PLP1 - proteolipid protein 1 Gene
Also Known as PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
Species: Homo sapiens
About PLP1
This gene has 23 transcripts (splice variants), 276 orthologues, 2 paralogues and is associated with 11 phenotypes. Restricted expression toward brain (RPKM 1259.3).
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]
PLP1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000533.5 | NP_000524.3 | myelin proteolipid protein isoform 1 |
| NM_001128834.3 | NP_001122306.1 | myelin proteolipid protein isoform 1 |
| NM_001305004.1 | NP_001291933.1 | myelin proteolipid protein isoform 3 |
| NM_199478.3 | NP_955772.1 | myelin proteolipid protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
17962415 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
24103481 | GOA |
PLP1 Protein Structure
Myelin_PLP: Myelin proteolipid protein (PLP or lipophilin) (2 - 276)
- 0
- 100
- 200
- 277 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myelin proteolipid protein |
|
PLP1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PLP1 | P60201 | PTPRN | Homo sapiens | Q16849-3 | 25416956 | |
|
Intra
|
PLP1 | P60201 | CREB3L1 | Homo sapiens | Q96BA8 | 26871637 | |
|
Intra
|
PLP1 | P60201 | CREB3L1 | Homo sapiens | Q96BA8 | 26871637 | |
|
Intra
|
PLP1 | P60201 | CREB3L1 | Homo sapiens | Q96BA8 | 26871637 | |
|
Intra
|
PLP1 | P60201 | BCL2L13 | Homo sapiens | Q9BXK5 | 26871637 | |
|
Intra
|
PLP1 | P60201 | BCL2L13 | Homo sapiens | Q9BXK5 | 26871637 | |
|
Intra
|
PLP1 | P60201 | BCL2L13 | Homo sapiens | Q9BXK5 | 26871637 |
PLP1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86976 | Myelin PLP Antibody (YA6669) | WB, IHC-P, IHC-F | Human, Mouse, Rat |
| HY-P86977 | Myelin PLP Antibody (YA6670) | WB, IHC-P, IF-Tissue, IHC-F | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pelizaeus-Merzbacher Disease |
|
|
| Spastic Paraplegia 2, X-Linked |
|
|
| Pelizaeus-Merzbacher Disease, Classic Form |
|
|
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
|
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
|
| Hypomyelination Of Early Myelinating Structures |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Paraplegia |
|
|
| Demyelinating Disease |
|
|
| Primary Progressive Multiple Sclerosis |
|
|
| Optic Neuritis |
|
|
| Leukodystrophy |
|
|
| Spasticity |
|
|
| Spastic Quadriplegia |
|
|
| Striatonigral Degeneration |
|
|
| Pelizaeus-Merzbacher-Like Disease |
|
|
| Quadriplegia |
|
|
| Metachromatic Leukodystrophy |
|
|
| Multiple Sclerosis |
|
|
| Myasthenia Gravis |
|
|
| Spastic Paraplegia 44, Autosomal Recessive |
|
|
| Cerebral Degeneration |
|
|
| Hypomyelinating Leukoencephalopathy |
|
|
| Leukodystrophy, Hypomyelinating, 2 |
|
|
| Cocaine Abuse |
|
|
| Niemann-Pick Disease, Type A |
|
|
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
|
| Cerebral Palsy |
|
|
| Autoimmune Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Niemann-Pick Disease |
|
|
| Central Nervous System Disease |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Leukodystrophy, Hypomyelinating, 4 |
|
|
| Hypomyelinating Leukodystrophy |
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
|
|
| Spastic Cerebral Palsy |
|
|
| Canavan Disease |
|
|
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
|
| Hereditary Neuropathies |
|
|
| Gene Duplication Disease |
|
|
| Alexander Disease |
|
|
| Allan-Herndon-Dudley Syndrome |
|
|
| Leukodystrophy, Hypomyelinating, 6 |
|
|
| Krabbe Disease |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
|
| Cardiomyopathy, Dilated, 1m |
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a |
|
|
| Leukodystrophy, Hypomyelinating, 5 |
|
|
| Leukoencephalopathy With Vanishing White Matter |
|
|
| Leukodystrophy, Hypomyelinating, 3 |
|
|
| Alzheimer'S Disease 1 |
|
|
| Schizophrenia |
|
|
| Spastic Ataxia |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PLP1 | VGNC | VGNC:44704 |
| Bos taurus | PLP1 | VGNC | VGNC:33042 |
| Mus musculus | PLP1 | MGD | MGI:97623 |
| Rattus norvegicus | PLP1 | RGD | RGD:3354 |
| Felis catus | PLP1 | VGNC | VGNC:68910 |
| Macaca mulatta | PLP1 | VGNC | VGNC:76178 |
| Others | PLP1 | NCBI |