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Aliases for LAMC1 Gene

Aliases for LAMC1 Gene

  • Laminin Subunit Gamma 1 2 3 5
  • Laminin, Gamma 1 (Formerly LAMB2) 2 3
  • Laminin-10 Subunit Gamma 3 4
  • Laminin-11 Subunit Gamma 3 4
  • Laminin-2 Subunit Gamma 3 4
  • Laminin-3 Subunit Gamma 3 4
  • Laminin-4 Subunit Gamma 3 4
  • Laminin-6 Subunit Gamma 3 4
  • Laminin-7 Subunit Gamma 3 4
  • Laminin-8 Subunit Gamma 3 4
  • Laminin-9 Subunit Gamma 3 4
  • S-Laminin Subunit Gamma 3 4
  • Laminin B2 Chain 3 4
  • S-LAM Gamma 3 4
  • LAMB2 3 4
  • Laminin Subunit Gamma-1 3
  • Laminin-1 Subunit Gamma 4

External Ids for LAMC1 Gene

Previous HGNC Symbols for LAMC1 Gene

  • LAMB2

Previous GeneCards Identifiers for LAMC1 Gene

  • GC01P180518
  • GC01P178420
  • GC01P179512
  • GC01P180231
  • GC01P179724
  • GC01P181259
  • GC01P154228

Summaries for LAMC1 Gene

Entrez Gene Summary for LAMC1 Gene

  • 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]

GeneCards Summary for LAMC1 Gene

LAMC1 (Laminin Subunit Gamma 1) is a Protein Coding gene. Diseases associated with LAMC1 include Junctional Epidermolysis Bullosa Inversa and Anti-P200 Pemphigoid. Among its related pathways are ECM proteoglycans and miRNA targets in ECM and membrane receptors. GO annotations related to this gene include extracellular matrix structural constituent and glycosphingolipid binding. An important paralog of this gene is LAMC3.

UniProtKB/Swiss-Prot for LAMC1 Gene

  • Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Gene Wiki entry for LAMC1 Gene

Additional gene information for LAMC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMC1 Gene

Genomics for LAMC1 Gene

Regulatory Elements for LAMC1 Gene

Enhancers for LAMC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H183028 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +6.5 6456 2 FOXA2 MLX ARID4B DMAP1 BRCA1 SLC30A9 FOS ATF7 SP3 SP5 LAMC1-AS1 LAMC1 RNU6-41P
GH01H183469 1.5 ENCODE dbSUPER 18.5 +448.3 448349 4 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A DHX9 LAMC1-AS1 HMGN1P4 SMG7 LAMC1 SMG7-AS1 ENSG00000227554 KRT18P28 LOC100271717 RNA5SP71
GH01H182299 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -722.5 -722469 3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B YBX1 FEZF1 DMAP1 ZNF766 DHX9 HMGN1P4 LAMC1 GLUL RPL18P2 RNU6-152P EIF1P3 LINC01344 YPEL5P1
GH01H182288 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -732.5 -732527 5 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B FEZF1 YY1 ZNF766 MCM3 DHX9 LAMC1 RPL18P2 RNU6-152P GLUL HMGN1P4 LINC01344 YPEL5P1
GH01H183602 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +583.2 583241 8 HDGF PKNOX1 FOXA2 ATF1 ZNF133 YBX1 YY1 ZNF143 ZNF207 FOS NCF2 ARPC5 LAMC1 RGL1 APOBEC4 SMG7 GC01M183620
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAMC1 on UCSC Golden Path with GeneCards custom track

Promoters for LAMC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016778 740 4001 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for LAMC1 Gene

Chromosome:
1
Start:
183,023,460 bp from pter
End:
183,145,592 bp from pter
Size:
122,133 bases
Orientation:
Plus strand

Genomic View for LAMC1 Gene

Genes around LAMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMC1 Gene

Proteins for LAMC1 Gene

  • Protein details for LAMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11047-LAMC1_HUMAN
    Recommended name:
    Laminin subunit gamma-1
    Protein Accession:
    P11047
    Secondary Accessions:
    • Q5VYE7

