1 |
|
LAMC1 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P81510 | Laminin gamma 1 Antibody (YA1255) | IHC-P | Human |
| HY-P81510A | Laminin gamma 1 Antibody (YA1255)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Junctional Epidermolysis Bullosa |
|
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| Diffuse Mesangial Sclerosis |
|
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| Pelvic Organ Prolapse |
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| Lung Cancer |
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| Fuchs' Endothelial Dystrophy |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | LAMC1 | MGD | MGI:99914 |
| Canis familiaris | LAMC1 | VGNC | VGNC:42571 |
| Felis catus | LAMC1 | VGNC | VGNC:68011 |
| Rattus norvegicus | LAMC1 | RGD | RGD:621052 |
| Macaca mulatta | LAMC1 | VGNC | VGNC:74232 |
| Bos taurus | LAMC1 | VGNC | VGNC:50206 |
| Others | LAMC1 | NCBI |