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PLS1 plastin 1 [ Homo sapiens (human) ]

Gene ID: 5357, updated on 3-Nov-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
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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 (74) 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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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)

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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