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 ... See more...

Aliases for PLS1 Gene

Aliases for PLS1 Gene

  • Plastin 1 2 3 5
  • Plastin-1 3 4
  • Intestine Specific Plastin 3
  • Intestine-Specific Plastin 4
  • Plastin 1 (I Isoform) 2
  • I Plastin 3
  • I-Plastin 4
  • Fimbrin 3

External Ids for PLS1 Gene

Previous GeneCards Identifiers for PLS1 Gene

  • GC03P139303
  • GC03P143171
  • GC03P143623
  • GC03P143663
  • GC03P143825
  • GC03P142315
  • GC03P139687

Summaries for PLS1 Gene

Entrez Gene Summary for PLS1 Gene

  • 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]

GeneCards Summary for PLS1 Gene

PLS1 (Plastin 1) is a Protein Coding gene. Diseases associated with PLS1 include Hereditary Hearing Loss And Deafness and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is PLS3.

UniProtKB/Swiss-Prot Summary for PLS1 Gene

Additional gene information for PLS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLS1 Gene

Genomics for PLS1 Gene

GeneHancer (GH) Regulatory Elements for PLS1 Gene

Promoters and enhancers for PLS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J142576 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 -18.0 -17956 3.4 RXRA ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 ATR lnc-PLS1-1 PLS1 U2SURP GK5 XRN1 PBX2P1 YWHAQP6 ENSG00000244327 lnc-XRN1-4
GH03J142594 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 506.3 +0.4 431 3.8 EP300 ZNF217 TCF12 NRF1 MYC POLR2G SP1 BCLAF1 PHF8 JUND PLS1 XRN1 ATR U2SURP YWHAQP6 PBX2P1 PLS1-AS1 LOC105374136
GH03J142656 Promoter/Enhancer 0.8 EPDnew Ensembl 500.2 +60.5 60513 1 PBX2 SPI1 NR2F1 GLIS1 MEIS2 IKZF1 LOC105374136 PLS1-AS1 PLS1 XRN1 lnc-TRPC1-1 RN7SKP25
GH03J142623 Promoter 0.6 EPDnew 511.6 +27.0 27018 0.1 CEBPB GATA3 ATF3 PLS1 RNA5SP143 LOC105374136 PLS1-AS1
GH03J142997 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +404.4 404368 6.9 RXRA EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12 U2SURP ENSG00000268129 LOC100289361 XRN1 PBX2P1 ST13P15 PAQR9 PAQR9-AS1 TFDP2 ENSG00000243818
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLS1

Top Transcription factor binding sites by QIAGEN in the PLS1 gene promoter:
  • AP-1
  • AP-4
  • ATF-2
  • c-Jun
  • E47
  • FOXD3
  • IRF-2
  • RSRFC4
  • Tal-1beta

Genomic Locations for PLS1 Gene

Genomic Locations for PLS1 Gene
chr3:142,596,387-142,713,664
(GRCh38/hg38)
Size:
117,278 bases
Orientation:
Plus strand
chr3:142,315,229-142,432,506
(GRCh37/hg19)
Size:
117,278 bases
Orientation:
Plus strand

Genomic View for PLS1 Gene

Genes around PLS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLS1 Gene

Proteins for PLS1 Gene

  • Protein details for PLS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14651-PLSI_HUMAN
    Recommended name:
    Plastin-1
    Protein Accession:
    Q14651
    Secondary Accessions:
    • A8K2Q1
    • D3DNG3
    • Q8NEG6

    Protein attributes for PLS1 Gene

    Size:
    629 amino acids
    Molecular mass:
    70253 Da
    Quaternary structure:
    • Monomer.

neXtProt entry for PLS1 Gene

Post-translational modifications for PLS1 Gene

No data available for DME Specific Peptides for PLS1 Gene

Domains & Families for PLS1 Gene

Gene Families for PLS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLS1 Gene

Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLS1 Gene

GenScript: Design optimal peptide antigens:
  • Intestine-specific plastin (PLSI_HUMAN)
genes like me logo Genes that share domains with PLS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLS1 Gene

Function for PLS1 Gene

Molecular function for PLS1 Gene

UniProtKB/Swiss-Prot Function:
Actin-bundling protein in the absence of calcium.
GENATLAS Biochemistry:
plastin 1,I isoform,68kDa,actin binding protein,expressed in the brush border of small intestine and colon

Phenotypes From GWAS Catalog for PLS1 Gene

Gene Ontology (GO) - Molecular Function for PLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 8139549
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PLS1: view
genes like me logo Genes that share phenotypes with PLS1: view

Animal Models for PLS1 Gene

MGI Knock Outs for PLS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLS1

Clone Products

  • Addgene plasmids for PLS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLS1 Gene

Localization for PLS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLS1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005884 actin filament IBA 21873635
GO:0005903 brush border ISS --
GO:0032432 actin filament bundle IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PLS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLS1 Gene

Pathways & Interactions for PLS1 Gene

PathCards logo

SuperPathways for PLS1 Gene

SuperPathway Contained pathways
1 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
genes like me logo Genes that share pathways with PLS1: view

