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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
NameNHLRC1 F33S
E3 ubiquitin-protein ligase NHLRC1 F33S
malin F33S
EMP2B F33S
Stable identifierREACT_266189.1
Links to corresponding entries in other databasesBioGPS Gene:378884
CTD Gene:378884
ENSEMBL:ENSG00000187566
GeneCards:Q6VVB1
HapMap:NM_198586
KEGG Gene:378884
NCBI Gene:378884
OMIM:254780
OMIM:608072
Orphanet:16545
PRO:Q6VVB1
RefSeq:NM_198586
RefSeq:NP_940988
UCSC human:Q6VVB1
UniProt:Q6VVB1
dbSNP Gene:378884
CLASSEntityWithAccessionedSequence
Other identifiers related to this sequenceNHLC1_HUMAN, Q3SYB1, Q5VUK7, Q6IMH1, 0001740398, 11735452_at, 11735453_at, 17015972, 2944022, 2944023, 2944024, 378884, 8124129, A_33_P3264116, AAI03889, AAI03890, AAI03891, AAQ19671, AL589723, AY324850, BC103888, BC103889, BC103890, BK001510, CAH71232, CCDS4542, DAA01954, ENSG00000187566, ENSP00000345464, ENST00000340650, EntrezGene:378884, GE541622, HGNC:21576, Hs.348351, ILMN_1796746, IPR001841, IPR013017, MIM:254780, MIM:608072, NHLRC1, NHLRC1-001, NM_198586, NP_940988, OTTHUMP00000016074, PH_hs_0016777, SM00184, TC06001300.hg, uc003ncl.1, UPI0000198CE1
Reference entityUniProt:Q6VVB1 NHLRC1
Coordinates in the reference sequence1 .. 395
Post-translational modification(s)L-phenylalanine 33 replaced with L-serine
Cellular compartmentcytosol GO
OrganismHomo sapiens
Is represented by generalisation(s)NHLRC1 mutants [cytosol]
Other forms of this moleculeNHLRC1 [cytosol] UKENBCdOOORHPGUR
NHLRC1 C26S [cytosol] UKENBCdOOORHPGUR
References

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 Mutations in NHLRC1 cause progressive myoclonus epilepsy 2003 Nat. Genet. PubMed

REACT_266189