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    PLS1 plastin 1 [ Homo sapiens (human) ]

    Gene ID: 5357, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PLS1provided by HGNC
    Official Full Name
    plastin 1provided by HGNC
    Primary source
    HGNC:HGNC:9090
    See related
    Ensembl:ENSG00000120756 MIM:602734; AllianceGenome:HGNC:9090
    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
    DFNA76
    Summary
    Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
    Expression
    Biased expression in small intestine (RPKM 111.8), duodenum (RPKM 68.2) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLS1 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (142596393..142713664)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (145343653..145460901)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142315235..142432506)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20645 Neighboring gene RNA, 5S ribosomal pseudogene 143 Neighboring gene ribosomal protein L6 pseudogene 9 Neighboring gene PLS1 antisense RNA 1 Neighboring gene RN7SK pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14790 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:142443428-142444294 Neighboring gene transient receptor potential cation channel subfamily C member 1 Neighboring gene Sharpr-MPRA regulatory region 6947 Neighboring gene RNA, U7 small nuclear 47 pseudogene Neighboring gene procollagen C-endopeptidase enhancer 2 Neighboring gene ribosomal protein L8 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Characterization of a 64-kd protein phosphorylated during chemotactic activation with IL-8 and fMLP of human polymorphonuclear leukocytes. II. Purification and amino acid analysis of phosphorylated 64-kd protein. Shibata M, et al. J Leukoc Biol, 1993 Jul. PMID 8336074
    2. Increased expression of L-plastin in nasal polyp of patients with nonsteroidal anti-inflammatory drug-exacerbated respiratory disease. Takabayashi T, et al. Allergy, 2019 Jul. PMID 30479022, Free PMC Article
    3. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Schrauwen I, et al. Eur J Hum Genet, 2019 Jun. PMID 30872814, Free PMC Article
    4. Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Morgan A, et al. Hum Mutat, 2019 Dec. PMID 31397523
    5. Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss. Diaz-Horta O, et al. Clin Genet, 2019 Dec. PMID 31432506

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. L-Plastin Promotes Gastric Cancer Growth and Metastasis in a Helicobacter pylori cagA-ERK-SP1-Dependent Manner.
      Title: L-Plastin Promotes Gastric Cancer Growth and Metastasis in a Helicobacter pylori cagA-ERK-SP1-Dependent Manner.
    2. L-plastin Ser5 phosphorylation is modulated by the PI3K/SGK pathway and promotes breast cancer cell invasiveness.
      Title: L-plastin Ser5 phosphorylation is modulated by the PI3K/SGK pathway and promotes breast cancer cell invasiveness.
    3. Plastin 1 promotes osteoblast differentiation by regulating intracellular Ca2.
      Title: Plastin 1 promotes osteoblast differentiation by regulating intracellular Ca2.
    4. Plastin 1 drives metastasis of colorectal cancer through the IQGAP1/Rac1/ERK pathway.
      Title: Plastin 1 drives metastasis of colorectal cancer through the IQGAP1/Rac1/ERK pathway.
    5. Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
      Title: Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
    6. Increased expression of L-plastin by eosinophils may contribute to abnormal fibrin deposition through TF translocation to the eosinophil cell surface in NERD nasal polyp tissue, which in turn may contribute to the pathogenesis of NERD.
      Title: Increased expression of L-plastin in nasal polyp of patients with nonsteroidal anti-inflammatory drug-exacerbated respiratory disease.
    7. a diverse genetic hearing impairment (HI) etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI.
      Title: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
    8. Findings identified missense variants in PLS1 gene in three unrelated autosomal dominant nonsyndromic hearing loss (NSHL) families. In silico protein modeling suggests that all variants destabilize the structure of the actin-binding domain 1. These results clearly support that PLS1 is required for normal hearing and is a novel gene for autosomal dominant HL.
      Title: Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
    9. upregulated in eosinophils from atopic dermatitis patients
      Title: Thymic stromal lymphopoietin regulates eosinophil migration via phosphorylation of l-plastin in atopic dermatitis.
    10. In this study, the authors found that the actin filament bundling abilities of PLS1 and PLS2 were similarly sensitive to Ca(2+) (pCa50 ~6.4), whereas PLS3 was less sensitive (pCa50 ~5.9).
      Title: The Roles of Actin-Binding Domains 1 and 2 in the Calcium-Dependent Regulation of Actin Filament Bundling by Human Plastins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hearing loss, autosomal dominant 76
    MedGen: C5394080 OMIM: 618787 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with plastin 1 (PLS1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament network formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intestinal D-glucose absorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of microvillus length IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in terminal web assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vestibular receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in actin filament bundle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in brush border ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in terminal web IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    plastin-1
    Names
    I plastin
    fimbrin
    intestine specific plastin

