Gene Gene information from NCBI Gene database.
Entrez ID 5357
Gene name Plastin 1
Gene symbol PLS1
Synonyms (NCBI Gene)
DFNA76
Chromosome 3
Chromosome location 3q23
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 ge
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1560070780 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs1577876794 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1577888561 T>G Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs1577888985 G>A Uncertain-significance, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT020466 hsa-miR-106b-5p Microarray 17242205
MIRT020716 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT023752 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT029352 hsa-miR-26b-5p Microarray 19088304
MIRT050998 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001951 Process Intestinal D-glucose absorption IEA
GO:0003779 Function Actin binding IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 8139549
GO:0005509 Function Calcium ion binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602734 9090 ENSG00000120756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14651
Protein name Plastin-1 (Intestine-specific plastin) (I-plastin)
Protein function Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 3 43 EF-hand domain pair Domain
PF00036 EF-hand_1 55 83 EF hand Domain
PF00307 CH 122 239 Calponin homology (CH) domain Domain
PF00307 CH 266 377 Calponin homology (CH) domain Domain
PF00307 CH 395 505 Calponin homology (CH) domain Domain
PF00307 CH 516 626 Calponin homology (CH) domain Domain
Tissue specificity TISSUE SPECIFICITY: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach. {ECO:0000269|PubMed:8139549}.
Sequence
Sequence length 629
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing impairment Likely pathogenic rs1560070780 RCV001261780
Autosomal dominant nonsyndromic hearing loss Likely pathogenic rs1577876794 RCV000856828
Bilateral sensorineural hearing impairment Likely pathogenic rs1577876794 RCV000856828
Hearing impairment Likely pathogenic rs1560070780 RCV000754559
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2140436, rs3773506 RCV005915564
RCV005917275
Cervical cancer Benign rs77961515 RCV005918815
Cholangiocarcinoma Benign rs3773506, rs77961515 RCV005917280
RCV005918818
Gastric cancer Benign rs2140436, rs3773506 RCV005915565
RCV005917276
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hearing Loss Associate 30872814
Inflammation Associate 30872814
Intellectual Disability Associate 30872814
Lupus Erythematosus Systemic Associate 1522211
Mental Disorders Associate 30872814
Nonsyndromic Deafness Associate 30872814