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Aliases for LAMA1 Gene

Aliases for LAMA1 Gene

  • Laminin Subunit Alpha 1 2 3 5
  • Laminin-3 Subunit Alpha 3 4
  • S-Laminin Subunit Alpha 3 4
  • Laminin, Alpha 1 2 3
  • Laminin A Chain 3 4
  • S-LAM Alpha 3 4
  • LAMA 3 4
  • Laminin Subunit Alpha-1 3
  • Laminin-1 Subunit Alpha 4
  • S-LAM-Alpha 3
  • PTBHS 3

External Ids for LAMA1 Gene

Previous HGNC Symbols for LAMA1 Gene

  • LAMA

Previous GeneCards Identifiers for LAMA1 Gene

  • GC18M006877
  • GC18M007006
  • GC18M006931
  • GC18M006905

Summaries for LAMA1 Gene

Entrez Gene Summary for LAMA1 Gene

  • This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]

GeneCards Summary for LAMA1 Gene

LAMA1 (Laminin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with LAMA1 include Poretti-Boltshauser Syndrome and Degenerative Myopia. Among its related pathways are Phospholipase-C Pathway and Syndecan-4-mediated signaling events. GO annotations related to this gene include receptor binding and glycosphingolipid binding. An important paralog of this gene is LAMA2.

UniProtKB/Swiss-Prot for LAMA1 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 LAMA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA1 Gene

Genomics for LAMA1 Gene

Regulatory Elements for LAMA1 Gene

Enhancers for LAMA1 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
GH18G007083 0.8 Ensembl ENCODE 15.3 +33.2 33168 1.7 ZNF316 USF2 NFE2L1 MAFG NFE2 EMSY NFE2L2 LAMA1 ENSG00000264475 GC18P007098
GH18G007157 0.5 ENCODE 21 -40.2 -40180 0.9 KLF16 BHLHE40 FOS KDM1A ZBTB40 LAMA1 SLC25A51P2 GC18P007187
GH18G007116 0.8 ENCODE 11.3 +0.1 138 1.4 CTCF MXI1 ZNF335 GLIS2 ZFHX2 ZBTB48 ZNF366 POLR2A EZH2 EGR2 LAMA1 GC18P007098
GH18G007115 0.7 ENCODE 10.1 +1.4 1358 1.0 MXI1 RBBP5 ZNF335 ZFHX2 ZNF366 ZBTB48 SMC3 ZNF416 EZH2 EGR2 LAMA1 GC18P007098
GH18G007037 1.1 Ensembl ENCODE 5.5 +79.6 79615 2.3 TBP RAD21 ZNF366 FOS ELK4 ZNF263 ZNF654 USF2 CEBPB REST LAMA1 ENSG00000264475 GC18M007015
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAMA1 on UCSC Golden Path with GeneCards custom track

Promoters for LAMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100268 314 1401 CTCF MXI1 RBBP5 ZNF335 GLIS2 ZFHX2 ZBTB48 ZNF366 POLR2A ZNF416

Genomic Location for LAMA1 Gene

Chromosome:
18
Start:
6,941,744 bp from pter
End:
7,117,814 bp from pter
Size:
176,071 bases
Orientation:
Minus strand

Genomic View for LAMA1 Gene

Genes around LAMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMA1 Gene

Proteins for LAMA1 Gene

  • Protein details for LAMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25391-LAMA1_HUMAN
    Recommended name:
    Laminin subunit alpha-1
    Protein Accession:
    P25391

    Protein attributes for LAMA1 Gene

    Size:
    3075 amino acids
    Molecular mass:
    337084 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. Alpha-1 is a subunit of laminin-1 (laminin-111 or EHS laminin) and laminin-3 (laminin-121 or S-laminin).