    Protein attributes for LAMC1 Gene

    Size:
    1609 amino acids
    Molecular mass:
    177603 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-6 (laminin-311 or K-laminin), laminin-7 (laminin-321 or KS-laminin), laminin-8 (laminin-411), laminin-9 (laminin-421), laminin-10 (laminin-511) and laminin-11 (laminin-521).

neXtProt entry for LAMC1 Gene

Post-translational modifications for LAMC1 Gene

  • Glycosylation at isoforms=60, isoforms=134, posLast=576576, isoforms=650, isoforms=1022, isoforms=1107, isoforms=1161, posLast=11751175, posLast=12051205, isoforms=1223, isoforms=1241, posLast=13801380, posLast=13951395, posLast=14391439, and isoforms=1603
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for LAMC1 (Laminin gamma 1)

No data available for DME Specific Peptides for LAMC1 Gene

Domains & Families for LAMC1 Gene

Gene Families for LAMC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for LAMC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11047

UniProtKB/Swiss-Prot:

LAMC1_HUMAN :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • Domains VI and IV are globular.
genes like me logo Genes that share domains with LAMC1: view

Function for LAMC1 Gene

Molecular function for LAMC1 Gene

GENATLAS Biochemistry:
laminin,gamma 1 polypeptide,component of cutaneous basement membrane zone
UniProtKB/Swiss-Prot Function:
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Phenotypes From GWAS Catalog for LAMC1 Gene

Gene Ontology (GO) - Molecular Function for LAMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IMP 15159456
genes like me logo Genes that share ontologies with LAMC1: view
genes like me logo Genes that share phenotypes with LAMC1: view

Animal Models for LAMC1 Gene

MGI Knock Outs for LAMC1:

Animal Model Products

CRISPR Products

miRNA for LAMC1 Gene

miRTarBase miRNAs that target LAMC1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAMC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAMC1 Gene

Localization for LAMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMC1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMC1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA,IDA 14557481
GO:0005606 laminin-1 complex TAS,IEA 14557481
GO:0005615 extracellular space NAS 10964500
genes like me logo Genes that share ontologies with LAMC1: view

Pathways & Interactions for LAMC1 Gene

genes like me logo Genes that share pathways with LAMC1: view

Gene Ontology (GO) - Biological Process for LAMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 15159456
GO:0007155 cell adhesion IDA 15159456
GO:0007492 endoderm development TAS 9885251
GO:0016477 cell migration IMP 15561105
GO:0022617 extracellular matrix disassembly IMP 15159456
genes like me logo Genes that share ontologies with LAMC1: view

No data available for SIGNOR curated interactions for LAMC1 Gene

Drugs & Compounds for LAMC1 Gene

(2) Drugs for LAMC1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Laminin (925-933) Pharma Extracellular matrix glycoprotein 0

(1) Additional Compounds for LAMC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LAMC1 Gene

Compound Action Cas Number
Laminin (925-933) Extracellular matrix glycoprotein 110590-60-8
genes like me logo Genes that share compounds with LAMC1: view

Drug Products

Transcripts for LAMC1 Gene

Unigene Clusters for LAMC1 Gene

Laminin, gamma 1 (formerly LAMB2):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAMC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LAMC1 Gene

No ASD Table

Relevant External Links for LAMC1 Gene

GeneLoc Exon Structure for
LAMC1
ECgene alternative splicing isoforms for
LAMC1

Expression for LAMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAMC1 Gene

Protein differential expression in normal tissues from HIPED for LAMC1 Gene

This gene is overexpressed in Urinary Bladder (13.4), Gallbladder (10.9), and Adipocyte (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAMC1 Gene



Protein tissue co-expression partners for LAMC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAMC1 Gene:

LAMC1

SOURCE GeneReport for Unigene cluster for LAMC1 Gene:

Hs.609663

mRNA Expression by UniProt/SwissProt for LAMC1 Gene:

P11047-LAMC1_HUMAN
Tissue specificity: Found in the basement membranes (major component).

