Format

Send to:

Choose Destination

PLS1 plastin 1 [ Homo sapiens (human) ]

Gene ID: 5357, updated on 23-Nov-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PLS1 in Genome Data Viewer
Location:
3q23
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (142596393..142713664)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142315235..142432506)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L6 pseudogene 9 Neighboring gene uncharacterized LOC105374136 Neighboring gene RNA, 5S ribosomal pseudogene 143 Neighboring gene RN7SK pseudogene 25 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

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
Deafness, autosomal dominant 76
MedGen: C5394080 OMIM: 618787 GeneReviews: Not available
not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
GeneReviews: Not available

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
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in actin filament network formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in actin filament bundle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in extracellular exosome HDA PubMed 
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

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

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.

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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  2. NM_001172312.2NP_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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  2. XM_017006627.1XP_016862116.1  plastin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  5. XM_017006626.1XP_016862115.1  plastin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q14651
    Conserved Domains (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
  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 (3) summary
    COG5069
    Location:13621
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd21323
    Location:100244
    CH_PLS1_rpt1; first calponin homology (CH) domain found in plastin-1
    cd21329
    Location:391508
    CH_PLS1_rpt3; third calponin homology (CH) domain found in plastin-1
Support Center