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PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

Gene ID: 5354, updated on 3-Jun-2018
Official Symbol
PLP1provided by HGNC
Official Full Name
proteolipid protein 1provided by HGNC
Primary source
HGNC:HGNC:9086
See related
Ensembl:ENSG00000123560 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]
Expression
Restricted expression toward brain (RPKM 1259.3) See more
Orthologs
See PLP1 in Genome Data Viewer
Location:
Xq22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 glycine receptor alpha 4 Neighboring gene transmembrane protein 31 Neighboring gene uncharacterized LOC107985661 Neighboring gene RAB9B, member RAS oncogene family Neighboring gene RNA, 5S ribosomal pseudogene 511 Neighboring gene TMSB15B antisense RNA 1 Neighboring gene E74-like factor 2 pseudogene 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system myelination IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
myelination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
substantia nigra development HEP PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    ENSP00000484450.1, OTTHUMP00000276744, ENST00000621218.4, OTTHUMT00000057743
    Conserved Domains (1) summary
    pfam01275
    Location:5273
    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
    ENSP00000481006.1, ENST00000612423.4
    Conserved Domains (1) summary
    pfam01275
    Location:5273
    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
    pfam01275
    Location:2218
    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
    ENSP00000477619.1, OTTHUMP00000276745, ENST00000619236.1, OTTHUMT00000057744
    Conserved Domains (1) summary
    pfam01275
    Location:5238
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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