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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-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 ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome. Among its related pathways are Degradation of the extracellular matrix and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. GO annotations related to this gene include receptor binding and glycosphingolipid binding. An important paralog of this gene is LAMC2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA1 Gene

Genomics for LAMA1 Gene

Regulatory Elements for LAMA1 Gene

Promoters for LAMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMA1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for LAMA1 Gene at MOPED

Post-translational modifications for LAMA1 Gene

  • Tyrosine phosphorylated by PKDCC/VLK.
  • Glycosylation at Asn 38, Asn 555, Asn 665, Asn 763, Asn 926, Asn 952, Asn 1045, Asn 1407, Asn 1579, Asn 1596, Asn 1678, Asn 1689, Asn 1698, Asn 1717, Asn 1804, Asn 1894, Asn 1898, Asn 1957, Asn 1974, Asn 1991, Asn 2038, Asn 2047, Asn 2094, Asn 2098, Asn 2243, Asn 2244, Asn 2384, Asn 2408, Asn 2518, Asn 2619, Asn 2729, Asn 2852, Asn 2915, and Asn 2983
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for LAMA1 (Laminin alpha 1)

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.
  • Contains 17 laminin EGF-like domains.
  • Contains 5 laminin G-like domains.
  • Contains 2 laminin IV type A domains.
  • Contains 1 laminin N-terminal domain.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for LAMA1 Gene COMPARTMENTS Subcellular localization image for LAMA1 gene
Compartment Confidence
extracellular 5
cytosol 2
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 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:0005606 laminin-1 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:0007411 axon guidance 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

mRNA/cDNA for LAMA1 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LAMA1 Gene

Laminin, alpha 1:
Representative Sequences:

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 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, MOPED, and MaxQB for LAMA1 Gene



SOURCE GeneReport for Unigene cluster for LAMA1 Gene Hs.270364

genes like me logo Genes that share expression patterns with LAMA1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 35
  • 99.25 (n)
  • 99.09 (a)
LAMA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMA1 36
  • 79 (a)
OneToOne
LAMA1 35
  • 80.86 (n)
  • 79.19 (a)
dog
(Canis familiaris)
Mammalia LAMA1 35
  • 83.51 (n)
  • 81.08 (a)
LAMA1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lama1 16
Lama1 35
  • 78.64 (n)
  • 76.5 (a)
Lama1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMA1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA1 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lama1 35
  • 78.64 (n)
  • 77.03 (a)
chicken
(Gallus gallus)
Aves LAMA1 35
  • 68.98 (n)
  • 66.08 (a)
LAMA1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMA1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lama1 35
  • 63.72 (n)
  • 60.94 (a)
zebrafish
(Danio rerio)
Actinopterygii lama1 36
  • 50 (a)
OneToOne
lama1 35
  • 58.14 (n)
  • 53.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta wb 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-3 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for LAMA1:
  • 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
rs9950267 - 7,043,336(+) TATTC(A/G)AACTT reference, missense
rs16951079 - 7,037,640(+) CATGA(C/T)CGCGG reference, missense
rs12961939 - 6,997,819(+) CAGAG(A/C)AAGAA reference, missense
rs596315 - 6,997,777(+) TGACA(A/C/G)AATTC reference, missense
rs11872364 - 6,995,359(+) TACCT(C/T)CTTTT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1009e1 CNV Complex 17122850
nsv833583 CNV Gain 17160897
nsv7302 OTHER Inversion 18451855
esv2716743 CNV Deletion 23290073
esv2716744 CNV Deletion 23290073
nsv909338 CNV Gain 21882294
nsv526300 CNV Loss 19592680
esv1010298 CNV Loss 20482838
esv2716745 CNV Deletion 23290073
esv1060234 CNV Deletion 17803354
nsv909339 CNV Gain 21882294
dgv3380n71 CNV Gain 21882294
dgv3381n71 CNV Gain 21882294
esv2671013 CNV Deletion 23128226
esv1093980 CNV Deletion 17803354
esv22796 CNV Gain 19812545

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

HapMap Linkage Disequilibrium report
LAMA1
Human Gene Mutation Database (HGMD)
LAMA1

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

Disorders for LAMA1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
poretti-boltshauser syndrome
  • ptbhs
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
lichtenstein-knorr syndrome
  • autosomal recessive spinocerebellar ataxia 19
myopia
  • near vision
- 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. Primary structure of the human laminin A chain. Limited expression in human tissues. (PMID: 2049067) Nissinen M. … Tryggvason K. (Biochem. J. 1991) 3 4 23 67
  2. The extracellular matrix proteins laminin and fibronectin contain binding domains for human plasminogen and tissue plasminogen activator. (PMID: 8360181) Moser T.L. … Stack M.S. (J. Biol. Chem. 1993) 3 23
  3. Molecular cloning of the cDNA encoding human laminin A chain. (PMID: 1714537) Haaparanta T. … Engvall E. (Matrix 1991) 3 23
  4. Distribution and isolation of four laminin variants; tissue restricted distribution of heterotrimers assembled from five different subunits. (PMID: 2099832) Engvall E. … Sanes J.R. (Cell Regul. 1990) 3 23
  5. Sulfatide-binding domain of the laminin A chain. (PMID: 2373692) Taraboletti G. … Roberts D.D. (J. Biol. Chem. 1990) 3 23

Products for LAMA1 Gene

Sources for LAMA1 Gene

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