P60201 (MYPR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myelin proteolipid protein
Short name=PLP

Alternative name(s):
Lipophilin

Gene names

Name:	PLP1
Synonyms:	PLP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	277 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subcellular location	Membrane; Multi-pass membrane protein.
Involvement in disease	Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.24 Ref.25 Ref.26 Ref.27 Ref.30 Ref.31 Ref.32 Ref.33 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.42 Ref.43 Ref.44 Ref.46 Spastic paraplegia X-linked 2 (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, mental retardation, optic atrophy. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22 Ref.23 Ref.28 Ref.29 Ref.34 Ref.41 Ref.43 Ref.45 Ref.47
Sequence similarities	Belongs to the myelin proteolipid protein family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Hereditary spastic paraplegia Leukodystrophy Neurodegeneration
Domain	Transmembrane Transmembrane helix
PTM	Disulfide bond Lipoprotein Palmitate
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	axon ensheathment Traceable author statement Ref.3. Source: ProtInc cell death Inferred from electronic annotation. Source: UniProtKB-KW cell maturation Inferred from electronic annotation. Source: Compara central nervous system myelination Inferred from electronic annotation. Source: Compara integrin-mediated signaling pathway Inferred from electronic annotation. Source: Compara long-chain fatty acid biosynthetic process Inferred from electronic annotation. Source: Compara positive regulation of gene expression Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement Ref.3. Source: ProtInc
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW myelin sheath Inferred from electronic annotation. Source: Compara
Molecular_function	structural constituent of myelin sheath Inferred from electronic annotation. Source: Compara structural molecule activity Traceable author statement Ref.3. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P60201-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform DM-20 (identifier: P60201-2)

