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    LAMA5 laminin subunit alpha 5 [ Homo sapiens (human) ]

    Gene ID: 3911, updated on 4-Feb-2024

    Summary

    Official Symbol
    LAMA5provided by HGNC
    Official Full Name
    laminin subunit alpha 5provided by HGNC
    Primary source
    HGNC:HGNC:6485
    See related
    Ensembl:ENSG00000130702 MIM:601033; AllianceGenome:HGNC:6485
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBDS2; NPHS26
    Summary
    This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
    Expression
    Broad expression in skin (RPKM 18.3), placenta (RPKM 17.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LAMA5 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    81
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62309065..62367312, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64100010..64163029, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60884121..60942368, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60814402-60815326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60818849-60819457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60819458-60820065 Neighboring gene oxysterol binding protein like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60831784-60832284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60853989-60854489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60880842-60881345 Neighboring gene ADRM1 26S proteasome ubiquitin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13108 Neighboring gene Sharpr-MPRA regulatory region 11098 Neighboring gene uncharacterized LOC124904946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18197 Neighboring gene microRNA 4758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60929780-60930720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60930721-60931659 Neighboring gene LAMA5 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60935576-60936276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60936277-60936975 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60936976-60937675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60937676-60938374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60939075-60939774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60939775-60940474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60941173-60941872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60943971-60944670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60946071-60946768 Neighboring gene uncharacterized LOC105372708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60949451-60950054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60950055-60950656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60953065-60953666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60956340-60957020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:60961625-60962316 Neighboring gene RPS21 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bent bone dysplasia syndrome 2
    MedGen: C5774233 OMIM: 620076 GeneReviews: Not available
    Compare labs
    Nephrotic syndrome, IIa 26
    MedGen: C5774221 OMIM: 620049 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    EBI GWAS Catalog
    Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 inhibits CD3-triggered T cell co-stimulation by the extracellular matrix (ECM) proteins, which includes laminins PubMed
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed
    tat HIV-1 Tat upregulates the expression of extracellular matrix proteins, including the major basement membrane protein laminin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1907

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of a polarized epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of embryonic epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in trunk neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    laminin subunit alpha-5
    Names
    laminin alpha-5 chain
    laminin alpha5-chain
    laminin-10 subunit alpha
    laminin-11 subunit alpha
    laminin-15 subunit alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050626.2 RefSeqGene

      Range
      5000..63247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005560.6NP_005551.3  laminin subunit alpha-5 precursor

      See identical proteins and their annotated locations for NP_005551.3

      Status: REVIEWED

      Source sequence(s)
      AL354836
      Consensus CDS
      CCDS33502.1
      UniProtKB/Swiss-Prot
      O15230, Q5U4N9, Q8TDF8, Q8WZA7, Q9H1P1
      Related
      ENSP00000252999.3, ENST00000252999.7
      Conserved Domains (11) summary
      smart00180
      Location:20232067
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00282
      Location:27812908
      LamG; Laminin G domain
      cd00055
      Location:540583
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:33403497
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00052
      Location:16931818
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:15771625
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:54298
      Laminin_N; Laminin N-terminal (Domain VI)
      pfam04012
      Location:24352695
      PspA_IM30; PspA/IM30 family
      pfam06008
      Location:21882450
      Laminin_I; Laminin Domain I
      pfam06009
      Location:26412762
      Laminin_II; Laminin Domain II
      cd16172
      Location:22872578
      TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      62309065..62367312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440149.1XP_047296105.1  laminin subunit alpha-5 isoform X5

    2. XM_011528819.3XP_011527121.1  laminin subunit alpha-5 isoform X4

      Conserved Domains (11) summary
      smart00180
      Location:19321976
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00282
      Location:26902817
      LamG; Laminin G domain
      cd00055
      Location:540583
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:32543411
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00052
      Location:16021727
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:14861534
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:54298
      Laminin_N; Laminin N-terminal (Domain VI)
      pfam04012
      Location:23442604
      PspA_IM30; PspA/IM30 family
      pfam06008
      Location:20972359
      Laminin_I; Laminin Domain I
      pfam06009
      Location:25502671
      Laminin_II; Laminin Domain II
      cd16172
      Location:21962487
      TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
    3. XM_047440148.1XP_047296104.1  laminin subunit alpha-5 isoform X3

    4. XM_011528818.3XP_011527120.1  laminin subunit alpha-5 isoform X2

      Conserved Domains (11) summary
      smart00180
      Location:19772021
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00282
      Location:27352862
      LamG; Laminin G domain
      cd00055
      Location:540583
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:32993456
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00052
      Location:16471772
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:15311579
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:54298
      Laminin_N; Laminin N-terminal (Domain VI)
      pfam04012
      Location:23892649
      PspA_IM30; PspA/IM30 family
      pfam06008
      Location:21422404
      Laminin_I; Laminin Domain I
      pfam06009
      Location:25952716
      Laminin_II; Laminin Domain II
      cd16172
      Location:22412532
      TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
    5. XM_006723796.4XP_006723859.1  laminin subunit alpha-5 isoform X1

      Conserved Domains (11) summary
      smart00180
      Location:20232067
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      smart00282
      Location:27812908
      LamG; Laminin G domain
      cd00055
      Location:540583
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:33453502
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00052
      Location:16931818
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:15771625
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:54298
      Laminin_N; Laminin N-terminal (Domain VI)
      pfam04012
      Location:24352695
      PspA_IM30; PspA/IM30 family
      pfam06008
      Location:21882450
      Laminin_I; Laminin Domain I
      pfam06009
      Location:26412762
      Laminin_II; Laminin Domain II
      cd16172
      Location:22872578
      TorS_sensor_domain; sensor domain of the sensor histidine kinase TorS
    6. XM_047440150.1XP_047296106.1  laminin subunit alpha-5 isoform X6

    7. XM_006723798.4XP_006723861.1  laminin subunit alpha-5 isoform X7

      Conserved Domains (6) summary
      smart00180
      Location:20232065
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cd00055
      Location:540583
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      pfam00052
      Location:16931818
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:15771625
      Laminin_EGF; Laminin EGF domain
      pfam00055
      Location:54298
      Laminin_N; Laminin N-terminal (Domain VI)
      cl21504
      Location:21172145
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      64100010..64163029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323446.1XP_054179421.1  laminin subunit alpha-5 isoform X5

    2. XM_054323445.1XP_054179420.1  laminin subunit alpha-5 isoform X4

    3. XM_054323444.1XP_054179419.1  laminin subunit alpha-5 isoform X3

    4. XM_054323443.1XP_054179418.1  laminin subunit alpha-5 isoform X2

    5. XM_054323442.1XP_054179417.1  laminin subunit alpha-5 isoform X1

    6. XM_054323448.1XP_054179423.1  laminin subunit alpha-5 isoform X8

    7. XM_054323447.1XP_054179422.1  laminin subunit alpha-5 isoform X6

    8. XM_054323449.1XP_054179424.1  laminin subunit alpha-5 isoform X7