Aliases for LAMA1 Gene
Aliases for LAMA1 Gene
External Ids for LAMA1 Gene
- HGNC: 6481
- Entrez Gene: 284217
- Ensembl: ENSG00000101680
- OMIM: 150320
- UniProtKB: P25391
Previous HGNC Symbols for LAMA1 Gene
- LAMA
Previous GeneCards Identifiers for LAMA1 Gene
- GC18M006877
- GC18M007006
- GC18M006931
- GC18M006905
Summaries 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.
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
Regulatory Element Products
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:
-
- 18p11.31 by Ensembl
- 18p11.31 by Entrez Gene
- 18p11.31 by HGNC
LAMA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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).
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for LAMA1
- R&D Systems Antibodies for LAMA1 (Laminin alpha 1)
- Novus Biologicals Antibodies for LAMA1
-
Cloud-Clone Corp. Antibodies for LAMA1
- Invitrogen Antibodies for LAMA1
- antibodies-online Antibodies for LAMA1: See all 62
- GeneTex LAMA1 antibody for LAMA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LAMA1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LAMA1
- Origene Custom Protein Services for LAMA1
-
Cloud-Clone Corp. Proteins for LAMA1
- antibodies-online Proteins for LAMA1: See all 13
- Search antibodies-online for peptides
- Search GeneTex for Proteins for LAMA1
Assay Products
- antibodies-online Kits for LAMA1: See all 6
No data available for DME Specific Peptides for LAMA1 Gene
Domains & Families for LAMA1 Gene
Gene Families for LAMA1 Gene
- HGNC:
Protein Domains for LAMA1 Gene
Suggested Antigen Peptide Sequences for LAMA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P25391UniProtKB/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.
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.
| 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 |
Phenotypes for LAMA1 Gene
- MGI mutant phenotypes for LAMA1:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for LAMA1:
Animal Models for LAMA1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for LAMA1
- Cyagen custom Knockout/knockin (KOKI) mouse models for LAMA1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for LAMA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMA1 gene
- Search ViGene Biosciences for LAMA1
CRISPR Products
-
OriGene CRISPR knockouts for LAMA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMA1
- GenScript: Design CRISPR guide RNA sequences for LAMA1
miRNA for LAMA1 Gene
- miRTarBase miRNAs that target LAMA1
miRNA Products
- Search ViGene Biosciences for LAMA1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMA1
- Browse OriGene Inhibitory RNA Products For LAMA1
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMA1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LAMA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for LAMA1
-
ViGene Biosciences adenoviral particle packaged cDNA for LAMA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for LAMA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMA1 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| lysosome | 1 |
| 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 |
Pathways & Interactions for LAMA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 2 | ERK Signaling |
.61
.58
|
.49
|
| 3 | MET promotes cell motility |
.45
|
|
| 4 | Focal Adhesion |
.62
|
.62
|
| 5 | Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview | ||
Pathways by source for LAMA1 Gene
5 BioSystems pathways for LAMA1 Gene
11 Reactome pathways for LAMA1 Gene
7 KEGG pathways for LAMA1 Gene
6 GeneGo (Thomson Reuters) pathways for LAMA1 Gene
2 R&D Systems pathways for LAMA1 Gene
14 Qiagen pathways for LAMA1 Gene
Interacting Proteins for LAMA1 Gene
Selected Interacting proteins:
ENSP00000374309
P25391-LAMA1_HUMAN
for LAMA1 Gene via
STRING
IID
UniProtKB
| 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 | -- |
Drugs & Compounds for LAMA1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/24:0) |
|
151122-71-3 |
|
Transcripts for LAMA1 Gene
mRNA/cDNA for LAMA1 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (97) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for LAMA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LAMA1
- GenScript: Design CRISPR guide RNA sequences for LAMA1
miRNA Products
- Search ViGene Biosciences for LAMA1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMA1
- Browse OriGene Inhibitory RNA Products For LAMA1
-
ViGene Biosciences ready-to-package AAV shRNAs for LAMA1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LAMA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| 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: | |||||||||||||||||||||||||||||||||||||||||||||||
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| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
Expression for LAMA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- S-shaped Body Cells S-shaped Body
- Angioblasts S-shaped Body
- Podocytes Podocyte Layer
- Renal Vesicle
- S-shaped Body
-
Tooth (Integumentary System)
- Dental Papilla Cells Dental Papilla
- Dentin
-
Trophoblast (Extraembryonic Tissues)
- Trophoblast Cells Trophoblast
- Mural Trophectoderm Cells Mural Trophectoderm
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Eye (Sensory Organs)
- Lens Vesicle Cells Lens Vesicle
-
Endothelium (Cardiovascular System)
- Angioblasts S-shaped Body
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
-
Heart (Cardiovascular System)
- Subepicardial Cells Epicardium
-
Epithelial Cells
- Podocytes Podocyte Layer
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
- Hypoblast (Extraembryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for LAMA1 Gene
This gene is overexpressed in Testis (x7.5).
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:
LAMA1SOURCE GeneReport for Unigene cluster for LAMA1 Gene:
Hs.270364Evidence 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
Primer Products
-
OriGene qPCR primer pairs for LAMA1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LAMA1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LAMA1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | LAMA1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Lama1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lama1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | LAMA1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LAMA1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LAMA1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LAMA1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lama1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lama1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | wb 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lam-3 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for LAMA1 Gene
Paralogs for LAMA1 Gene
(7) SIMAP similar genes for LAMA1 Gene using alignment to 5 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA1 Gene
Disorders for LAMA1 Gene
(2) MalaCards diseases for LAMA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| poretti-boltshauser syndrome |
|
|
| degenerative myopia |
|
|
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
No data available for Genatlas for LAMA1 Gene
Publications for LAMA1 Gene
- Molecular cloning of the cDNA encoding human laminin A chain. (PMID: 1714537) Haaparanta T. … Engvall E. (Matrix 1991) 3 4 22 64
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for LAMA1 (Laminin alpha 1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LAMA1
- Origene Custom Protein Services for LAMA1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for LAMA1
- Browse OriGene Inhibitory RNA Products For LAMA1
- OriGene qPCR primer pairs for LAMA1
- OriGene CRISPR knockouts for LAMA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For LAMA1
- GenScript: Next-day shipping cDNA ORF clone for LAMA1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for LAMA1
- GenScript Custom Assay Services for LAMA1
- GenScript Custom overexpressing Cell Line Services for LAMA1
- GenScript: Design CRISPR guide RNA sequences for LAMA1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for LAMA1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for LAMA1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for LAMA1
- Cloud-Clone Corp. Proteins for LAMA1
- Browse Assay Kits at Cloud-Clone Corp.
- Taconic Biosciences Mouse Models for LAMA1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for LAMA1: See all 62
- antibodies-online Kits for LAMA1: See all 6
- antibodies-online Proteins for LAMA1: See all 13
- Search antibodies-online for peptides
- GeneTex LAMA1 antibody for LAMA1
- Search GeneTex for Proteins for LAMA1
- ViGene Biosciences adenoviral particle packaged cDNA for LAMA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for LAMA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for LAMA1 gene
- Search ViGene Biosciences for LAMA1
- Santa Cruz Biotechnology (SCBT) Antibodies for LAMA1
- Search Santa Cruz Biotechnology (SCBT) for LAMA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LAMA1
- Horizon Cell Lines for LAMA1
- Cyagen custom Knockout/knockin (KOKI) mouse models for LAMA1
- VectorBuilder custom plasmid, inducible vectors for LAMA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LAMA1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for LAMA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
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- (128) Genetics Home Reference
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- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer