U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    LAMA4 laminin subunit alpha 4 [ Homo sapiens (human) ]

    Gene ID: 3910, updated on 3-Apr-2024

    Summary

    Official Symbol
    LAMA4provided by HGNC
    Official Full Name
    laminin subunit alpha 4provided by HGNC
    Primary source
    HGNC:HGNC:6484
    See related
    Ensembl:ENSG00000112769 MIM:600133; AllianceGenome:HGNC:6484
    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
    LAMA3; CMD1JJ; LAMA4*-1
    Summary
    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. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in fat (RPKM 48.0), endometrium (RPKM 32.2) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LAMA4 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (112107931..112254985, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (113291349..113438419, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (112429134..112575769, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:112408399-112408930 Neighboring gene tubulin epsilon 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:112421446-112422235 Neighboring gene family with sequence similarity 229 member B Neighboring gene MPRA-validated peak6040 silencer Neighboring gene MPRA-validated peak6041 silencer Neighboring gene uncharacterized LOC107986633 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24961 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:112519925-112520428 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:112520429-112520931 Neighboring gene RNA, U6 small nuclear 1226, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:112524438-112525637 Neighboring gene NANOG hESC enhancer GRCh37_chr6:112535822-112536323 Neighboring gene LAMA4 antisense RNA 1 Neighboring gene uncharacterized LOC107986632 Neighboring gene PIN2 (TERF1) interacting telomerase inhibitor 1 pseudogene

    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?

    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

    • DKFZp686D23145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    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
     

    General protein information

    Preferred Names
    laminin subunit alpha-4
    Names
    laminin alpha 4 chain
    laminin, alpha 4

    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_008209.1 RefSeqGene

      Range
      5001..151695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_433

    mRNA and Protein(s)

    1. NM_001105206.3NP_001098676.2  laminin subunit alpha-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001098676.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB210027, Z99289
      Consensus CDS
      CCDS43491.1
      UniProtKB/Swiss-Prot
      Q14731, Q14735, Q15335, Q16363, Q4LE44, Q5SZG8, Q9BTB8, Q9UE18, Q9UJN9
      UniProtKB/TrEMBL
      A0A0A0MQS9
      Related
      ENSP00000230538.7, ENST00000230538.12
      Conserved Domains (5) summary
      COG1196
      Location:407752
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00055
      Location:187238
      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:14921624
      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 ...
      pfam06008
      Location:298554
      Laminin_I; Laminin Domain I
      pfam06009
      Location:734861
      Laminin_II; Laminin Domain II
    2. NM_001105207.3NP_001098677.2  laminin subunit alpha-4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001098677.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in the 5' UTR and 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AB210027, BC066552, Z99289
      Consensus CDS
      CCDS34514.1
      UniProtKB/TrEMBL
      A0A0A0MTC7, Q5D044
      Related
      ENSP00000429488.1, ENST00000522006.5
      Conserved Domains (7) summary
      COG1340
      Location:419717
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00055
      Location:187238
      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:14851617
      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 ...
      pfam06008
      Location:289547
      Laminin_I; Laminin Domain I
      pfam06009
      Location:727854
      Laminin_II; Laminin Domain II
      cl02488
      Location:332524
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl09111
      Location:503602
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. NM_001105208.3NP_001098678.1  laminin subunit alpha-4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001098678.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform 3) with a shorter, distinct C-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (3).
      Source sequence(s)
      BC004241, BM014298, BP234809
      Consensus CDS
      CCDS43492.1
      UniProtKB/Swiss-Prot
      Q16363
      Related
      ENSP00000357627.4, ENST00000368638.5
    4. NM_001105209.3NP_001098679.1  laminin subunit alpha-4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001098679.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses alternate splice sites in the 5' UTR and coding region, compared to variant 1, resulting in a protein (isoform 3) with a shorter, distinct C-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (3).
      Source sequence(s)
      BC004241, BP234809
      Consensus CDS
      CCDS43492.1
      UniProtKB/Swiss-Prot
      Q16363
      Related
      ENSP00000398226.2, ENST00000453937.2
    5. NM_002290.5NP_002281.3  laminin subunit alpha-4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_002281.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AB210027, X91171, Z99289
      Consensus CDS
      CCDS34514.1
      UniProtKB/TrEMBL
      A0A0A0MTC7, Q5D044
      Related
      ENSP00000374114.4, ENST00000389463.9
      Conserved Domains (7) summary
      COG1340
      Location:419717
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00055
      Location:187238
      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:14851617
      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 ...
      pfam06008
      Location:289547
      Laminin_I; Laminin Domain I
      pfam06009
      Location:727854
      Laminin_II; Laminin Domain II
      cl02488
      Location:332524
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl09111
      Location:503602
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      112107931..112254985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418770.1XP_047274726.1  laminin subunit alpha-4 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MTC7
    2. XM_047418769.1XP_047274725.1  laminin subunit alpha-4 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MQS9
      Conserved Domains (5) summary
      COG1196
      Location:407752
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00055
      Location:187238
      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:14921624
      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 ...
      pfam06008
      Location:298554
      Laminin_I; Laminin Domain I
      pfam06009
      Location:734861
      Laminin_II; Laminin Domain II
    3. XM_017010854.3XP_016866343.1  laminin subunit alpha-4 isoform X2

      UniProtKB/TrEMBL
      A0A0A0MTC7, Q5D044
      Conserved Domains (7) summary
      COG1340
      Location:419717
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00055
      Location:187238
      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:14851617
      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 ...
      pfam06008
      Location:289547
      Laminin_I; Laminin Domain I
      pfam06009
      Location:727854
      Laminin_II; Laminin Domain II
      cl02488
      Location:332524
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl09111
      Location:503602
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. XM_005266984.5XP_005267041.2  laminin subunit alpha-4 isoform X1

      See identical proteins and their annotated locations for XP_005267041.2

      UniProtKB/Swiss-Prot
      Q14731, Q14735, Q15335, Q16363, Q4LE44, Q5SZG8, Q9BTB8, Q9UE18, Q9UJN9
      UniProtKB/TrEMBL
      A0A0A0MQS9
      Conserved Domains (5) summary
      COG1196
      Location:407752
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00055
      Location:187238
      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:14921624
      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 ...
      pfam06008
      Location:298554
      Laminin_I; Laminin Domain I
      pfam06009
      Location:734861
      Laminin_II; Laminin Domain II
    5. XM_005266983.5XP_005267040.2  laminin subunit alpha-4 isoform X1

      See identical proteins and their annotated locations for XP_005267040.2

      UniProtKB/Swiss-Prot
      Q14731, Q14735, Q15335, Q16363, Q4LE44, Q5SZG8, Q9BTB8, Q9UE18, Q9UJN9
      UniProtKB/TrEMBL
      A0A0A0MQS9
      Conserved Domains (5) summary
      COG1196
      Location:407752
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00055
      Location:187238
      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:14921624
      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 ...
      pfam06008
      Location:298554
      Laminin_I; Laminin Domain I
      pfam06009
      Location:734861
      Laminin_II; Laminin Domain II
    6. XM_047418771.1XP_047274727.1  laminin subunit alpha-4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      113291349..113438419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355422.1XP_054211397.1  laminin subunit alpha-4 isoform X2

    2. XM_054355420.1XP_054211395.1  laminin subunit alpha-4 isoform X1

    3. XM_054355421.1XP_054211396.1  laminin subunit alpha-4 isoform X2

    4. XM_054355419.1XP_054211394.1  laminin subunit alpha-4 isoform X1

    5. XM_054355418.1XP_054211393.1  laminin subunit alpha-4 isoform X1

    6. XM_054355423.1XP_054211398.1  laminin subunit alpha-4 isoform X3