G2Cdb::Gene report

Gene id
G00001806
Gene symbol
PLP1 (HGNC)
Species
Homo sapiens
Description
proteolipid protein 1
Orthologue
G00000557 (Mus musculus)

Databases (9)

Curated Gene
OTTHUMG00000022111 (Vega human gene)
Gene
ENSG00000123560 (Ensembl human gene)
5354 (Entrez Gene)
104 (G2Cdb plasticity & disease)
PLP1 (GeneCards)
Literature
300401 (OMIM)
Marker Symbol
HGNC:9086 (HGNC)
Protein Expression
4128 (human protein atlas)
Protein Sequence
P60201 (UniProt)

Diseases (8)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000155: Pelizaeus-Merzbacher disease Y Y (1376553) Polymorphism (P) ?
D00000155: Pelizaeus-Merzbacher disease Y Y (1376966) Unknown (?) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (1720927) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (2480601) Polymorphism (P) Y
D00000195: Multiple sclerosis Y Y (7504548) Insertion (I) N
D00000155: Pelizaeus-Merzbacher disease Y Y (7509234) Insertion (I) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7509235) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7539211) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7539212) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7539213) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7541731) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7573159) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7679906) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7684886) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (7684945) Frameshift mutation (FS) Y
D00000205: Charcot-Marie-Tooth disease type 1A Y Y (8615087) Polymorphism (P) Y
D00000205: Charcot-Marie-Tooth disease type 1A Y Y (8615087) Duplication (Du) Y
D00000187: Spastic paraplegia (hereditary) Y Y (8780101) Polymorphism (P) ?
D00000155: Pelizaeus-Merzbacher disease Y Y (8786077) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9008538) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9056547) Nonsense (No) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9106132) Unknown (?) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9268109) Nonsense (No) Y
D00000189: Spastic paraplegia (X-linked) Y Y (9489796) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9633722) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (9934976) Polymorphism (P) Y
D00000189: Spastic paraplegia (X-linked) Y Y (9934976) Polymorphism (P) Y
D00000213: Spastic paraplegia type 2 (late onset) Y Y (10319897) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (10401787) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (10425042) Single nucleotide polymorphism (SNP) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (10588103) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (10588103) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (10827108) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11071483) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11139261) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11180600) Unknown (?) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11536268) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11786921) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (11787038) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (12601703) Polymorphism (P) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (12605435) Insertion (I) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (12605435) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (12891682) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (14533091) Deletion (D) Y
D00000212: Spastic paraplegia type 2 Y Y (15450775) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (15689360) Duplication (Du) Y
D00000166: Schizophrenia Y Y (15694262) Single nucleotide polymorphism (SNP) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (15712223) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (15712223) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (15712223) Deletion (D) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (15837131) Single nucleotide polymorphism (SNP) Y
D00000195: Multiple sclerosis Y Y (16130097) Microinsertion (MI) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (16380909) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (16416265) Duplication (Du) Y
D00000155: Pelizaeus-Merzbacher disease Y Y (16416265) Deletion (D) Y

References

Literature (120)

Pubmed - human_disease

Pubmed - other

Gene lists (9)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000014 G2C Homo sapiens Human ARC Human orthologues of mouse AMPA receptor complex adapted from Collins et al (2006) 9
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000049 G2C Homo sapiens TAP-PSD-95-CORE TAP-PSD-95 pull-down core list (ortho) 120
L00000059 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-CONSENSUS Human cortex PSD consensus 748
L00000061 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-CONSENSUS Mouse cortex PSD consensus (ortho) 984
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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