Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5354
Gene name	Proteolipid protein 1
Gene symbol	PLP1
Synonyms (NCBI Gene)	GPM6CHLD1MMPLPLPPLP/DM20PMDSPG2
Chromosome	X
Chromosome location	Xq22.2
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 axona

Show/Hide all (77)

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
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT551509	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT551508	hsa-miR-4666b	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT735693	hsa-miR-485-3p	Microarray	32006661
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
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT551509	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT551508	hsa-miR-4666b	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT545028	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545029	hsa-miR-586	PAR-CLIP	21572407
MIRT545027	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT545026	hsa-miR-567	PAR-CLIP	21572407
MIRT545025	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT545023	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT545024	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545022	hsa-miR-3924	PAR-CLIP	21572407
MIRT545021	hsa-miR-6844	PAR-CLIP	21572407
MIRT545020	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT545019	hsa-miR-297	PAR-CLIP	21572407
MIRT545018	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT545017	hsa-miR-147a	PAR-CLIP	21572407
MIRT545016	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT1243095	hsa-miR-1273d	CLIP-seq
MIRT1243096	hsa-miR-197	CLIP-seq
MIRT1243097	hsa-miR-3123	CLIP-seq
MIRT1243098	hsa-miR-3671	CLIP-seq
MIRT1243099	hsa-miR-4311	CLIP-seq
MIRT1243100	hsa-miR-4461	CLIP-seq
MIRT1243101	hsa-miR-4762-5p	CLIP-seq
MIRT1243102	hsa-miR-607	CLIP-seq
MIRT2071828	hsa-miR-3074-3p	CLIP-seq
MIRT2298955	hsa-miR-3133	CLIP-seq
MIRT2298956	hsa-miR-3714	CLIP-seq
MIRT2298957	hsa-miR-518a-5p	CLIP-seq
MIRT2298958	hsa-miR-527	CLIP-seq
MIRT2298959	hsa-miR-548an	CLIP-seq

Show/Hide all (24)

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
GO:0006954	Process	Inflammatory response	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	2479017
GO:0008366	Process	Axon ensheathment	IEA
GO:0008366	Process	Axon ensheathment	TAS	2479017
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0016020	Component	Membrane	IEA
GO:0019911	Function	Structural constituent of myelin sheath	IBA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0022010	Process	Central nervous system myelination	IBA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0042552	Process	Myelination	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IPI	17962415
GO:0043209	Component	Myelin sheath	IBA
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0061564	Process	Axon development	IBA
GO:0061564	Process	Axon development	IEA

MIM	HGNC	e!Ensembl
300401	9086	ENSG00000123560

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

MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEY
LINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGG
QKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNT
WTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF

