Reactome: A Curated Pathway Database

NHLRC1 F33S (R-HSA-3797218)

Species Homo sapiens

Other forms of this molecule

Additional Information
External reference name NHLRC1
External reference id Q6VVB1
Synonyms E3 ubiquitin-protein ligase NHLRC1 F33S, malin F33S
Compartment cytosol
Other Identifiers 0001740398, 11735452_at, 11735453_at, 378884, A_33_P3264116, AAI03889, AAI03890, AAI03891, AAQ19671, AL589723, AY324850, BC103888, BC103889, BC103890, BK001510, CAH71232, CCDS4542, DAA01954, ENSG00000187566, ENSP00000345464, ENST00000340650, EntrezGene:378884, GE541622, HGNC:21576, ILMN_1796746, IPR001841, IPR013017, MIM:254780, MIM:608072, NHLRC1, NHLRC1-001, NM_198586, NP_940988, OTTHUMP00000016074, PH_hs_0016777, REACT_111217, REACT_116125, REACT_169208, REACT_264090, REACT_264430, REACT_474, REACT_723, SM00184, uc003ncl.1, UPI0000198CE1
Secondary Identifiers NHLC1_HUMAN, Q3SYB1, Q5VUK7, Q6IMH1
Gene Names NHLRC1, EPM2B
Chain chain:1-395
This entry is a component of:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 378884
CTD Gene 378884
BioGPS Gene 378884
NCBI Gene 378884
ENSEMBL ENSG00000187566
KEGG Gene 378884
Orphanet 16545
OMIM 254780
Reference Transcripts
Database Identifier
RefSeq NM_198586
Cross References
Database Identifier
RefSeq NP_940988
PRO Q6VVB1
GeneCards Q6VVB1
UCSC human Q6VVB1
Diseases
Name Identifier Synonyms
glycogen storage disease 2747 [glycogenosis]
ModifiedResidues
Name Coordinate Modification PsiMod Name PsiMod Identifier PsiMod Definition
L-phenylalanine 33 replaced with L-serine 33 L-phenylalanine removal 01644 A protein modification that effectively removes or replaces an L-phenylalanine.
Literature References
pubMedId Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy Nat. Genet. 2003