Human Gene LAMA5 (ENST00000252999.7_6) from GENCODE V47lift37
  Description: laminin subunit alpha 5 (from RefSeq NM_005560.6)
Gencode Transcript: ENST00000252999.7_6
Gencode Gene: ENSG00000130702.15_10
Transcript (Including UTRs)
   Position: hg19 chr20:60,884,121-60,942,368 Size: 58,248 Total Exon Count: 80 Strand: -
Coding Region
   Position: hg19 chr20:60,884,392-60,942,301 Size: 57,910 Coding Exon Count: 80 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:60,884,121-60,942,368)mRNA (may differ from genome)Protein (3695 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAMA5_HUMAN
DESCRIPTION: RecName: Full=Laminin subunit alpha-5; AltName: Full=Laminin-10 subunit alpha; AltName: Full=Laminin-11 subunit alpha; AltName: Full=Laminin-15 subunit 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-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
TISSUE SPECIFICITY: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no expression in brain and liver.
DOMAIN: Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin heterotrimer.
SIMILARITY: Contains 22 laminin EGF-like domains.
SIMILARITY: Contains 5 laminin G-like domains.
SIMILARITY: Contains 1 laminin IV type A domain.
SIMILARITY: Contains 1 laminin N-terminal domain.
SEQUENCE CAUTION: Sequence=CAC22310.1; Type=Erroneous gene model prediction;

-  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: LAMA5
Diseases sorted by gene-association score: galloway-mowat syndrome (14), pierson syndrome (8), alport syndrome (7), spina bifida occulta (6), adams-oliver syndrome (5)

-  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: 66.74 RPKM in Colon - Sigmoid
Total median expression: 1115.35 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 -36.6067-0.546 Picture PostScript Text
3' UTR -57.80271-0.213 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
IPR013032 - EGF-like_CS
IPR002049 - EGF_laminin
IPR018031 - Laminin_B_subgr
IPR000034 - Laminin_B_type_IV
IPR001791 - Laminin_G
IPR009254 - Laminin_I
IPR010307 - Laminin_II
IPR008211 - Laminin_N
IPR001368 - TNFR/NGFR_Cys_rich_reg

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
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on O15230
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 Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005178 integrin binding

Biological Process:
GO:0001525 angiogenesis
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001738 morphogenesis of a polarized epithelium
GO:0001755 neural crest cell migration
GO:0001942 hair follicle development
GO:0007010 cytoskeleton organization
GO:0007155 cell adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007517 muscle organ development
GO:0008037 cell recognition
GO:0008283 cell proliferation
GO:0009887 animal organ morphogenesis
GO:0016331 morphogenesis of embryonic epithelium
GO:0016477 cell migration
GO:0019221 cytokine-mediated signaling pathway
GO:0030154 cell differentiation
GO:0030155 regulation of cell adhesion
GO:0030198 extracellular matrix organization
GO:0030324 lung development
GO:0030334 regulation of cell migration
GO:0034446 substrate adhesion-dependent cell spreading
GO:0042127 regulation of cell proliferation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045446 endothelial cell differentiation
GO:0045995 regulation of embryonic development
GO:0048041 focal adhesion assembly
GO:0048754 branching morphogenesis of an epithelial tube
GO:0060271 cilium assembly
GO:0060445 branching involved in salivary gland morphogenesis
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005605 basal lamina
GO:0005610 laminin-5 complex
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0031012 extracellular matrix
GO:0043083 synaptic cleft
GO:0043259 laminin-10 complex
GO:0043260 laminin-11 complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC003355 - Homo sapiens laminin, alpha 5, mRNA (cDNA clone IMAGE:2900097), with apparent retained intron.
Z95636 - H.sapiens mRNA for laminin alpha 5 chain.
AK074307 - Homo sapiens cDNA FLJ23727 fis, clone HEP14228, highly similar to H.sapiens mRNA for laminin alpha 5 chain.
AB011105 - Homo sapiens mRNA for KIAA0533 protein, partial cds.
AF443072 - Homo sapiens laminin alpha5 chain precursor, mRNA, complete cds.
JD240428 - Sequence 221452 from Patent EP1572962.
JD075724 - Sequence 56748 from Patent EP1572962.
JD156284 - Sequence 137308 from Patent EP1572962.
JD200206 - Sequence 181230 from Patent EP1572962.
AB587309 - Synthetic construct DNA, clone: pF1KA0533, Homo sapiens LAMA5 gene for laminin, alpha 5, without stop codon, in Flexi system.
AB067494 - Homo sapiens mRNA for KIAA1907 protein, partial cds.
AB010099 - Homo sapiens mRNA for laminin alpha 5 chain, partial cds.
BC085017 - Homo sapiens laminin, alpha 5, mRNA (cDNA clone IMAGE:6651170), complete cds.
BC015386 - Homo sapiens laminin, alpha 5, mRNA (cDNA clone IMAGE:4393304), with apparent retained intron.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15230 (Reactome details) participates in the following event(s):

R-HSA-2533874 Laminin-511 degradation by MMP14
R-HSA-216048 Integrins alpha3beta1, alpha6beta4 bind laminin-332, 511, 521, (211, 221)
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-216058 Integrin alpha7beta1 binds Laminin-211, 221, 411, 512, 521
R-HSA-3907292 Integrin alpha6beta1 binds laminin-322, 512, 521, 211, 221, 411
R-HSA-4084505 Laminins bind HSPG2
R-HSA-2328129 Dystroglycan binds Laminins and Dystrophin
R-HSA-2396083 Laminins bind galactosyl sulfatide and related sulfated glycolipids
R-HSA-2426450 Laminins:Nidogens binds collagen type IV networks
R-HSA-2426530 Laminins:Nidogens binds HSPG2
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000252999.1, ENST00000252999.2, ENST00000252999.3, ENST00000252999.4, ENST00000252999.5, ENST00000252999.6, KIAA0533, KIAA1907, LAMA5_HUMAN, NM_005560, O15230, Q5U4N9, Q8TDF8, Q8WZA7, Q9H1P1, uc317fjo.1, uc317fjo.2
UCSC ID: ENST00000252999.7_6
RefSeq Accession: NM_005560.6
Protein: O15230 (aka LAMA5_HUMAN or LMA5_HUMAN)

-  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.