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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046346
UUCD1 version UUC-HoS-00175
Ensembl Protein ID ENSP00000345464.3
UniProt Accession Q6VVB1; Q3SYB1; Q5VUK7; Q6IMH1; NHLC1_HUMAN
Genbank Protein ID AAQ19671.1; AAI03889.1; AAI03890.1; AAI03891.1; DAA01954.1
Protein Name E3 ubiquitin-protein ligase NHLRC1; Malin; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1
Genbank Nucleotide ID AY324850; AL589723; BC103889; BC103890; BK001510
Gene Name NHLRC1; EPM2B
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000187566.4 ENST00000340650.4 ENSP00000345464.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICHPM
DNA & RNA Element
AREsitemicroRNATRANSFACTargetScan
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Disease-associated Information
ClinVarOMIM
Post-translational Modifications (PTMs)
dbPAFPhosphositePlusBioGRID
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/RING RING 19529779; 19171932
Classification
Family E-value Score Start End
E3 activity/RING/RING 0.0027 19.9 26 72
E3 adaptor/Cullin RING/DCX/DWD 0.1 14.7 182 202
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/RING
   S: 1    CaiCledf....kdgplvlpCgHvfhadClqkwpglknssskefrCPlCr 46
           C +C+e f    ++ p+ l+CgHv ++ C+ ++  ++     +  CP Cr
   Q: 26   CKVCFEKFghrqQRRPRNLSCGHVVCLACVAAL-AHP--RTLALECPFCR 72
           99******9999555**************9777.444..899999****8 PP
   

   E3 adaptor/Cullin RING/DCX/DWD
   S: 11   f.sd.tllvsGsdDgtikvWD 29
             +d + +v+ ++D +ikv+D
   Q: 182  ItNDcHVVVTDAGDRSIKVFD 202
           26776778************* PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.
 E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.
Protein Sequence
(Fasta)
MAAEASESGP ALHELMREAE ISLLECKVCF EKFGHRQQRR PRNLSCGHVV CLACVAALAH 60
PRTLALECPF CRRACRGCDT SDCLPVLHLI ELLGSALRQS PAAHRAAPSA PGALTCHHTF 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046346|E3,RING;E3,WD_repeat|Homo sapiens
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Nucleotide Sequence
(Fasta)
ATGGCGGCCG AAGCCTCGGA GAGCGGGCCA GCGCTGCATG AGCTCATGCG CGAGGCGGAG 60
ATCAGCCTGC TCGAGTGCAA GGTGTGCTTT GAGAAGTTTG GCCACCGGCA GCAGCGGCGC 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046346|E3,RING;E3,WD_repeat|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0072--Autophagy
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-0256--Endoplasmic reticulum
KW-0887--Epilepsy
KW-0479--Metal-binding
KW-0539--Nucleus
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0808--Transferase
KW-0833--Ubl conjugation pathway
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR011042--6-blade_b-propeller_TolB-like
IPR013017--NHL_repeat_subgr
IPR001841--Znf_RING
IPR013083--Znf_RING/FYVE/PHD
IPR017907--Znf_RING_CS
PROSITE