The sequence of this isoform differs from the canonical sequence as follows:
     117-151: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.8
	Chain	2 – 277	276	Myelin proteolipid protein		PRO_0000159005
Regions
	Topological domain	2 – 9	8	Cytoplasmic Probable
	Transmembrane	10 – 36	27	Helical; Name=1; Probable
	Topological domain	37 – 63	27	Extracellular Probable
	Transmembrane	64 – 88	25	Helical; Name=2; Probable
	Topological domain	89 – 151	63	Cytoplasmic Probable
	Transmembrane	152 – 177	26	Helical; Name=3; Probable
	Topological domain	178 – 233	56	Extracellular Probable
	Transmembrane	234 – 260	27	Helical; Name=4; Probable
	Topological domain	261 – 277	17	Cytoplasmic Probable
Amino acid modifications
	Lipidation	6	1	S-palmitoyl cysteine By similarity
	Lipidation	7	1	S-palmitoyl cysteine By similarity
	Lipidation	10	1	S-palmitoyl cysteine By similarity
	Lipidation	109	1	S-palmitoyl cysteine By similarity
	Lipidation	139	1	S-palmitoyl cysteine By similarity
	Lipidation	141	1	S-palmitoyl cysteine By similarity
	Lipidation	199	1	O-palmitoyl serine By similarity
	Disulfide bond	184 ↔ 228		By similarity
	Disulfide bond	201 ↔ 220		By similarity
Natural variations
	Alternative sequence	117 – 151	35	Missing in isoform DM-20.		VSP_003325
	Natural variant	15	1	P → L in HLD1. Ref.12		VAR_004546
	Natural variant	31	1	L → P in HLD1. Ref.43		VAR_015014
	Natural variant	32	1	F → L in HLD1. Ref.43		VAR_015015
	Natural variant	32	1	F → V in HLD1. Ref.37		VAR_015016
	Natural variant	33	1	C → Y in HLD1. Ref.46		VAR_046906
	Natural variant	35	1	C → R in HLD1. Ref.46		VAR_046907
	Natural variant	35	1	C → Y in HLD1. Ref.38		VAR_015017
	Natural variant	39	1	A → T in HLD1. Ref.38 Ref.46		VAR_015018
	Natural variant	43	1	T → I in HLD1. Ref.25		VAR_004547
	Natural variant	46	1	L → P in HLD1/SPG2. Ref.39 Ref.46		VAR_015019
	Natural variant	46	1	L → R in HLD1. Ref.40		VAR_015020
	Natural variant	50	1	Y → C in HLD1. Ref.46		VAR_046908
	Natural variant	51	1	F → S in HLD1. Ref.43		VAR_015021
	Natural variant	60	1	Y → C in HLD1. Ref.38		VAR_015022
	Natural variant	74	1	G → R in HLD1. Ref.16 Ref.38 Ref.43		VAR_004548
	Natural variant	76	1	A → P in HLD1. Ref.46		VAR_046909
	Natural variant	116	1	T → K in HLD1. Ref.30		VAR_015023
	Natural variant	117 – 165	49	Missing in HLD1.		VAR_004550
	Natural variant	130	1	H → Y in SPG2. Ref.43		VAR_015024
	Natural variant	137	1	R → W in SPG2. Ref.47		VAR_046910
	Natural variant	140	1	H → Y in SPG2. Ref.22		VAR_004551
	Natural variant	148	1	H → Y in HLD1/SPG2. Ref.41 Ref.46		VAR_015025
	Natural variant	151	1	K → N in HLD1. Ref.27		VAR_015026
	Natural variant	156	1	T → I in HLD1. Ref.13 Ref.14		VAR_004552
	Natural variant	162	1	V → E in HLD1. Ref.46		VAR_046911
	Natural variant	163	1	W → R in HLD1. Ref.3		VAR_004553
	Natural variant	166	1	V → E in HLD1. Ref.18		VAR_004554
	Natural variant	166	1	V → G in HLD1/SPG2. Ref.39		VAR_015027
	Natural variant	169	1	C → R in HLD1. Ref.38		VAR_015028
	Natural variant	170	1	S → F in SPG2. Ref.34		VAR_015029
	Natural variant	170	1	S → P in HLD1. Ref.46		VAR_046912
	Natural variant	172	1	V → A in HLD1. Ref.37		VAR_015030
	Natural variant	173	1	P → S in HLD1. Ref.46		VAR_046913
	Natural variant	175	1	Y → C in HLD1. Ref.38		VAR_015031
	Natural variant	181	1	W → C in HLD1. Ref.38 Ref.43		VAR_015032
	Natural variant	182	1	T → P in HLD1. Ref.17		VAR_004555
	Natural variant	183	1	T → N in HLD1. Ref.38		VAR_015033
	Natural variant	187	1	I → T in SPG2. Ref.23		VAR_004556
	Natural variant	203	1	D → E in HLD1. Ref.38 Ref.43		VAR_015034
	Natural variant	203	1	D → G in HLD1. Ref.38		VAR_015035
	Natural variant	203	1	D → H in HLD1. Ref.16		VAR_004557
	Natural variant	203	1	D → N in HLD1. Ref.38		VAR_015036
	Natural variant	203	1	D → V in HLD1. Ref.36		VAR_007956
	Natural variant	205	1	R → G in HLD1. Ref.37		VAR_015037
	Natural variant	207	1	Y → C in HLD1. Ref.37		VAR_015038
	Natural variant	209	1	V → D in HLD1. Ref.32 Ref.40		VAR_015039
	Natural variant	210	1	L → H in HLD1. Ref.38		VAR_015040
	Natural variant	211	1	P → L in HLD1. Ref.32 Ref.40		VAR_015041
	Natural variant	212	1	W → R in HLD1. Ref.38 Ref.43		VAR_015042
	Natural variant	216	1	P → A in HLD1. Ref.43		VAR_015043
	Natural variant	216	1	P → L in SPG2. Ref.45		VAR_046914
	Natural variant	216	1	P → S in HLD1. Ref.21 Ref.38		VAR_004558
	Natural variant	217	1	G → S in HLD1. Ref.11 Ref.19		VAR_004559
	Natural variant	219	1	V → F in HLD1. Ref.15		VAR_004560
	Natural variant	220	1	C → Y in HLD1. Ref.40		VAR_015044
	Natural variant	221	1	G → C in HLD1. Ref.20		VAR_004561