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001145319.2 → NP_001138791.1  plastin-1

      See identical proteins and their annotated locations for NP_001138791.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA933088, AK290316, BM263745, DA427212, L20826
      Consensus CDS
      CCDS3125.1
      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Related
      ENSP00000387890.2, ENST00000457734.7
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    2. NM_001172312.2 → NP_001165783.1  plastin-1

      See identical proteins and their annotated locations for NP_001165783.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal non-coding exon, thus has a different 5' UTR compared to variant 1. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC072028, BC031083, CB240816
      Consensus CDS
      CCDS3125.1
      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Related
      ENSP00000418700.1, ENST00000497002.1
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    3. NM_002670.3 → NP_002661.2  plastin-1

      See identical proteins and their annotated locations for NP_002661.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal non-coding exon, thus has a different 5' UTR compared to variant 1. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA933088, AK290316, BM263745, BP262012, L20826
      Consensus CDS
      CCDS3125.1
      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Related
      ENSP00000336831.3, ENST00000337777.7
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      142596393..142713664
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512903.3 → XP_011511205.1  plastin-1 isoform X1

      See identical proteins and their annotated locations for XP_011511205.1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    2. XM_047448323.1 → XP_047304279.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    3. XM_047448324.1 → XP_047304280.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    4. XM_011512901.2 → XP_011511203.1  plastin-1 isoform X1

      See identical proteins and their annotated locations for XP_011511203.1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    5. XM_017006627.2 → XP_016862116.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    6. XM_047448321.1 → XP_047304277.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    7. XM_047448326.1 → XP_047304282.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    8. XM_047448328.1 → XP_047304284.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    9. XM_047448322.1 → XP_047304278.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    10. XM_047448327.1 → XP_047304283.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    11. XM_011512900.3 → XP_011511202.1  plastin-1 isoform X1

      See identical proteins and their annotated locations for XP_011511202.1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    12. XM_006713660.4 → XP_006713723.1  plastin-1 isoform X1

      See identical proteins and their annotated locations for XP_006713723.1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
      Conserved Domains (3) summary
      COG5069
      Location:13 → 621
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd21323
      Location:100 → 244
      CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
      cd21329
      Location:391 → 508
      CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

    13. XM_047448325.1 → XP_047304281.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      145343653..145460901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346878.1 → XP_054202853.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    2. XM_054346876.1 → XP_054202851.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    3. XM_054346877.1 → XP_054202852.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    4. XM_054346871.1 → XP_054202846.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    5. XM_054346873.1 → XP_054202848.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    6. XM_054346872.1 → XP_054202847.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    7. XM_054346880.1 → XP_054202855.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    8. XM_054346882.1 → XP_054202857.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    9. XM_054346874.1 → XP_054202849.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    10. XM_054346881.1 → XP_054202856.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    11. XM_054346875.1 → XP_054202850.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    12. XM_054346879.1 → XP_054202854.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6

    13. XM_054346883.1 → XP_054202858.1  plastin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2Q1, D3DNG3, Q14651, Q8NEG6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14651.2 GenPept UniProtKB/Swiss-Prot:Q14651

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