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NHLRC1 F33S

Stable Identifier
R-HSA-3797218
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
E3 ubiquitin-protein ligase NHLRC1 F33S, malin F33S, EMP2B F33S
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
12958597 Mutations in NHLRC1 cause progressive myoclonus epilepsy Nat. Genet. 2003
External Reference Information
External Reference
Gene Names
NHLRC1, EPM2B
Chain
chain:1-395
Reference Transcript
Other Identifiers
0001740398
11735452_at
11735453_at
17015972
2944022
2944023
2944024
378884
66030
8124129
A_33_P3264116
AAI03889
AAI03890
AAI03891
AAQ19671
AL589723
AY324850
BC103888
BC103889
BC103890
BK001510
CCDS4542
DAA01954
ENSG00000187566
ENSP00000345464
ENST00000340650
EntrezGene:378884
GE541622
GO:0000209
GO:0003674
GO:0004842
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005783
GO:0005829
GO:0005975
GO:0005978
GO:0006091
GO:0006464
GO:0006914
GO:0008150
GO:0008270
GO:0009056
GO:0009058
GO:0016567
GO:0016740
GO:0031398
GO:0043161
GO:0043167
GO:0043226
GO:0046872
GO:0048471
GO:0061630
HGNC:21576
HPA066030
Hs.348351
ILMN_1796746
IPR001841
IPR011042
IPR013017
IPR013083
IPR017907
MIM:254780
MIM:608072
NHLRC1
NHLRC1-201
NM_198586
NP_940988
PF14634
PH_hs_0016777
SM00184
TC06001300.hg
uc003ncl.2
UPI0000198CE1
Participant Of
Other forms of this molecule
Modified Residues
Name
L-phenylalanine 33 replaced with L-serine
Coordinate
33
PsiMod HEY
A protein modification that effectively removes or replaces an L-phenylalanine.
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
Cross References
RefSeq
UCSC human
GeneCards
PRO
Orphanet
Interactors
Confidence Score Interactor Accession Interactor Name Evidence (IntAct)
0.725 O95278 EPM2A_HUMAN 7
0.499 Q9WUA5 EPM2A_MOUSE 12