	Natural variant	224	1	L → I in HLD1/SPG2. Ref.39		VAR_015045
	Natural variant	224	1	L → P in HLD1. Ref.17		VAR_004562
	Natural variant	225	1	L → P in HLD1. Ref.46		VAR_046915
	Natural variant	226	1	S → P in SPG2. Ref.29		VAR_015046
	Natural variant	228	1	C → Y in HLD1. Ref.38		VAR_015047
	Natural variant	234	1	Q → P in HLD1. Ref.38		VAR_015048
	Natural variant	237	1	F → S in SPG2. Ref.28		VAR_004563
	Natural variant	239	1	L → P in HLD1. Ref.46		VAR_046916
	Natural variant	242	1	A → P in HLD1. Ref.31 Ref.40		VAR_015049
	Natural variant	243	1	A → E in HLD1. Ref.44		VAR_046917
	Natural variant	243	1	A → V in HLD1. Ref.33		VAR_046918
	Natural variant	246	1	G → A in HLD1. Ref.46		VAR_046919
	Natural variant	246	1	G → E in HLD1. Ref.38		VAR_015050
	Natural variant	247	1	A → T in HLD1. Ref.42		VAR_046920
	Natural variant	248	1	A → E in HLD1. Ref.38		VAR_015051
	Natural variant	249	1	A → P in HLD1. Ref.26		VAR_004565
	Natural variant	253	1	S → F in HLD1. Ref.35		VAR_015052
Experimental info
	Sequence conflict	140	1	H → T in AAA60117. Ref.7
	Sequence conflict	185	1	Q → D in AAA59565. Ref.3
	Sequence conflict	213	1	N → I in AAA59565. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 3C2BC973C3061C38	FASTA	277	30,077
	10 20 30 40 50 60 MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY FSKNYQDYEY 70 80 90 100 110 120 LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI FGDYKTTICG KGLSATVTGG 130 140 150 160 170 180 QKGRGSRGQH QAHSLERVCH CLGKWLGHPD KFVGITYALT VVWLLVFACS AVPVYIYFNT 190 200 210 220 230 240 WTTCQSIAFP SKTSASIGSL CADARMYGVL PWNAFPGKVC GSNLLSICKT AEFQMTFHLF 250 260 270 IAAFVGAAAT LVSLLTFMIA ATYNFAVLKL MGRGTKF
	Isoform DM-20 [UniParc]. Checksum: 90DEFE60148DC659	FASTA	242	26,274
	10 20 30 40 50 60 MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY FSKNYQDYEY 70 80 90 100 110 120 LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI FGDYKTTICG KGLSATFVGI 130 140 150 160 170 180 TYALTVVWLL VFACSAVPVY IYFNTWTTCQ SIAFPSKTSA SIGSLCADAR MYGVLPWNAF 190 200 210 220 230 240 PGKVCGSNLL SICKTAEFQM TFHLFIAAFV GAAATLVSLL TFMIAATYNF AVLKLMGRGT KF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Individual exons encode the integral membrane domains of human myelin proteolipid protein." Diehl H.-J., Schaich M., Budzinski R.-M., Stoffel W. Proc. Natl. Acad. Sci. U.S.A. 83:9807-9811(1986) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence." Simons R., Alon N., Riordan J.R. Biochem. Biophys. Res. Commun. 146:666-671(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DM-20).
[3]	"Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder." Hudson L.D., Puckett C., Berndt J., Chan J., Gencic S. Proc. Natl. Acad. Sci. U.S.A. 86:8128-8131(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HLD1 ARG-163.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM DM-20).
[5]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND DM-20). Tissue: Spinal cord and Uterus.
[8]	"Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved." Stoffel W., Giersiefen H., Hillen H., Schroeder W., Tunggal B. Biol. Chem. Hoppe-Seyler 366:627-635(1985) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-277.
[9]	"Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA." Kronquist K.E., Crandall B.F., Macklin W.B., Campagnoni A.T. J. Neurosci. Res. 18:395-401(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Spinal cord.
[10]	"Major myelin proteolipid: the 4-alpha-helix topology." Popot J.-L., Pham-Dinh D., Dautigny A. J. Membr. Biol. 120:233-246(1991) [PubMed] [Europe PMC] [Abstract] Cited for: TOPOLOGY.
[11]	"Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein." Gencic S., Abuelo D., Ambler M., Hudson L.D. Am. J. Hum. Genet. 45:435-442(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 SER-217.
[12]	"Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant." Trofatter J., Dlouhy S.R., Demyer W., Conneally P.M., Hodes M.E. Proc. Natl. Acad. Sci. U.S.A. 86:9427-9430(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 LEU-15.
[13]	"A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis." Weimbs T., Dick T., Stoffel W., Boltshauser E. Biol. Chem. Hoppe-Seyler 371:1175-1183(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 ILE-156.
[14]	"A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease." Pratt V.M., Trofatter J.A., Schinzel A., Dlouhy S.R., Conneally P.M., Hodes M.E. Am. J. Med. Genet. 38:136-139(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 ILE-156.
