PLP1 (proteolipid protein 1)

2016-10-01  

Identity

HGNC
LOCATION
Xq22.2
LOCUSID
ALIAS
GPM6C,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150096772004Gene expression profile of the nucleus accumbens of human cocaine abusers: evidence for dysregulation of myelin.81
156272022005PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.65
122979852002Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.55
163748292006Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.33
167749742006Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.32
179624152007A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.32
163809092005Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.30
257490762015Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.25
192442362009Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs.21
259300752015Oligodendrocyte morphometry and expression of myelin - Related mRNA in ventral prefrontal white matter in major depressive disorder.21

Citation

Dessen P

PLP1 (proteolipid protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56332/plp1