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, IPR017907, MIM:254780, MIM:608072, NHLRC1, NHLRC1-001, NM_198586, NP_940988, OTTHUMP00000016074, PF14634, PH_hs_0016777, R-HSA-1430728, R-HSA-1643685, R-HSA-3229121, R-HSA-3322077, R-HSA-3785653, R-HSA-5663084, R-HSA-5668914, R-HSA-70326, R-HSA-71387, SM00184, uc003ncl.2, UPI0000198CE1
Secondary Identifiers NHLC1_HUMAN, Q3SYB1, Q5VUK7, Q6IMH1
Gene Names NHLRC1, EPM2B
Chain chain:1-395
This entry is a component of:
Reference Genes
Database Identifier
dbSNP Gene 378884
CTD Gene 378884
BioGPS Gene 378884
NCBI Gene 378884
ENSEMBL ENSG00000187566
KEGG Gene 378884
Orphanet 16545
Reference Transcripts
Database Identifier
RefSeq NM_198586
Cross References
Database Identifier
RefSeq NP_940988
GeneCards Q6VVB1
UCSC human Q6VVB1
Name Identifier Synonyms
glycogen storage disease 2747 [glycogenosis]
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