PLP1 (proteolipid protein 1)

2016-10-01  

Identity

HGNC
PLP1
LOCATION
Xq22.2
LOCUSID
5354
ALIAS
GPM6C,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5354
MIM: 300401
HGNC: 9086
Ensembl: ENSG00000123560

Variants:

dbSNP: 5354
ClinVar: 5354
TCGA: ENSG00000123560
COSMIC: PLP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123560ENST00000422393B1B1G4
ENSG00000123560ENST00000433491B1B1G1
ENSG00000123560ENST00000434483B1B1G3
ENSG00000123560ENST00000443502B1B1G2
ENSG00000123560ENST00000455268B1B1G6
ENSG00000123560ENST00000494475B1B1G6
ENSG00000123560ENST00000612423P60201
ENSG00000123560ENST00000612423A8K9L3
ENSG00000123560ENST00000619236P60201
ENSG00000123560ENST00000619236A0A0S2Z4D4
ENSG00000123560ENST00000621218P60201
ENSG00000123560ENST00000621218A8K9L3

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
7000
8000
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
parathyroid 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
ovary
fallopian tube
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366221992023PLP1 gene mutations cause spastic paraplegia type 2 in three families.1
374755172023Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.1
366221992023PLP1 gene mutations cause spastic paraplegia type 2 in three families.1
374755172023Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.1
342309632021Identifying oligodendrocyte enhancers governing Plp1 expression.11
345068332021Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.3
342309632021Identifying oligodendrocyte enhancers governing Plp1 expression.11
345068332021Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.3
329737822020Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.10
329737822020Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.10
302427272019Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.4
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.3
302427272019Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.4
303376812019Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.3
292987332018Progressive striatonigral degeneration in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies.29

Citation

Dessen P

PLP1 (proteolipid protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56332