Human Gene LAMA1 (ENST00000389658.4_7) from GENCODE V47lift37
  Description: laminin subunit alpha 1 (from RefSeq NM_005559.4)
Gencode Transcript: ENST00000389658.4_7
Gencode Gene: ENSG00000101680.16_10
Transcript (Including UTRs)
   Position: hg19 chr18:6,941,741-7,117,796 Size: 176,056 Total Exon Count: 63 Strand: -
Coding Region
   Position: hg19 chr18:6,942,078-7,117,719 Size: 175,642 Coding Exon Count: 63 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:6,941,741-7,117,796)mRNA (may differ from genome)Protein (3075 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAMA1_HUMAN
DESCRIPTION: RecName: Full=Laminin subunit alpha-1; AltName: Full=Laminin A chain; AltName: Full=Laminin-1 subunit alpha; AltName: Full=Laminin-3 subunit alpha; AltName: Full=S-laminin subunit alpha; Short=S-LAM alpha; Flags: Precursor;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
DOMAIN: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
DOMAIN: Domains VI, IV and G are globular.
SIMILARITY: Contains 17 laminin EGF-like domains.
SIMILARITY: Contains 5 laminin G-like domains.
SIMILARITY: Contains 2 laminin IV type A domains.
SIMILARITY: Contains 1 laminin N-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LAMA1
Diseases sorted by gene-association score: poretti-boltshauser syndrome* (1390), myopia (8), degenerative myopia (6), apraxia (6), hutchinson-gilford progeria (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.56 RPKM in Testis
Total median expression: 42.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.4077-0.447 Picture PostScript Text
3' UTR -61.30337-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR002049 - EGF_laminin
IPR018031 - Laminin_B_subgr
IPR000034 - Laminin_B_type_IV
IPR001791 - Laminin_G
IPR009254 - Laminin_I
IPR010307 - Laminin_II
IPR008211 - Laminin_N

Pfam Domains:
PF00052 - Laminin B (Domain IV)
PF00053 - Laminin EGF domain
PF00054 - Laminin G domain
PF00055 - Laminin N-terminal (Domain VI)
PF02210 - Laminin G domain
PF06008 - Laminin Domain I
PF06009 - Laminin Domain II

SCOP Domains:
49785 - Galactose-binding domain-like
49899 - Concanavalin A-like lectins/glucanases
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on P25391
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0008022 protein C-terminus binding

Biological Process:
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0030155 regulation of cell adhesion
GO:0030198 extracellular matrix organization
GO:0030334 regulation of cell migration
GO:0045995 regulation of embryonic development

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005606 laminin-1 complex
GO:0005608 laminin-3 complex
GO:0005615 extracellular space
GO:0016020 membrane
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  BC032758 - Homo sapiens laminin, alpha 1, mRNA (cDNA clone IMAGE:3448097), with apparent retained intron.
BC062318 - Homo sapiens laminin, alpha 1, mRNA (cDNA clone IMAGE:4871734), partial cds.
BC039051 - Homo sapiens laminin, alpha 1, mRNA (cDNA clone IMAGE:3450863), partial cds.
BC016997 - Homo sapiens laminin, alpha 1, mRNA (cDNA clone IMAGE:4413963), with apparent retained intron.
AK093376 - Homo sapiens cDNA FLJ36057 fis, clone TESTI2018475, highly similar to LAMININ ALPHA-1 CHAIN PRECURSOR.
AX748086 - Sequence 1611 from Patent EP1308459.
AK091949 - Homo sapiens cDNA FLJ34630 fis, clone KIDNE2015546, highly similar to LAMININ ALPHA-1 CHAIN PRECURSOR.
BC107693 - Homo sapiens cDNA clone IMAGE:4308294, containing frame-shift errors.
BC144590 - Homo sapiens cDNA clone IMAGE:9053120.
BC172449 - Synthetic construct Homo sapiens clone IMAGE:100069143, MGC:199154 laminin, alpha 1 (LAMA1) mRNA, encodes complete protein.
X58531 - Human LAMA mRNA for laminin A chain, partial cds.
JD563244 - Sequence 544268 from Patent EP1572962.
JD063135 - Sequence 44159 from Patent EP1572962.
AF351616 - Homo sapiens UG0315G03 mRNA, complete cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prionPathway - Prion Pathway

Reactome (by CSHL, EBI, and GO)

Protein P25391 (Reactome details) participates in the following event(s):

R-HSA-216051 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1 bind laminin-111
R-HSA-443778 Interaction of L1 with Laminin-1
R-HSA-2328145 Laminin-111 binds collagen type IV
R-HSA-4084507 Laminin-111 binds endostatin dimer
R-HSA-2328129 Dystroglycan binds Laminins and Dystrophin
R-HSA-2396083 Laminins bind galactosyl sulfatide and related sulfated glycolipids
R-HSA-2327803 Laminins bind Nidogens 1, 2
R-HSA-2426355 NTN4 binds laminins with gamma-1, gamma-3
R-HSA-2396124 AGRN binds Laminins with gamma-1 subunit
R-HSA-4084505 Laminins bind HSPG2
R-HSA-2426450 Laminins:Nidogens binds collagen type IV networks
R-HSA-2426530 Laminins:Nidogens binds HSPG2
R-HSA-3000157 Laminin interactions
R-HSA-373760 L1CAM interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000389658.1, ENST00000389658.2, ENST00000389658.3, LAMA, LAMA1_HUMAN, NM_005559, P25391, uc318tgw.1, uc318tgw.2
UCSC ID: ENST00000389658.4_7
RefSeq Accession: NM_005559.4
Protein: P25391 (aka LAMA1_HUMAN or LMA1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene LAMA1:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.