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HUMAN:PMP22

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) PMP22 (synonyms: GAS3)
Protein Name(s) Peripheral myelin protein 22

PMP-22 Growth arrest-specific protein 3 GAS-3

External Links
UniProt Q01453
EMBL M94048
D11428
S61788
L03203
BC019040
X65968
CCDS CCDS11168.1
PIR JN0503
RefSeq NP_000295.1
NP_001268384.1
NP_001268385.1
NP_696996.1
NP_696997.1
UniGene Hs.372031
Hs.658306
ProteinModelPortal Q01453
SMR Q01453
BioGrid 111389
IntAct Q01453
STRING 9606.ENSP00000308937
ChEMBL CHEMBL1293298
DMDM 266803
DNASU 5376
Ensembl ENST00000312280
ENST00000395938
ENST00000612492
GeneID 5376
KEGG hsa:5376
UCSC uc002goj.3
CTD 5376
GeneCards GC17M015133
GeneReviews PMP22
H-InvDB HIX0039508
HGNC HGNC:9118
MIM 118220
118300
139393
145900
162500
601097
neXtProt NX_Q01453
Orphanet 98916
101081
90658
64748
640
3115
PharmGKB PA33444
eggNOG NOG43599
HOGENOM HOG000059542
HOVERGEN HBG001690
InParanoid Q01453
OMA AIFTVRH
OrthoDB EOG7034KD
PhylomeDB Q01453
TreeFam TF330414
ChiTaRS PMP22
GeneWiki Peripheral_myelin_protein_22
GenomeRNAi 5376
NextBio 20856
PRO PR:Q01453
Proteomes UP000005640
Bgee Q01453
CleanEx HS_PMP22
ExpressionAtlas Q01453
Genevestigator Q01453
GO GO:0016021
GO:0005886
GO:0032060
GO:0008219
GO:0007422
GO:0007268
InterPro IPR003936
IPR004031
IPR004032
Pfam PF00822
PRINTS PR01453
PR01458
PROSITE PS01221
PS01222

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0005886

plasma membrane

PMID:12107182[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0032060

bleb assembly

PMID:12107182[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008219

cell death

PMID:12107182[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0042552

myelination

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000072455
RGD:3359

P

Seeded From UniProt

complete

involved_in

GO:0032288

myelin assembly

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:97631
PANTHER:PTN000072455

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1098726
PANTHER:PTN002369799
RGD:2552
RGD:621482
UniProtKB:P54849
UniProtKB:P54851
UniProtKB:P54852
UniProtKB:Q01453
WB:WBGene00000523
WB:WBGene00021415

C

Seeded From UniProt

complete

part_of

GO:0043218

compact myelin

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

C

Seeded From UniProt

complete

involved_in

GO:0042552

myelination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

P

Seeded From UniProt

complete

involved_in

GO:0030154

cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

C

Seeded From UniProt

complete

involved_in

GO:0010977

negative regulation of neuron projection development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

P

Seeded From UniProt

complete

part_of

GO:0005923

bicellular tight junction

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P25094
ensembl:ENSRNOP00000069909

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003936

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR004031
InterPro:IPR004032

C

Seeded From UniProt

complete

involved_in

GO:0007422

peripheral nervous system development

PMID:8275092[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007268

chemical synaptic transmission

PMID:8275092[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

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Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Wilson, HL et al. (2002) Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. J. Biol. Chem. 277 34017-23 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  3. ↑ 3.0 3.1 Roa, BB et al. (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat. Genet. 5 269-73 PubMed GONUTS page
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