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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Class:IdReferenceGeneProduct:151042
_displayNameUniProt:Q6VVB1 NHLRC1
_timestamp2014-09-22 14:23:08
checksum3E8339D00165FBED
commentPATHWAY Protein modification; protein ubiquitination.SIMILARITY Contains 6 NHL repeats.SIMILARITY Contains 1 RING-type zinc finger.
created[InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10
crossReference[DatabaseIdentifier:6599456] PRO:Q6VVB1
[DatabaseIdentifier:6623726] GeneCards:Q6VVB1
[DatabaseIdentifier:6647914] UCSC human:Q6VVB1
[DatabaseIdentifier:6658707] RefSeq:NP_940988
descriptionrecommendedName: E3 ubiquitin-protein ligase NHLRC1 ecNumber6.3.2.-/ecNumber alternativeName: Malin alternativeName: NHL repeat-containing protein 1
geneNameNHLRC1
EPM2B
identifierQ6VVB1
isSequenceChangedFALSE
keywordAutophagy
Complete proteome
Disease mutation
Endoplasmic reticulum
Epilepsy
Ligase
Metal-binding
Nucleus
Polymorphism
Reference proteome
Repeat
Ubl conjugation pathway
Zinc
Zinc-finger
modified[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
[InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12
[InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39
[InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18
[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
[InstanceEdit:423310] Kanapin, AA
[InstanceEdit:435478] Kanapin, AA
[InstanceEdit:435871] Kanapin, AA
[InstanceEdit:447347] Kanapin, AA
[InstanceEdit:525883] Kanapin, AA
[InstanceEdit:613449] Kanapin, AA
[InstanceEdit:797602] Kanapin, AA
[InstanceEdit:937368] Yung, CK
[InstanceEdit:1042053] Yung, CK
[InstanceEdit:1220657] Yung, CK
[InstanceEdit:1300696] Yung, CK
[InstanceEdit:1301627] Yung, CK
[InstanceEdit:1551960] Weiser, JD
[InstanceEdit:1995863] Weiser, JD
[InstanceEdit:2132304] Weiser, JD
[InstanceEdit:2265580] Weiser, JD
[InstanceEdit:3445779] Weiser, JD
[InstanceEdit:4341137] Weiser, JD
[InstanceEdit:5433710] Weiser, JD
[InstanceEdit:5618415] Weiser, JD
[InstanceEdit:6348050] Croft, D
[InstanceEdit:6379983] Croft, D
[InstanceEdit:6413044] Croft, D
[InstanceEdit:6446105] Croft, D
[InstanceEdit:6479166] Croft, D
[InstanceEdit:6512227] Croft, D
[InstanceEdit:6618954] Croft, D
[InstanceEdit:6636231] Croft, D
[InstanceEdit:6643142] Croft, D
[InstanceEdit:6650745] Croft, D
[InstanceEdit:6682804] Croft, D
[InstanceEdit:6698332] Croft, D
nameNHLRC1
otherIdentifier17015972
A_33_P3264116
NHLRC1
IPR001841
ENSG00000187566
CCDS4542
BK001510
ENSP00000345464
8124129
EntrezGene:378884
AAI03890
AL589723
HGNC:21576
BC103889
11735452_at
2944023
2944024
DAA01954
MIM:608072
uc003ncl.1
ILMN_1796746
SM00184
Hs.348351
AAQ19671
CAH71232
NHLRC1-001
2944022
AY324850
NM_198586
11735453_at
UPI0000198CE1
PH_hs_0016777
12958597
AAI03889
OTTHUMP00000016074
AAI03891
GE541622
BC103890
MIM:254780
NP_940988
0001740398
378884
IPR013017
BC103888
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:6705209] KEGG Gene:378884 NHL repeat containing E3 ubiquitin protein ligase 1 [Homo sapiens]
[ReferenceDNASequence:6355756] ENSEMBL:ENSG00000187566 [Homo sapiens]
[ReferenceDNASequence:6387689] NCBI Gene:378884 [Homo sapiens]
[ReferenceDNASequence:6434812] BioGPS Gene:378884 [Homo sapiens]
[ReferenceDNASequence:6467873] CTD Gene:378884 [Homo sapiens]
[ReferenceDNASequence:6500934] dbSNP Gene:378884 [Homo sapiens]
[ReferenceDNASequence:6636277] OMIM:254780 [Homo sapiens]
[ReferenceDNASequence:6641868] OMIM:608072 [Homo sapiens]
[ReferenceDNASequence:6722873] Orphanet:16545 [Homo sapiens]
referenceTranscript[ReferenceRNASequence:6695374] RefSeq:NM_198586
secondaryIdentifierNHLC1_HUMAN
Q3SYB1
Q5VUK7
Q6IMH1
sequenceLength395
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:3781020] NHLRC1 [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797218] NHLRC1 F33S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797231] NHLRC1 C26S [cytosol] [Homo sapiens]
(referenceSequence)[ReplacedResidue:3797227] L-phenylalanine 33 replaced with L-serine
[ReplacedResidue:3797229] L-cysteine 26 replaced with L-serine
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