NHLRC1 C26S [cytosol]

Stable Identifier
R-HSA-3797231
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
E3 ubiquitin-protein ligase NHLRC1 C26S, malin C26S, EMP2B C26S
Icon
NHLRC1 C26S [cytosol] icon
NHLRC1 C26S [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy

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

Nat. Genet. 2003
External Reference Information
External Reference
UniProt:Q6VVB1 NHLRC1
Gene Names
NHLRC1, EPM2B
Chain
chain:1-395
Reference Genes
BioGPS Gene:378884 NHLRC1
COSMIC (genes):NHLRC1 NHLRC1
CTD Gene:378884 NHLRC1
dbSNP Gene:378884 NHLRC1
ENSEMBL:ENSG00000187566 NHLRC1
HGNC:21576 NHLRC1
KEGG:hsa:378884 NHLRC1
Monarch:378884 NHLRC1
NCBI Gene:378884 NHLRC1
OMIM:608072 NHLRC1
UCSC:Q6VVB1 NHLRC1
Reference Transcript
Other Identifiers
11735452_at
11735453_at
17015972
2944022
2944023
2944024
378884
8124129
A_33_P3264116
GE541622
GO:0000209
GO:0003824
GO:0004842
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005783
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006914
GO:0008270
GO:0010468
GO:0016567
GO:0016740
GO:0030163
GO:0031396
GO:0031398
GO:0034976
GO:0043161
GO:0046872
GO:0048471
GO:0061630
GO:0140096
GO:1903076
HMNXSV003042853
ILMN_1796746
PH_hs_0016777
TC06001300.hg
Participates
as a member of
Other forms of this molecule
NHLRC1 F33S [cytosol]
NHLRC1 [cytosol]
Modified Residues
Name
L-cysteine 26 replaced with L-serine
Coordinate
26
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
RefSeq
ENSEMBL
OpenTargets
Mondo
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
Interactors (2)
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