PLS1 (plastin 1)

2003-06-01  

Identity

HGNC
PLS1
LOCATION
3q23
LOCUSID
5357
ALIAS
DFNA76
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5357
MIM: 602734
HGNC: 9090
Ensembl: ENSG00000120756

Variants:

dbSNP: 5357
ClinVar: 5357
TCGA: ENSG00000120756
COSMIC: PLS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120756ENST00000337777Q14651
ENSG00000120756ENST00000457734Q14651
ENSG00000120756ENST00000461644C9JVY2
ENSG00000120756ENST00000464320C9J0F3
ENSG00000120756ENST00000475296C9J359
ENSG00000120756ENST00000476044C9JAM8
ENSG00000120756ENST00000483373C9JYI1
ENSG00000120756ENST00000495744C9JU08
ENSG00000120756ENST00000497002Q14651
ENSG00000120756ENST00000497199C9JAM3

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
286940702017The Roles of Actin-Binding Domains 1 and 2 in the Calcium-Dependent Regulation of Actin Filament Bundling by Human Plastins.6
273042202016Thymic stromal lymphopoietin regulates eosinophil migration via phosphorylation of l-plastin in atopic dermatitis.3
308728142019Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.1
313975232019Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.1

Citation

Dessen P

PLS1 (plastin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41750/pls1