[15]	"Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid." Pham-Dinh D., Popot J.-L., Bosepflug-Tanguy O., Landrieu P., Deleuze P., Boue J., Jolles P., Dautigny A. Proc. Natl. Acad. Sci. U.S.A. 88:7562-7566(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 PHE-219.
[16]	"Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease." Doll R., Natowicz M.R., Schiffmann R., Smith F.I. Am. J. Hum. Genet. 51:161-169(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 ARG-74 AND HIS-203.
[17]	"Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis." Strautnieks S., Rutland P., Winter R.M., Baraitser M., Malcolm S. Am. J. Hum. Genet. 51:871-878(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 PRO-182 AND PRO-224.
[18]	"Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred." Pratt V.M., Kiefer J.R., Lahdetie J., Schleutker J., Hodes M.E., Dlouhy S.R. Am. J. Hum. Genet. 52:1053-1056(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 GLU-166.
[19]	"A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease." Otterbach B., Stoffel W., Ramaekers V. Biol. Chem. Hoppe-Seyler 374:75-83(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 SER-217.
[20]	"A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family." Iwaki A., Muramoto T., Iwaki I., Furumi H., Dario-Deleon M.L., Tateishi J., Fukumaki Y. Hum. Mol. Genet. 2:19-22(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 CYS-221.
[21]	"Comparison of statistics for candidate-gene association studies using cases and parents." Pratt V.M., Boyadjiev S., Dlouhy S.R., Silver K., der Kaloustian V.M., Hodes M.E. Am. J. Hum. Genet. 55:402-409(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 SER-216.
[22]	"X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus." Saugier-Veber P., Munnich A., Bonneau D., Rozet J.-M., le Merrer M., Gil R., Boespflug-Tanguy O. Nat. Genet. 6:257-262(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 TYR-140.
[23]	"The rumpshaker mutation in spastic paraplegia." Kobayashi H., Hoffman E.P., Marks H.G. Nat. Genet. 7:351-352(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 THR-187.
[24]	"In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease." Kleindorfer D.O., Dlouhy S.R., Pratt V.M., Jones M.C., Trofatter J.A., Hodes M.E. Am. J. Med. Genet. 55:405-407(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 116-VAL--LEU-165 DEL.
[25]	"Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus." Pratt V.M., Boyadjiev S., Green K., Hodes M.E., Dlouhy S.R. Am. J. Med. Genet. 58:70-73(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 ILE-43.
[26]	"Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene." Pratt V.M., Dlouhy S.R., Hodes M.E. Clin. Genet. 47:99-100(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 PRO-249.
[27]	"A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease." Pratt V.M., Naidu S., Dlouhy S.R., Marks H.G., Hodes M.E. Neurology 45:394-395(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 ASN-151.
[28]	"A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia." Donnelly A., Colley A., Crimmins D., Mulley J. Hum. Mutat. 8:384-385(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 SER-237.
[29]	"Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia." Cambi F., Tang X.M., Cordray P., Fain P.R., Keppen L.D., Barker D.F. Neurology 46:1112-1117(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 PRO-226.
[30]	"Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease." Nance M.A., Boyadjiev S., Pratt V.M., Taylor S., Hodes M.E., Dlouhy S.R. Neurology 47:1333-1335(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 LYS-116.
[31]	"A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease." Kawanishi C., Osaka H., Owa K., Inoue K., Miyakawa T., Onishi H., Yamada Y., Suzuki K., Kimura S., Kosaka K. Hum. Mutat. 9:475-476(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 PRO-242.
[32]	"Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease." Inoue K., Osaka H., Kawanishi C., Sugiyama N., Ishii M., Sugita K., Yamada Y., Kosaka K. Neurology 48:283-285(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 ASP-209 AND LEU-211.
[33]	"Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease." Yamamoto T., Nanba E., Zhang H., Sasaki M., Komaki H., Takeshita K. Am. J. Med. Genet. 75:439-440(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 VAL-243.
[34]	"X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)." Hodes M.E., Hadjisavvas A., Butler I.J., Aydanian A., Dlouhy S.R. Am. J. Med. Genet. 75:516-517(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 PHE-170.
