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PLS1 plastin 1 [ Homo sapiens (human) ]

Gene ID: 5357, updated on 10-May-2020

Summary

Official Symbol
PLS1provided by HGNC
Official Full Name
plastin 1provided by HGNC
Primary source
HGNC:HGNC:9090
See related
Ensembl:ENSG00000120756 MIM:602734
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

Genomic context

See PLS1 in Genome Data Viewer
Location:
3q23
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (142596393..142713664)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142315229..142432506)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374136 Neighboring gene RNA, 5S ribosomal pseudogene 143 Neighboring gene ribosomal protein L6 pseudogene 9 Neighboring gene RN7SK pseudogene 25 Neighboring gene transient receptor potential cation channel subfamily C member 1 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

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

Phenotypes

Associated conditions

Description Tests
DEAFNESS, AUTOSOMAL DOMINANT 76
MedGen: CN263293 OMIM: 618787 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145319.2NP_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
    Q14651
    Related
    ENSP00000387890.2, ENST00000457734.7
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  2. NM_001172312.1NP_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
    Q14651
    Related
    ENSP00000418700.1, ENST00000497002.1
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  3. NM_002670.3NP_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
    Q14651
    Related
    ENSP00000336831.3, ENST00000337777.7
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011512903.2XP_011511205.1  plastin-1 isoform X1

    See identical proteins and their annotated locations for XP_011511205.1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  2. XM_017006627.1XP_016862116.1  plastin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  3. XM_011512901.1XP_011511203.1  plastin-1 isoform X1

    See identical proteins and their annotated locations for XP_011511203.1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  4. XM_011512900.2XP_011511202.1  plastin-1 isoform X1

    See identical proteins and their annotated locations for XP_011511202.1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  5. XM_017006626.1XP_016862115.1  plastin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  6. XM_006713660.3XP_006713723.1  plastin-1 isoform X1

    See identical proteins and their annotated locations for XP_006713723.1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (1) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
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