PLS1 plastin 1 [Homo sapiens (human)] - Gene

Summary

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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Plastin 1 promotes osteoblast differentiation by regulating intracellular Ca2.
Title: Plastin 1 promotes osteoblast differentiation by regulating intracellular Ca2.
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.
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.
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.
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.
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.
upregulated in eosinophils from atopic dermatitis patients
Title: Thymic stromal lymphopoietin regulates eosinophil migration via phosphorylation of l-plastin in atopic dermatitis.
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.

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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 EBI GWAS CatalogPubMed
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120168 (e-PCR)
- UniSTS:132235

SHGC-12872 (e-PCR)
- UniSTS:24294

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 more info	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)

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
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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

142596393..142713664

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
XM_047448324.1 → XP_047304280.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
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
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
XM_047448321.1 → XP_047304277.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
XM_047448326.1 → XP_047304282.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
XM_047448328.1 → XP_047304284.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
XM_047448322.1 → XP_047304278.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
XM_047448327.1 → XP_047304283.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6
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
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
XM_047448325.1 → XP_047304281.1 plastin-1 isoform X1

UniProtKB/Swiss-Prot

A8K2Q1, D3DNG3, Q14651, Q8NEG6