Proteolipid protein 1

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PLP1
Protein PLP1 PDB 2XPG.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PLP1, GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, proteolipid protein 1
External IDs OMIM: 300401 MGI: 97623 HomoloGene: 448 GeneCards: 5354
RNA expression pattern
PBB GE PLP1 210198 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_199478
NM_000533
NM_001128834
NM_001305004

NM_011123
NM_001290561
NM_001290562

RefSeq (protein)

NP_000524.3
NP_001122306.1
NP_001291933.1
NP_955772.1

NP_001277490.1
NP_001277491.1
NP_035253.1

Location (UCSC) Chr X: 103.77 – 103.79 Mb Chr X: 136.82 – 136.84 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus-Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.

This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system (CNS). The encoded protein functions in myelination. This protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations associated with this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Two transcript variants encoding distinct isoforms have been identified for this gene.[3]

In melanocytic cells PLP1 gene expression may be regulated by MITF.[4]

Interactions[edit]

Proteolipid protein 1 has been shown to interact with Myelin basic protein.[5][6]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)". 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  5. ^ Wood, D D; Vella G J; Moscarello M A (Oct 1984). "Interaction between human myelin basic protein and lipophilin". Neurochem. Res. UNITED STATES. 9 (10): 1523–31. doi:10.1007/BF00964678. ISSN 0364-3190. PMID 6083474. 
  6. ^ Edwards, A M; Ross N W; Ulmer J B; Braun P E (Jan 1989). "Interaction of myelin basic protein and proteolipid protein". J. Neurosci. Res. UNITED STATES. 22 (1): 97–102. doi:10.1002/jnr.490220113. ISSN 0360-4012. PMID 2467009. 

Further reading[edit]

External links[edit]