PLS1
Plastin-1
Also known as: PLSI_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14651
- Gene
- PLS1
- Ensembl
- ENSG00000120756
- Chromosome
- 3
- Canonical length
- 629 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
629 residues, UniProt reviewed canonical sequence.
>Q14651|PLS1
1 MENSTTTISR EELEELQEAF NKIDIDNSGY VSDYELQDLF KEASLPLPGY KVREIVEKIL
61 SVADSNKDGK ISFEEFVSLM QELKSKDISK TFRKIINKRE GITAIGGTST ISSEGTQHSY
121 SEEEKVAFVN WINKALENDP DCKHLIPMNP NDDSLFKSLA DGILLCKMIN LSEPDTIDER
181 AINKKKLTPF TISENLNLAL NSASAIGCTV VNIGASDLKE GKPHLVLGLL WQIIKVGLFA
241 DIEISRNEAL IALLNEGEEL EELMKLSPEE LLLRWVNYHL TNAGWHTISN FSQDIKDSRA
301 YFHLLNQIAP KGGEDGPAIA IDLSGINETN DLKRAGLMLQ EADKLGCKQF VTPADVVSGN
361 PKLNLAFVAN LFNTYPCLHK PNNNDIDMNL LEGESKEERT FRNWMNSLGV NPYINHLYSD
421 LADALVIFQL YEMIRVPVNW SHVNKPPYPA LGGNMKKIEN CNYAVELGKN KAKFSLVGIA
481 GQDLNEGNST LTLALVWQLM RRYTLNVLSD LGEGEKVNDE IIIKWVNQTL KSANKKTSIS
541 SFKDKSISTS LPVLDLIDAI APNAVRQEMI RRENLSDEDK LNNAKYAISV ARKIGARIYA
601 LPDDLVEVKP KMVMTVFACL MGKGLNRIKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 297 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 297 nTPM
- duodenum: 180 nTPM
- colon: 135 nTPM
- rectum: 130 nTPM
- stomach: 43 nTPM
- gallbladder: 26 nTPM
Single-cell type
- enterocytes: 613 nCPM
- colonocytes: 477 nCPM
- goblet cells: 292 nCPM
- foveolar cells: 261 nCPM
- cone photoreceptor cells: 166 nCPM
- tuft cells: 161 nCPM
Immune cell
- NK-cell: 3 nTPM
- eosinophil: 2.6 nTPM
- naive CD8 T-cell: 2.5 nTPM
- naive CD4 T-cell: 2.2 nTPM
- memory CD8 T-cell: 2 nTPM
- MAIT T-cell: 1.9 nTPM
Brain region
- choroid plexus: 38 nTPM
- pons: 19 nTPM
- cerebellum: 16 nTPM
- cerebral cortex: 16 nTPM
- medulla oblongata: 15 nTPM
- basal ganglia: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLS1.
Disease | AllUniProt
Conditions PLS1 is implicated in, by any mechanism.
- Deafness, autosomal dominant, 76 (DFNA76) MIM:618787
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 162 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hearing loss, autosomal dominant 76
- Autosomal dominant nonsyndromic hearing loss
- Hearing impairment
- Autosomal dominant nonsyndromic hearing impairment
- Bilateral sensorineural hearing impairment
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.48
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament bundle assembly
- actin filament network formation
- auditory receptor cell stereocilium organization
- intestinal D-glucose absorption
- positive regulation of multicellular organism growth
- positive regulation of protein localization to plasma membrane
- regulation of microvillus length
- terminal web assembly
- vestibular receptor cell stereocilium organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLS1 as an antibody target. Whether an autoantibody or antibody against PLS1 could matter depends on whether native PLS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PLS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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