Pathways by source for PLS1 Gene

2 Qiagen pathways for PLS1 Gene
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics

Gene Ontology (GO) - Biological Process for PLS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001951 intestinal D-glucose absorption IEA --
GO:0032532 regulation of microvillus length IEA --
GO:0040018 positive regulation of multicellular organism growth IEA --
GO:0051017 actin filament bundle assembly IBA 21873635
GO:0051639 actin filament network formation IBA 21873635
genes like me logo Genes that share ontologies with PLS1: view

No data available for SIGNOR curated interactions for PLS1 Gene

Drugs & Compounds for PLS1 Gene

(1) Drugs for PLS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with PLS1: view

Transcripts for PLS1 Gene

mRNA/cDNA for PLS1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLS1

Clone Products

  • Addgene plasmids for PLS1

Alternative Splicing Database (ASD) splice patterns (SP) for PLS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - -
SP2:
SP3: - -
SP4: -

Relevant External Links for PLS1 Gene

GeneLoc Exon Structure for
PLS1

Expression for PLS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLS1 Gene

This gene is overexpressed in Colon - Transverse (x16.2) and Small Intestine - Terminal Ileum (x10.3).

Protein differential expression in normal tissues from HIPED for PLS1 Gene

This gene is overexpressed in Pancreatic juice (18.9), Cervix (8.6), Rectum (7.5), Islet of Langerhans (6.8), and Colon (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLS1

SOURCE GeneReport for Unigene cluster for PLS1 Gene:

Hs.203637

mRNA Expression by UniProt/SwissProt for PLS1 Gene:

Q14651-PLSI_HUMAN
Tissue specificity: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach.

Evidence on tissue expression from TISSUES for PLS1 Gene

  • Intestine(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with PLS1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLS1 Gene

Orthologs for PLS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLS1 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLS1 31 30
  • 93.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLS1 31 30
  • 93.22 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLS1 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pls1 17 31 30
  • 87.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLS1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLS1 31 30
  • 80.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLS1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pls1 30
  • 72.81 (n)
zebrafish
(Danio rerio)
Actinopterygii pls1 31 30
  • 68.37 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Fim 31 32
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y104H12BR.1 32
  • 56 (a)
plst-1 31
  • 51 (a)
ManyToMany
Y104H12BL.1 32
  • 51 (a)
Y73B3B.1 31 32
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC6 31
  • 38 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons FIM1 30
  • 51.55 (n)
rice
(Oryza sativa)
Liliopsida Os02g0719100 30
  • 50.51 (n)
Os.23544 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8022 31
  • 46 (a)
OneToMany
Species where no ortholog for PLS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLS1 Gene

ENSEMBL:
Gene Tree for PLS1 (if available)
TreeFam:
Gene Tree for PLS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLS1: view image

Paralogs for PLS1 Gene

Paralogs for PLS1 Gene

(4) SIMAP similar genes for PLS1 Gene using alignment to 8 proteins:

  • PLSI_HUMAN
  • C9J0F3_HUMAN
  • C9J359_HUMAN
  • C9JAM3_HUMAN
  • C9JAM8_HUMAN
  • C9JU08_HUMAN
  • C9JVY2_HUMAN
  • C9JYI1_HUMAN

Pseudogenes.org Pseudogenes for PLS1 Gene

genes like me logo Genes that share paralogs with PLS1: view

Variants for PLS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLS1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
632608 Uncertain Significance: Hereditary hearing loss and deafness 142,684,312(+) G/A MISSENSE_VARIANT
633603 Likely Pathogenic: Bilateral sensorineural hearing impairment; Autosomal dominant non-syndromic sensorineural deafness type DFNA 142,676,175(+) T/C MISSENSE_VARIANT
637056 Uncertain Significance: Hearing impairment 142,684,139(+) T/G MISSENSE_VARIANT
709077 Benign: not provided 142,689,660(+) G/A MISSENSE_VARIANT
770893 Benign: not provided 142,686,349(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PLS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLS1 Gene

Variant ID Type Subtype PubMed ID
dgv300n21 CNV gain 19592680
esv2564720 CNV deletion 19546169
nsv520533 CNV gain 19592680
nsv591920 CNV loss 21841781

Variation tolerance for PLS1 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.39; 63.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLS1 Gene

Disorders for PLS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PLS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary hearing loss and deafness
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
noonan syndrome 1
  • ns1
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards
Search PLS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLS1 Gene

Publications for PLS1 Gene

  1. Identification of I-plastin, a human fimbrin isoform expressed in intestine and kidney. (PMID: 8139549) Lin CS … Matsudaira P (Molecular and cellular biology 1994) 2 3 4 23 54
  2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X … Tai ES (PLoS genetics 2011) 3 41 54
  3. Characterization of interleukin 2 stimulated 65-kilodalton phosphoprotein in human T cells. (PMID: 2111166) Zu Y … Namba Y (Biochemistry 1990) 3 23 54
  4. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3 54
  5. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. (PMID: 30890647) Viita T … Vartiainen MK (Journal of cell science 2019) 3 54

Products for PLS1 Gene

Sources for PLS1 Gene