LMPD Database

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LMP012346

Record overview

LMPD IDLMP012346
Gene ID5354
SpeciesHomo sapiens (Human)
Gene Nameproteolipid protein 1
Gene SymbolPLP1
SynonymsPLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20;
ChromosomeX
Map LocationXq22
SummaryThis gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for PLP1

Proteins

myelin proteolipid protein isoform 1
Refseq ID:NP_001122306
Protein GI:192449447
UniProt ID:P60201
mRNA ID:NM_001128834
Length:277
RefSeq Status:
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQI
FGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSL
CADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF
 
myelin proteolipid protein isoform 1
Refseq ID:NP_000524
Protein GI:41349499
UniProt ID:P60201
mRNA ID:NM_000533
Length:277
RefSeq Status:
Protein sequence is identical to GI:192449447 (mRNA isoform)
 
myelin proteolipid protein isoform 2
Refseq ID:NP_955772
Protein GI:41349501
UniProt ID:P60201
mRNA ID:NM_199478
Length:242
RefSeq Status:
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQI
FGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQM
TFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF