Reactome: A Curated Pathway Database

NHLRC1 C26S (R-HSA-3797231) [Homo sapiens]

Reference Gene Product
Other forms of this molecule
Additional Information
External reference name NHLRC1
External reference id Q6VVB1
Synonyms E3 ubiquitin-protein ligase NHLRC1 C26S, malin C26S
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  HPA066030
 ILMN_1796746  IPR001841  IPR013017  IPR017907  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:
hasMember
Reference Genes
Database Identifier
dbSNP Gene 378884
CTD Gene 378884
BioGPS Gene 378884
NCBI Gene 378884
ENSEMBL ENSG00000187566
KEGG Gene NHLRC1
Orphanet 16545
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-cysteine 26 replaced with L-serine 26 L-cysteine removal 01635 A protein modification that effectively removes or replaces an L-cysteine.
Literature References
pubMedId Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy Nat. Genet. 2003
Interactions
Confidence Score Interactor Accession Interactor Name Evidences
0.725 O95278 EPM2A 7
0.499 Q9WUA5 EPM2A MOUSE 12