neXtProt entry for LAMA1 Gene

Post-translational modifications for LAMA1 Gene

  • Tyrosine phosphorylated by PKDCC/VLK.
  • Glycosylation at posLast=3838, isoforms=555, isoforms=665, posLast=763763, posLast=926926, isoforms=952, posLast=10451045, posLast=14071407, isoforms=1579, posLast=15961596, posLast=16781678, isoforms=1689, posLast=16981698, posLast=17171717, posLast=18041804, posLast=18941894, posLast=18981898, posLast=19571957, posLast=19741974, isoforms=1991, posLast=20382038, posLast=20472047, posLast=20942094, isoforms=2098, isoforms=2243, isoforms=2244, posLast=23842384, posLast=24082408, posLast=25182518, posLast=26192619, isoforms=2729, posLast=28522852, posLast=29152915, and posLast=29832983
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMA1 Gene

No data available for DME Specific Peptides for LAMA1 Gene

Domains & Families for LAMA1 Gene

Gene Families for LAMA1 Gene

Suggested Antigen Peptide Sequences for LAMA1 Gene

Graphical View of Domain Structure for InterPro Entry

P25391

UniProtKB/Swiss-Prot:

LAMA1_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, IV and G are globular.
genes like me logo Genes that share domains with LAMA1: view

Function for LAMA1 Gene

Molecular function for LAMA1 Gene

GENATLAS Biochemistry:
laminin,alpha 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.

Gene Ontology (GO) - Molecular Function for LAMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005201 extracellular matrix structural constituent ISS --
GO:0005515 protein binding IPI 17166913
GO:0008022 protein C-terminus binding IPI 16677310
genes like me logo Genes that share ontologies with LAMA1: view
genes like me logo Genes that share phenotypes with LAMA1: view

Human Phenotype Ontology for LAMA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMA1 Gene

MGI Knock Outs for LAMA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for LAMA1

miRNA for LAMA1 Gene

miRTarBase miRNAs that target LAMA1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMA1 Gene

Localization for LAMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.

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 LAMA1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LAMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix ISS --
GO:0005604 basement membrane IEA,IDA 2099832
GO:0005606 laminin-1 complex IPI 10964500
GO:0005608 laminin-3 complex IPI 10964500
genes like me logo Genes that share ontologies with LAMA1: view

Pathways & Interactions for LAMA1 Gene

genes like me logo Genes that share pathways with LAMA1: view

SIGNOR curated interactions for LAMA1 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007166 cell surface receptor signaling pathway ISS --
GO:0030155 regulation of cell adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030334 regulation of cell migration IEA --
genes like me logo Genes that share ontologies with LAMA1: view

Drugs & Compounds for LAMA1 Gene

(3) Drugs for LAMA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for LAMA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
151122-71-3
genes like me logo Genes that share compounds with LAMA1: view

Transcripts for LAMA1 Gene

Unigene Clusters for LAMA1 Gene

Laminin, alpha 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for LAMA1 Gene

GeneLoc Exon Structure for
LAMA1
ECgene alternative splicing isoforms for
LAMA1

Expression for LAMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAMA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMA1 Gene

This gene is overexpressed in Testis (x7.5).

Protein differential expression in normal tissues from HIPED for LAMA1 Gene

This gene is overexpressed in Amniocyte (33.8) and Ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAMA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LAMA1 Gene:

LAMA1

SOURCE GeneReport for Unigene cluster for LAMA1 Gene:

Hs.270364

Evidence on tissue expression from TISSUES for LAMA1 Gene

  • Gall bladder(5)
  • Intestine(4.6)
  • Lung(4.3)
  • Liver(4.1)
  • Pancreas(3.8)
  • Kidney(2.8)
  • Heart(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LAMA1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LAMA1 Gene

Orthologs for LAMA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMA1 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia LAMA1 34 35
  • 83.51 (n)
cow
(Bos Taurus)
Mammalia LAMA1 34 35
  • 80.86 (n)
mouse
(Mus musculus)
Mammalia Lama1 34 16 35
  • 78.64 (n)
rat
(Rattus norvegicus)
Mammalia Lama1 34
  • 78.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA1 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMA1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA1 34 35
  • 68.98 (n)
lizard
(Anolis carolinensis)
Reptilia LAMA1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lama1 34
  • 63.72 (n)
zebrafish
(Danio rerio)
Actinopterygii lama1 34 35
  • 58.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta wb 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-3 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for LAMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 LAMA1 Gene