Evidence on tissue expression from TISSUES for LAMC1 Gene

  • Heart(4.8)
  • Liver(4.5)
  • Gall bladder(4.1)
  • Bone marrow(4)
  • Nervous system(3.6)
  • Intestine(3.5)
  • Lung(3.5)
  • Kidney(3.2)
  • Skin(2.8)
  • Adrenal gland(2.7)
  • Eye(2.6)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with LAMC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMC1 Gene

Orthologs for LAMC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMC1 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia LAMC1 33 34
  • 91.35 (n)
cow
(Bos Taurus)
Mammalia LAMC1 33 34
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMC1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMC1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamc1 33 16 34
  • 86.99 (n)
rat
(Rattus norvegicus)
Mammalia Lamc1 33
  • 86.39 (n)
chicken
(Gallus gallus)
Aves LAMC1 33 34
  • 76.24 (n)
lizard
(Anolis carolinensis)
Reptilia LAMC1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamc1 33
  • 70.93 (n)
Str.17820 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1922 33
zebrafish
(Danio rerio)
Actinopterygii lamc1 33 34
  • 68.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta LanB2 35 33 34
  • 51.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta LANB2 33
  • 50.42 (n)
worm
(Caenorhabditis elegans)
Secernentea lam-2 33 34
  • 49.71 (n)
C54D1.5 35
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5158 33
Species where no ortholog for LAMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMC1 Gene

ENSEMBL:
Gene Tree for LAMC1 (if available)
TreeFam:
Gene Tree for LAMC1 (if available)

Paralogs for LAMC1 Gene

Paralogs for LAMC1 Gene

(4) SIMAP similar genes for LAMC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LAMC1: view

Variants for LAMC1 Gene

Sequence variations from dbSNP and Humsavar for LAMC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs548688323 A colorectal cancer sample 183,130,410(+) TAGCC(A/G)TTTAC reference, missense
rs397515472 Uncertain significance 183,122,087(+) CAATA(C/T)GGCTG reference, missense
rs483352718 Uncertain significance 183,108,366(+) TCAAG(C/T)CCTAT reference, missense
rs1000000878 -- 183,089,634(+) TAACT(A/C)GAAAG intron-variant
rs1000017980 -- 183,130,717(+) ATGAA(A/G)CAGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LAMC1 Gene

Variant ID Type Subtype PubMed ID
dgv231n106 CNV deletion 24896259
nsv1113201 CNV deletion 24896259
nsv548358 CNV gain 21841781
nsv819917 CNV loss 19587683

Variation tolerance for LAMC1 Gene

Residual Variation Intolerance Score: 52.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.62; 72.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMC1 Gene

Human Gene Mutation Database (HGMD)
LAMC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMC1 Gene

Disorders for LAMC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LAMC1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
junctional epidermolysis bullosa inversa
  • jeb-i
anti-p200 pemphigoid
junctional epidermolysis bullosa
  • congenital junctional epidermolysis bullosa
diffuse mesangial sclerosis
  • diffuse isolated mesangial sclerosis
mayer-rokitansky-kuster-hauser syndrome
  • cauv
- elite association - COSMIC cancer census association via MalaCards
Search LAMC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LAMC1

Genetic Association Database (GAD)
LAMC1
Human Genome Epidemiology (HuGE) Navigator
LAMC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMC1
genes like me logo Genes that share disorders with LAMC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMC1 Gene

Publications for LAMC1 Gene

  1. Is laminin gamma-1 a candidate gene for advanced pelvic organ prolapse? (PMID: 20223449) Chen C … Matthews CA (American journal of obstetrics and gynecology 2010) 3 22 45 60
  2. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PMID: 15370542) Hayashi M … Allikmets R (Ophthalmic genetics 2004) 3 22 45 60
  3. Structure of the human laminin B2 chain gene reveals extensive divergence from the laminin B1 chain gene. (PMID: 1985895) Kallunki T … Tryggvason K (The Journal of biological chemistry 1991) 3 4 22 60
  4. Differences in human laminin B2 sequences. (PMID: 1806043) Santos CL … Brentani R (DNA sequence : the journal of DNA sequencing and mapping 1991) 3 4 22 60
  5. Isolation of a human laminin B2 (LAMB2) cDNA clone and assignment of the gene to chromosome region 1q25----q31. (PMID: 3234037) Fukushima Y … Shows TB (Cytogenetics and cell genetics 1988) 2 3 4 60

Products for LAMC1 Gene

Sources for LAMC1 Gene

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