PLP1
entrez
5354
canonical
uniprot
P60201
canonical
ensembl
ENSG00000123560
resolver
ensp
ENSP00000477619
resolver
ensp
ENSP00000481006
resolver
ensp
ENSP00000484450
resolver
ensp
ENSP00000537766
resolver
genesymbol
PLP1
resolver
genesymbol_syn
PLP
resolver
hgnc
HGNC:9086
resolver
uniprot
A0A0S2Z4D4
resolver
uniprot
A8K9L3
resolver
uniprot
B4DI30
resolver
uniprot
P04400
resolver
uniprot
P06905
resolver
uniprot
Q502Y1
resolver
uniprot
Q6FHZ6
resolver
uniprot_entry
A0A0S2Z4D4_HUMAN
resolver
uniprot_entry
A8K9L3_HUMAN
resolver
uniprot_entry
B4DI30_HUMAN
resolver
uniprot_entry
MYPR_HUMAN
resolver
uniprot_sec
P04400
resolver
uniprot_sec
P06905
resolver
uniprot_sec
Q502Y1
resolver
uniprot_sec
Q6FHZ6
resolver
amino_acid_sequence
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. {ECO:0000269|PubMed:10417279, ECO:0000269|PubMed:10425042, ECO:0000269|PubMed:11093273, ECO:0000269|PubMed:11786921, ECO:0000269|PubMed:1376966, ECO:0000269|PubMed:1384324, ECO:0000269|PubMed:15712223, ECO:0000269|PubMed:1707231, ECO:0000269|PubMed:1708672, ECO:0000269|PubMed:1715570, ECO:0000269|PubMed:2479017, ECO:0000269|PubMed:2480601, ECO:0000269|PubMed:2773936, ECO:0000269|PubMed:7531827, ECO:0000269|PubMed:7539213, ECO:0000269|PubMed:7541731, ECO:0000269|PubMed:7573159, ECO:0000269|PubMed:7679906, ECO:0000269|PubMed:7683951, ECO:0000269|PubMed:7684886, ECO:0000269|PubMed:8037216, ECO:0000269|PubMed:8909455, ECO:0000269|PubMed:9008538, ECO:0000269|PubMed:9143933, ECO:0000269|PubMed:9482656, ECO:0000269|PubMed:9633722, ECO:0000269|PubMed:9747038, ECO:0000269|PubMed:9788732, ECO:0000269|PubMed:9894878, ECO:0000269|PubMed:9934976}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, intellectual disability, optic atrophy. {ECO:0000269|PubMed:10319897, ECO:0000269|PubMed:11093273, ECO:0000269|PubMed:15450775, ECO:0000269|PubMed:17438221, ECO:0000269|PubMed:24103481, ECO:0000269|PubMed:7522741, ECO:0000269|PubMed:8012387, ECO:0000269|PubMed:8780101, ECO:0000269|PubMed:8956049, ECO:0000269|PubMed:9489796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
30077
uniprot
proteins
protein_family
Myelin proteolipid protein family
uniprot
proteins
pubmed
10319897
uniprot
proteins
pubmed
10417279
uniprot
proteins
pubmed
10425042
uniprot
proteins
pubmed
11093273
uniprot
proteins
pubmed
11786921
uniprot
proteins
pubmed
1376966
uniprot
proteins
pubmed
1384324
uniprot
proteins
pubmed
15450775
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712223
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1707231
uniprot
proteins
pubmed
1708672
uniprot
proteins
pubmed
1711121
uniprot
proteins
pubmed
1715570
uniprot
proteins
pubmed
17438221
uniprot
proteins
pubmed
24103481
uniprot
proteins
pubmed
2441695
uniprot
proteins
pubmed
2449536
uniprot
proteins
pubmed
2479017
uniprot
proteins
pubmed
2480601
uniprot
proteins
pubmed
2773936
uniprot
proteins
pubmed
3467339
uniprot
proteins
pubmed
35217805
uniprot
proteins
pubmed
4041237
uniprot
proteins
pubmed
7522741
uniprot
proteins
pubmed
7531827
uniprot
proteins
pubmed
7539213
uniprot
proteins
pubmed
7541731
uniprot
proteins
pubmed
7573159
uniprot
proteins
pubmed
7679906
uniprot
proteins
pubmed
7683951
uniprot
proteins
pubmed
7684886
uniprot
proteins
pubmed
8012387
uniprot
proteins
pubmed
8037216
uniprot
proteins
pubmed
8780101
uniprot
proteins
pubmed
8909455
uniprot
proteins
pubmed
8956049
uniprot
proteins
pubmed
9008538
uniprot
proteins
pubmed
9143933
uniprot
proteins
pubmed
9482656
uniprot
proteins
pubmed
9489796
uniprot
proteins
pubmed
9633722
uniprot
proteins
pubmed
9747038
uniprot
proteins
pubmed
9788732
uniprot
proteins
pubmed
9894878
uniprot
proteins
pubmed
9934976
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24103481}; Multi-pass membrane protein {ECO:0000269|PubMed:24103481}. Myelin membrane {ECO:0000250}. Note=Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..36; /note="Helical; Name=1"; /evidence="ECO:0000305"; TRANSMEM 64..88; /note="Helical; Name=2"; /evidence="ECO:0000305"; TRANSMEM 152..177; /note="Helical; Name=3"; /evidence="ECO:0000305"; TRANSMEM 234..260; /note="Helical; Name=4"; /evidence="ECO:0000305
uniprot
proteins