ENSEMBL:
Gene Tree for LAMA1 (if available)
TreeFam:
Gene Tree for LAMA1 (if available)

Paralogs for LAMA1 Gene

Paralogs for LAMA1 Gene

(7) SIMAP similar genes for LAMA1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LAMA1: view

Variants for LAMA1 Gene

Sequence variations from dbSNP and Humsavar for LAMA1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs587777677 Pathogenic 7,050,692(+) TACCT(A/C)CCTCT splice-donor-variant
rs587777678 Pathogenic 6,956,768(+) AGTCT(-/AGGTAGAAACAAG)AGAGT intron-variant, nc-transcript-variant
rs587777679 Pathogenic 7,016,494(+) ACGTG(-/T)ACAGC reference, frameshift-variant
rs587777680 Pathogenic 7,016,663(+) CCATA(-/AT)AGCCA reference, frameshift-variant
rs587777681 Pathogenic 7,050,727(+) GAATA(A/C)TAGGA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for LAMA1 Gene

Variant ID Type Subtype PubMed ID
dgv195e215 CNV deletion 23714750
esv1010298 CNV loss 20482838
esv1060234 CNV deletion 17803354
esv1093980 CNV deletion 17803354
esv22796 CNV gain 19812545
esv2656232 CNV gain 23635498
esv2671013 CNV deletion 23128226
esv2716743 CNV deletion 23290073
esv2716744 CNV deletion 23290073
esv2716745 CNV deletion 23290073
esv2758711 CNV gain 17122850
esv3211778 CNV deletion 24192839
esv3584943 CNV gain 24956385
esv3641677 CNV gain 21293372
esv3641679 CNV gain 21293372
esv3641680 CNV gain 21293372
esv3641681 CNV gain 21293372
esv3641682 CNV gain 21293372
esv3893068 CNV gain 25118596
nsv1064175 CNV gain 25217958
nsv1064849 CNV gain 25217958
nsv1071427 CNV deletion 25765185
nsv1118230 CNV deletion 24896259
nsv1134693 CNV deletion 24896259
nsv1138598 CNV deletion 24896259
nsv475624 CNV novel sequence insertion 20440878
nsv477764 CNV novel sequence insertion 20440878
nsv526300 CNV loss 19592680
nsv576397 CNV gain 21841781
nsv7302 OTHER inversion 18451855
nsv833583 CNV gain 17160897

Variation tolerance for LAMA1 Gene

Residual Variation Intolerance Score: 91.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.42; 98.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMA1 Gene

Human Gene Mutation Database (HGMD)
LAMA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA1 Gene

Disorders for LAMA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAMA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
poretti-boltshauser syndrome
  • ptbhs
degenerative myopia
  • degenerative progressive high myopia
- elite association - COSMIC cancer census association via MalaCards
Search LAMA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMA1_HUMAN
  • Poretti-Boltshauser syndrome (PTBHS) [MIM:615960]: An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity. {ECO:0000269 PubMed:25105227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMA1

Genetic Association Database (GAD)
LAMA1
Human Genome Epidemiology (HuGE) Navigator
LAMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMA1
genes like me logo Genes that share disorders with LAMA1: view

No data available for Genatlas for LAMA1 Gene

Publications for LAMA1 Gene

  1. Molecular cloning of the cDNA encoding human laminin A chain. (PMID: 1714537) Haaparanta T. … Engvall E. (Matrix 1991) 3 4 22 64
  2. Primary structure of the human laminin A chain. Limited expression in human tissues. (PMID: 2049067) Nissinen M. … Tryggvason K. (Biochem. J. 1991) 3 4 22 64
  3. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (PMID: 25105227) Aldinger K.A. … Doherty D. (Am. J. Hum. Genet. 2014) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for LAMA1 Gene

Sources for LAMA1 Gene

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