[35]	"A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease." Hodes M.E., Aydanian A., Dlouhy S.R., Whelan D.T., Heshka T., Ronen G. Clin. Genet. 54:248-249(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 PHE-253.
[36]	"Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene." Nagao M., Kadowaki J. J. Hum. Genet. 43:206-208(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 VAL-203.
[37]	"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease." Sistermans E.A., de Coo R.F.M., De Wijs I.J., Van Oost B.A. Neurology 50:1749-1754(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 VAL-32; ALA-172; GLY-205 AND CYS-207.
[38]	"Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not." Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., Boespflug-Tanguy O., Baethmann M., Bertini E., Cuisset J.M., Gaertner J., Hanefeld F., Kohlschutter A., Landrieu P., Mayer M., Peudenier S., Rodriguez D., Rating D. , Surtees R., Uziel G., Vallee L., Voit T. Am. J. Hum. Genet. 65:360-369(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 TYR-35; THR-39; CYS-60; ARG-74; ARG-169; CYS-175; CYS-181; ASN-183; ASN-203; GLU-203; GLY-203; HIS-210; ARG-212; SER-216; TYR-228; PRO-234; GLU-246 AND GLU-248.
[39]	"Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)." Hodes M.E., Zimmerman A.W., Aydanian A., Naidu S., Miller N.R., Garcia Oller J.L., Barker B., Aleck K.A., Hurley T.D., Dlouhy S.R. Am. J. Med. Genet. 82:132-139(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1/SPG2 PRO-46; GLY-166 AND ILE-224.
[40]	"Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity." Osaka H., Kawanishi C., Inoue K., Onishi H., Kobayashi T., Sugiyama N., Kosaka K., Nezu A., Fujii K., Sugita K., Kodama K., Murayama K., Murayama S., Kanazawa I., Kimura S. Ann. Neurol. 45:59-64(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 ARG-46; ASP-209; LEU-211; TYR-220 AND PRO-242.
[41]	"Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members." Sivakumar K., Sambuughin N., Selenge B., Nagle J.W., Baasanjav D., Hudson L.D., Goldfarb L.G. Ann. Neurol. 45:680-683(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 TYR-148.
[42]	"A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease." Yamamoto T., Nanba E. Hum. Mutat. 14:182-182(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 THR-247.
[43]	"Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations." Cailloux F., Gauthier-Barichard F., Mimault C., Isabelle V., Courtois V., Giraud G., Dastugue B., Boespflug-Tanguy O., Baethmann M., Bertini E., Cuisset J.M., Gaertner J., Hanefeld F., Kohlschutter A., Landrieu P., Mayer M., Peudenier S., Rodriguez D. , Rating D., Surtees R., Uziel G., Vallee L., Voit T. Eur. J. Hum. Genet. 8:837-845(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 PRO-31; LEU-32; SER-51; ARG-74; CYS-181; GLU-203; ARG-212 AND ALA-216, VARIANT SPG2 TYR-130.
[44]	"A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene." Seeman P., Paderova K., Benes V. Jr., Sistermans E.A. Int. J. Mol. Med. 9:125-129(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HLD1 GLU-243.
[45]	"A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene." Lee E.S., Moon H.K., Park Y.H., Garbern J., Hobson G.M. J. Neurol. Sci. 224:83-87(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 LEU-216.
[46]	"Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease." Huebner C.A., Orth U., Senning A., Steglich C., Kohlschuetter A., Korinthenberg R., Gal A. Hum. Mutat. 25:321-322(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HLD1 TYR-33; ARG-35; THR-39; PRO-46; CYS-50; PRO-76; TYR-148; GLU-162; PRO-170; SER-173; PRO-225; PRO-239 AND ALA-246.
[47]	"Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation." Gorman M.P., Golomb M.R., Walsh L.E., Hobson G.M., Garbern J.Y., Kinkel R.P., Darras B.T., Urion D.K., Eksioglu Y.Z. Neurology 68:1305-1307(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SPG2 TRP-137.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M15032 , M15026, M15027, M15028, M15029, M15031 Genomic DNA. Translation: AAA60350.1. Sequence problems.
AJ006976 Genomic DNA. Translation: CAA07364.1.
M54927 mRNA. Translation: AAA59565.1.
M17085 mRNA. Translation: AAA60118.1.
M27110 mRNA. Translation: AAA60117.1.
CR536542 mRNA. Translation: CAG38779.1.
Z73964 Genomic DNA. Translation: CAA98191.1.
Z73964 Genomic DNA. Translation: CAI42028.1.
CH471190 Genomic DNA. Translation: EAW54690.1.
BC002665 mRNA. Translation: AAH02665.1.
BC095452 mRNA. Translation: AAH95452.1.
D13320 Genomic DNA. Translation: BAA02577.1.
S55837 Genomic DNA. Translation: AAD13880.1. Sequence problems.

