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PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

Gene ID: 5354, updated on 8-May-2016
Official Symbol
PLP1provided by HGNC
Official Full Name
proteolipid protein 1provided by HGNC
Primary source
HGNC:HGNC:9086
See related
Ensembl:ENSG00000123560 HPRD:02321; MIM:300401; Vega:OTTHUMG00000022111
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
Summary
This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein 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 Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
Orthologs
Location:
Xq22
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (103776506..103792619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103031439..103047548)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 2 Neighboring gene MORF4L2 antisense RNA 1 Neighboring gene glycine receptor alpha 4 Neighboring gene transmembrane protein 31 Neighboring gene uncharacterized LOC101928286 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene RNA, 5S ribosomal pseudogene 511

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pelizaeus-Merzbacher disease
MedGen: C0205711 OMIM: 312080 GeneReviews: PLP1-Related Disorders
Compare labs
Spastic paraplegia 2
MedGen: C1839264 OMIM: 312920 GeneReviews: PLP1-Related Disorders
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Triplosensitivity

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of myelin sheath IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
astrocyte development IEA
Inferred from Electronic Annotation
more info
 
axon development IEA
Inferred from Electronic Annotation
more info
 
axon ensheathment TAS
Traceable Author Statement
more info
PubMed 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
central nervous system myelination IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
substantia nigra development IEP
Inferred from Expression Pattern
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
myelin proteolipid protein
Names
lipophilin
major myelin proteolipid protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008863.2 RefSeqGene

    Range
    4996..21109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000533.4NP_000524.3  myelin proteolipid protein isoform 1

    See identical proteins and their annotated locations for NP_000524.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as PLP) encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AK292728, BC095452, DA299940
    Consensus CDS
    CCDS14513.1
    UniProtKB/Swiss-Prot
    P60201
    UniProtKB/TrEMBL
    A8K9L3
    Related
    ENSP00000484450, OTTHUMP00000276744, ENST00000621218, OTTHUMT00000057743
    Conserved Domains (1) summary
    pfam01275
    Location:2277
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  2. NM_001128834.2NP_001122306.1  myelin proteolipid protein isoform 1

    See identical proteins and their annotated locations for NP_001122306.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AK292728, BC095452, DC342197
    Consensus CDS
    CCDS14513.1
    UniProtKB/Swiss-Prot
    P60201
    UniProtKB/TrEMBL
    A8K9L3
    Related
    ENSP00000481006, ENST00000612423
    Conserved Domains (1) summary
    pfam01275
    Location:2277
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  3. NM_001305004.1NP_001291933.1  myelin proteolipid protein isoform 3

    See identical proteins and their annotated locations for NP_001291933.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has a shorter 5' UTR and uses an alternate in-frame acceptor site compared to variant 1. It encodes a shorter isoform (3) than isoform 1.
    Source sequence(s)
    AK292728, AK295388, BC095452, DC342996
    UniProtKB/Swiss-Prot
    P60201
    UniProtKB/TrEMBL
    A8K9L3, B4DI30
    Conserved Domains (1) summary
    cl02417
    Location:1222
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  4. NM_199478.2NP_955772.1  myelin proteolipid protein isoform 2

    See identical proteins and their annotated locations for NP_955772.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as DM20) uses an alternate in-frame donor splice site compared to variant 1. It encodes a shorter isoform (2) than isoform 1.
    Source sequence(s)
    AK292728, BC095452, DA299940
    Consensus CDS
    CCDS14514.1
    UniProtKB/Swiss-Prot
    P60201
    UniProtKB/TrEMBL
    A0A0S2Z4D4, A8K9L3
    Related
    ENSP00000477619, OTTHUMP00000276745, ENST00000619236, OTTHUMT00000057744
    Conserved Domains (1) summary
    pfam01275
    Location:2242
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    103776506..103792619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    102924421..102940535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)