Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5354
Gene name Gene Name - the full gene name approved by the HGNC.
Proteolipid protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLP1
Synonyms (NCBI Gene) Gene synonyms aliases
GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 axona
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT545028 hsa-miR-5011-5p PAR-CLIP 21572407
MIRT545029 hsa-miR-586 PAR-CLIP 21572407
MIRT545027 hsa-miR-511-3p PAR-CLIP 21572407
MIRT551510 hsa-miR-130b-5p PAR-CLIP 21572407
MIRT545026 hsa-miR-567 PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity TAS 2479017
GO:0005515 Function Protein binding IPI 25416956, 25910212, 26871637, 26960425, 32296183, 32814053, 35217805
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 24103481
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300401 9086 ENSG00000123560
Protein
UniProt ID P60201
Protein name Myelin proteolipid protein (PLP) (Lipophilin)
Protein 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.
PDB 2XPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01275 Myelin_PLP 3 273 Myelin proteolipid protein (PLP or lipophilin) Family
Sequence
Sequence length 277
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 2 rs132630291, rs1556267287, rs786205605, rs1135401759, rs1602385672, rs132630292, rs797045064, rs1556273167, rs864622194, rs1602384101, rs878853076, rs1602373055, rs132630294, rs886039537, rs132630288
View all (6 more)
N/A
Pelizaeus-Merzbacher disease pelizaeus-merzbacher disease, Pelizaeus-Merzbacher disease, connatal rs1602383261, rs398123467, rs132630280, rs1060500909, rs132630291, rs1602383268, rs132630281, rs1556270312, rs797045064, rs132630282, rs1556267215, rs1569427311, rs132630284, rs1569427275, rs132630292
View all (22 more)
N/A
Hypomyelinating Leukodystrophy pelizaeus-merzbacher disease, atypical rs132630292 N/A
Mental retardation intellectual disability rs1556270312 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Inhibit 18708408
Alcohol Related Disorders Associate 21679407
Cerebral Palsy Associate 18437021
Chromosome Duplication Associate 31951325
Cognition Disorders Associate 36622199
Colorectal Neoplasms Inhibit 19661077
Colorectal Neoplasms Associate 32797167
COVID 19 Associate 17392370
Demyelinating Diseases Associate 12297985, 14681886, 17962415, 19562355, 2479017, 27179222, 38104430, 38219302
Developmental Disabilities Associate 31448840