Sequence length

277

Interactions

View interactions

428

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy spectrum disorder	Pathogenic	rs2522317749	RCV003984985
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs2147764634	RCV001848569
Hereditary spastic paraplegia 2	Likely pathogenic; Pathogenic	rs2074517785, rs2147766958, rs2147764634, rs2147764596, rs2147764567, rs2147752783, rs113345335, rs2147764198, rs2522322595, rs786205605, rs2522301730, rs2522300691, rs797045064, rs1467533825, rs2522308589 View all (31 more)	RCV001331309 RCV001379651 RCV002545276 RCV001884207 RCV001886905 RCV002049878 RCV002003058 RCV001963109 RCV003050641 RCV003066358 RCV003984826 RCV002622394 RCV002820107 RCV001857679 RCV002839494 RCV002913146 RCV002922866 RCV003002061 RCV000203805 RCV001854777 RCV002288949 RCV001851798 RCV000011834 RCV001851799 RCV000011838 RCV000801130 RCV000011841 RCV003319958 RCV000691268 RCV003512892 RCV003513697 RCV003622655 RCV003623166 RCV005102053 RCV000463096 RCV000496178 RCV000578343 RCV001805225 RCV001860418 RCV000640482 RCV000795658 RCV000810065 RCV001068469 RCV001215006 RCV001225011 RCV003512111 RCV001391608 RCV000794114
Intellectual disability	Likely pathogenic	rs1556270312	RCV001257698
Pelizaeus-Merzbacher disease	Pathogenic; Likely pathogenic	rs1038021317, rs2147766958, rs2147764634, rs2147766999, rs2147764222, rs2522323175, rs797045064, rs2522314343, rs132630284, rs132630278, rs132630279, rs11543022, rs132630280, rs132630281, rs132630282 View all (82 more)	RCV001329970 RCV004595597 RCV002286852 RCV002250251 RCV002272930 RCV002510605 RCV000191119 RCV003151927 RCV003985083 RCV000011822 RCV000011823 RCV000011824 RCV000011825 RCV000011826 RCV000011828 RCV000011830 RCV000011831 RCV004595482 RCV000011835 RCV004595483 RCV004595484 RCV000011843 RCV000011845 RCV004589506 RCV000011848 RCV003319958 RCV004595503 RCV003331566 RCV004595714 RCV003988933 RCV004588586 RCV004588587 RCV004588588 RCV004588589 RCV004595749 RCV004595750 RCV004595752 RCV004595753 RCV004595754 RCV004595756 RCV004595759 RCV004595761 RCV004595762 RCV004595763 RCV004595764 RCV004595765 RCV004595766 RCV004595767 RCV004595770 RCV004595771 RCV004595772 RCV004595773 RCV004595775 RCV004595776 RCV004595777 RCV004595778 RCV004595779 RCV004595780 RCV004595782 RCV004595783 RCV004595784 RCV004595785 RCV004595786 RCV004595787 RCV004595788 RCV004595789 RCV004595790 RCV004595791 RCV004595792 RCV004595793 RCV004595794 RCV004595795 RCV004595797 RCV004595798 RCV004595799 RCV004595800 RCV004595801 RCV004595802 RCV004595803 RCV004595805 RCV004595807 RCV004595808 RCV004595809 RCV000449517 RCV000681649 RCV000655935 RCV004796239 RCV000590967 RCV000011844 RCV004595519 RCV003147521 RCV000656398 RCV000680072 RCV000768444 RCV004595533 RCV000990921 RCV000990922 RCV001007563 RCV001007649 RCV001007650 RCV001196160 RCV001197803 RCV004595578 RCV004595587 RCV004595494
Pelizaeus-Merzbacher disease, atypical	Likely pathogenic; Pathogenic	rs132630292, rs2522308926	RCV000011839 RCV000011846
Pelizaeus-Merzbacher disease, connatal	Pathogenic	rs132630286, rs132630293	RCV000011832 RCV000011840
Pelizaeus-Merzbacher disease, mild	Pathogenic	rs132630290	RCV000011836
PLP1-related disorder	Likely pathogenic; Pathogenic	rs2522301179, rs1556273167	RCV003894079 RCV004730983
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2522308250, rs2522313994	RCV005931649 RCV005933662

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Polycystic kidney disease, adult type	Benign; Likely benign	rs746502580	RCV005863873
See cases	Conflicting classifications of pathogenicity	rs2147766068	RCV003156144

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Epilepsy Temporal Lobe	Associate	39377933
Focal cortical dysplasia of Taylor	Associate	34301297
Genetic Diseases Inborn	Associate	35012964, 8659540
Genetic Predisposition to Disease	Associate	16778599
Glioblastoma	Associate	34516348
Hereditary Central Nervous System Demyelinating Diseases	Associate	2479017
Heredodegenerative Disorders Nervous System	Associate	31448840, 36368327
Hippocampal Sclerosis	Associate	19562355
Hypersensitivity Delayed	Associate	27506666
Intellectual Disability	Associate	27506666, 31448840
Leukodystrophy Metachromatic	Associate	1376966, 14681886
Leukoencephalopathies	Associate	17962415, 20637281, 27179222, 36622199, 8786077
Lung Diseases Interstitial	Associate	23897225
Mental Disorders	Associate	31448840
Mitochondrial Diseases	Associate	34506833
Multiple Sclerosis	Associate	12355425, 15120759, 27917626, 9278634
Neoplasms	Associate	24236209, 28427185, 39812346
Nerve Degeneration	Associate	19562355
Oligodendroglioma	Associate	24236209
Opitz Kaveggia syndrome	Associate	31951325
Paraparesis Spastic	Associate	27179222
Parkinson Disease	Associate	37947401
Parkinson Disease Secondary	Associate	19875103
Pelizaeus Merzbacher Disease	Associate	10588103, 12297985, 13679292, 1376966, 1384324, 16380909, 16778599, 1720927, 17962415, 18160035, 18437021, 18571143, 19376225, 19562355, 19825935 View all (37 more)
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	24019930, 35748297
Peripheral Nervous System Diseases	Associate	14681886, 21679407, 27179222
Polyradiculoneuropathy	Associate	9247276
Prostatic Neoplasms	Associate	39812346
Quadriplegia	Associate	18437021
Restless Legs Syndrome	Associate	21570342
Schizophrenia	Associate	19875103
Spastic paraplegia 2 X linked	Associate	19376225, 8320699
Spastic Paraplegia Hereditary	Associate	16778599, 19376225, 21679407, 31448840, 36622199, 37475517, 8320699
ST Elevation Myocardial Infarction	Associate	34360827
Tremor	Associate	36622199
Urinary Bladder Neoplasms	Associate	38307969

PLP1 (proteolipid protein 1)