Reactome: A Curated Pathway Database

NHLRC1 C26S

Stable Identifier
R-HSA-3797231
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
E3 ubiquitin-protein ligase NHLRC1 C26S, malin C26S, EMP2B C26S
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
External Reference Information
External Reference
Gene Names
NHLRC1, EPM2B
Chain
chain:1-395
Reference Genes
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 Coordinate Modification PsiMod
L-cysteine 26 replaced with L-serine 26
L-serine residue [MOD:00025] A protein modification that effectively converts a source amino acid residue to L-serine.
L-cysteine removal [MOD:01635] A protein modification that effectively removes or replaces an L-cysteine.
Disease
Diseases
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