IPI

IPI00219661.
IPI00939728.

PIR

MPHUPL. A26665.

RefSeq

NP_000524.3. NM_000533.3.
NP_001122306.1. NM_001128834.1.
NP_955772.1. NM_199478.1.

UniGene

Hs.1787.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2XPG	X-ray	2.60	C	45-53	[»]

ProteinModelPortal

P60201.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000305152.

PTM databases

PhosphoSite

P60201.

Polymorphism databases

DMDM

41393531.

2D gel databases

UCD-2DPAGE

P60201.

Proteomic databases

PaxDb

P60201.

PRIDE

P60201.

Protocols and materials databases

DNASU

5354.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000303958; ENSP00000305152; ENSG00000123560.
ENST00000361621; ENSP00000354860; ENSG00000123560.
ENST00000418604; ENSP00000405750; ENSG00000123560.

GeneID

5354.

KEGG

hsa:5354.

UCSC

uc004elj.3. human.
uc004elk.3. human.

Organism-specific databases

CTD

5354.

GeneCards

GC0XP103028.

HGNC

HGNC:9086. PLP1.

HPA

HPA004128.

MIM

300401. gene.
312080. phenotype.
312920. phenotype.

neXtProt

NX_P60201.

Orphanet

280248. Complicated spastic paraplegia type 2.
280234. Null syndrome.
280229. Pelizaeus-Merzbacher disease in female carriers.
280219. Pelizaeus-Merzbacher disease, classic form.
280210. Pelizaeus-Merzbacher disease, connatal form.
280224. Pelizaeus-Merzbacher disease, transitional form.
280239. Pure spastic paraplegia type 2.

PharmGKB

PA33414.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG311658.

HOGENOM

HOG000231338.

HOVERGEN

HBG000096.

InParanoid

P60201.

OMA

YCIVLLA.

OrthoDB

EOG4B8JDT.

Gene expression databases

ArrayExpress

P60201.

Bgee

P60201.

CleanEx

HS_PLP1.

Genevestigator

P60201.

GermOnline

ENSG00000123560. Homo sapiens.

Family and domain databases

InterPro

IPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]

PANTHER

PTHR11683. PTHR11683. 1 hit.

Pfam

PF01275. Myelin_PLP. 1 hit.
[Graphical view]

PRINTS

PR00214. MYELINPLP.

SMART

SM00002. PLP. 1 hit.
[Graphical view]

PROSITE

PS00575. MYELIN_PLP_1. 1 hit.
PS01004. MYELIN_PLP_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

PLP1. human.

GenomeRNAi

5354.

NextBio

20752.

SOURCE

Search...

Entry information

Entry name

MYPR_HUMAN

Accession

Primary (citable) accession number: P60201
Secondary accession number(s): P04400 , P06905, Q502Y1, Q6FHZ6

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1988
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 107 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.