LIPID MAPS

LMPD ID

LMP012346

Gene ID

5354

Species

Homo sapiens (Human)

Gene Name

proteolipid protein 1

Gene Symbol

PLP1

Synonyms

PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20;

Chromosome

X

Map Location

Xq22

Summary

This 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]

Orthologs

View orthologs and multiple alignments for PLP1

myelin proteolipid protein isoform 1
Refseq ID	NP_001122306
Protein GI	192449447
UniProt ID	P60201
mRNA ID	NM_001128834
Length	277
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF

myelin proteolipid protein isoform 1
Refseq ID	NP_000524
Protein GI	41349499
UniProt ID	P60201
mRNA ID	NM_000533
Length	277
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
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF

Entrez Gene ID

5354

Gene Name

proteolipid protein 1

Gene Symbol

PLP1

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0016021	IEA:UniProtKB-KW	C	integral component of membrane
GO:0043209	IEA:Ensembl	C	myelin sheath
GO:0005886	IDA:UniProtKB	C	plasma membrane
GO:0019911	IEA:Ensembl	F	structural constituent of myelin sheath
GO:0005198	TAS:ProtInc	F	structural molecule activity
GO:0014002	IEA:Ensembl	P	astrocyte development
GO:0061564	IEA:Ensembl	P	axon development
GO:0008366	TAS:ProtInc	P	axon ensheathment
GO:0008219	IEA:UniProtKB-KW	P	cell death
GO:0048469	IEA:Ensembl	P	cell maturation
GO:0022010	IEA:Ensembl	P	central nervous system myelination
GO:0006954	IEA:Ensembl	P	inflammatory response
GO:0007229	IEA:Ensembl	P	integrin-mediated signaling pathway
GO:0042759	IEA:Ensembl	P	long-chain fatty acid biosynthetic process
GO:0010628	IEA:Ensembl	P	positive regulation of gene expression
GO:0021762	IEP:UniProt	P	substantia nigra development
GO:0007268	TAS:ProtInc	P	synaptic transmission

InterPro Annotations

Accession	Description
IPR001614	Myelin proteolipid protein PLP
IPR018237	Myelin proteolipid protein PLP, conserved site

Entry Information

Gene Name

proteolipid protein 1

UniProt ID

P60201

Species

Human

Comments

Comment Type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60201-1; Sequence=Displayed; Name=DM-20; IsoId=P60201-2; Sequence=VSP_003325;
Disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: A X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. {ECO:0000269\|PubMed:10417279, ECO:0000269\|PubMed:10425042, ECO:0000269\|PubMed:11093273, ECO:0000269\|PubMed:11786921, ECO:0000269\|PubMed:1376966, ECO:0000269\|PubMed:1384324, ECO:0000269\|PubMed:15712223, ECO:0000269\|PubMed:1707231, ECO:0000269\|PubMed:1708672, ECO:0000269\|PubMed:1715570, ECO:0000269\|PubMed:2479017, ECO:0000269\|PubMed:2480601, ECO:0000269\|PubMed:2773936, ECO:0000269\|PubMed:7531827, ECO:0000269\|PubMed:7539213, ECO:0000269\|PubMed:7541731, ECO:0000269\|PubMed:7573159, ECO:0000269\|PubMed:7679906, ECO:0000269\|PubMed:7683951, ECO:0000269\|PubMed:7684886, ECO:0000269\|PubMed:8037216, ECO:0000269\|PubMed:8909455, ECO:0000269\|PubMed:9008538, ECO:0000269\|PubMed:9143933, ECO:0000269\|PubMed:9482656, ECO:0000269\|PubMed:9633722, ECO:0000269\|PubMed:9747038, ECO:0000269\|PubMed:9788732, ECO:0000269\|PubMed:9894878, ECO:0000269\|PubMed:9934976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. {ECO:0000269\|PubMed:10319897, ECO:0000269\|PubMed:11093273, ECO:0000269\|PubMed:15450775, ECO:0000269\|PubMed:17438221, ECO:0000269\|PubMed:24103481, ECO:0000269\|PubMed:7522741, ECO:0000269\|PubMed:8012387, ECO:0000269\|PubMed:8780101, ECO:0000269\|PubMed:8956049, ECO:0000269\|PubMed:9489796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin.
Sequence Caution	Sequence=AAA60350.1; Type=Miscellaneous discrepancy; Note=The submitted sequence only contains the last exon but the authors annotated a CDS including all exons of that gene.; Evidence= ; Sequence=AAD13880.1; Type=Erroneous gene model prediction; Evidence= ;
Similarity	Belongs to the myelin proteolipid protein family
Subcellular Location	Cell membrane ; Multi-pass membrane protein Myelin membrane Note=Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat