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PLP1 proteolipid protein 1 [ Homo sapiens (human) ]

Gene ID: 5354, updated on 8-Jul-2021

Summary

Official Symbol
PLP1provided by HGNC
Official Full Name
proteolipid protein 1provided by HGNC
Primary source
HGNC:HGNC:9086
See related
Ensembl:ENSG00000123560 MIM:300401
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
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Genomic context

See PLP1 in Genome Data Viewer
Location:
Xq22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (103776506..103792619)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103031434..103047548)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycine receptor alpha 4 (pseudogene) 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 H2B histone pseudogene 9

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

ClinGen Genome Curation PagePubMed
Triplosensitivity

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of integrin alphav-beta3 complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myelin proteolipid protein
Names
lipophilin
major myelin proteolipid protein

NCBI Reference Sequences (RefSeq)

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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_000533.5NP_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, ENST00000621218.5
    Conserved Domains (1) summary
    pfam01275
    Location:5273
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  2. NM_001128834.3NP_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_199478.3NP_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, ENST00000619236.1
    Conserved Domains (1) summary
    pfam01275
    Location:5238
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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