NHLRC1 F33S [cytosol]

Stable Identifier
R-HSA-3797218
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
E3 ubiquitin-protein ligase NHLRC1 F33S, malin F33S, EMP2B F33S
NHLRC1 F33S [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy

Scherer, SW, Jovic, NJ, Chan, EM, Avanzini, G, Ackerley, CA, Delgado-Escueta, AV, Zhao, X, Young, EJ, Andermann, E, Bohlega, S, Rouleau, GA, Elia, M, Christopoulos, CC, Ianzano, L, Munteanu, I, Minassian, BA

Nat. Genet. 2003
External Reference Information
External Reference
Gene Names
NHLRC1, EPM2B
Chain
chain:1-395
Reference Transcript
Other Identifiers
11735452_at
11735453_at
17015972
2944022
2944023
2944024
378884
8124129
A_33_P3264116
GE541622
GO:0000209
GO:0001932
GO:0003824
GO:0004842
GO:0005515
GO:0005634
GO:0005654
GO:0005783
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0006914
GO:0010468
GO:0016567
GO:0016740
GO:0017148
GO:0030163
GO:0030371
GO:0031396
GO:0031398
GO:0034976
GO:0036211
GO:0043161
GO:0043170
GO:0043226
GO:0045182
GO:0046872
GO:0048471
GO:0061630
GO:0072659
GO:0140096
GO:1903076
HMNXSV003042853
ILMN_1796746
PH_hs_0016777
TC06001300.hg
Participates
Other forms of this molecule
Modified Residues
Name
L-phenylalanine 33 replaced with L-serine
Coordinate
33
PsiMod
A protein modification that effectively converts a source amino acid residue to L-serine.
A protein modification that effectively removes or replaces an L-phenylalanine.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
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