PS51125--NHL
PS00518--ZF_RING_1
PS50089--ZF_RING_2
Pfam

PF14634--zf-RING_5
SMART

SM00184--RING
Gene Ontology

GO:0005829--C:cytosol
GO:0005783--C:endoplasmic reticulum
GO:0005634--C:nucleus
GO:0048471--C:perinuclear region of cytoplasm
GO:0061630--F:ubiquitin protein ligase activity
GO:0004842--F:ubiquitin-protein transferase activity
GO:0008270--F:zinc ion binding
GO:0006914--P:autophagy
GO:0005978--P:glycogen biosynthetic process
GO:0031398--P:positive regulation of protein ubiquitination
GO:0043161--P:proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0000209--P:protein polyubiquitination
KEGG hsa:378884
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Apl-003482 Anas platyrhynchos 50.25 6.00e-60 223.00
IUUC-Aca-004781 Anolis carolinensis 55.03 8.00e-133 466.00
IUUC-Ame-011442 Astyanax mexicanus 42.58 3.00e-80 292.00
IUUC-Bta-013205 Bos taurus 87.37 0.00e+00 650.00
IUUC-Cfa-020810 Canis familiaris 88.16 6.00e-174 603.00
IUUC-Cpo-022053 Cavia porcellus 76.34 1.00e-125 442.00
IUUC-Csa-023522 Chlorocebus sabaeus 97.97 0.00e+00 703.00
IUUC-Dno-029008 Dasypus novemcinctus 80.76 2.00e-168 585.00
IUUC-Ete-032878 Echinops telfairi 80.12 2.00e-47 183.00
IUUC-Eca-034419 Equus caballus 90.56 0.00e+00 653.00
IUUC-Eeu-034990 Erinaceus europaeus 79.70 5.00e-168 583.00
IUUC-Fca-035755 Felis catus 90.03 0.00e+00 665.00
IUUC-Fal-036689 Ficedula albicollis 58.46 2.00e-42 164.00
IUUC-Fox-037671 Fusarium oxysporum 43.86 4.00e-06 45.10
IUUC-Gmo-038749 Gadus morhua 39.80 2.00e-65 243.00
IUUC-Gga-040860 Gallus gallus 53.42 4.00e-102 364.00
IUUC-Gac-041602 Gasterosteus aculeatus 41.75 4.00e-75 275.00
IUUC-Ggo-044705 Gorilla gorilla 96.20 0.00e+00 712.00
IUUC-Itr-048387 Ictidomys tridecemlineatus 85.93 8.00e-180 622.00
IUUC-Lch-049978 Latimeria chalumnae 46.63 4.00e-100 358.00
IUUC-Loc-051893 Lepisosteus oculatus 47.63 8.00e-93 333.00
IUUC-Mcc-054648 Macaca mulatta 98.23 0.00e+00 707.00
IUUC-Meu-056176 Macropus eugenii 67.26 3.00e-144 504.00
IUUC-Mvi-060410 Microbotryum violaceum 32.39 1.30e-02 34.70
IUUC-Mmr-061462 Microcebus murinus 92.15 0.00e+00 653.00
IUUC-Mdo-062329 Monodelphis domestica 68.16 5.00e-156 543.00
IUUC-Mmu-063514 Mus musculus 83.55 3.00e-171 594.00
IUUC-Mac-064583 Musa acuminata 25.81 6.80e-02 33.10
IUUC-Mpu-066828 Mustela putorius furo 88.13 1.00e-177 615.00
IUUC-Nle-069194 Nomascus leucogenys 98.48 0.00e+00 736.00
IUUC-Opr-070547 Ochotona princeps 83.46 8.00e-179 619.00
IUUC-Ont-071588 Oreochromis niloticus 40.98 1.00e-72 267.00
IUUC-Oan-073550 Ornithorhynchus anatinus 53.40 2.00e-106 379.00
IUUC-Ocu-074699 Oryctolagus cuniculus 83.42 0.00e+00 631.00
IUUC-Ola-087036 Oryzias latipes 42.06 5.00e-77 281.00
IUUC-Oga-088924 Otolemur garnettii 91.39 0.00e+00 653.00
IUUC-Oar-089939 Ovis aries 82.26 3.00e-117 414.00
IUUC-Ptr-091431 Pan troglodytes 100.00 0.00e+00 721.00
IUUC-Pan-092496 Papio anubis 97.72 0.00e+00 704.00
IUUC-Psi-094079 Pelodiscus sinensis 57.39 6.00e-134 470.00
IUUC-Pab-097605 Pongo abelii 99.24 0.00e+00 714.00
IUUC-Pca-100676 Procavia capensis 79.50 2.00e-178 618.00
IUUC-Pva-102804 Pteropus vampyrus 90.13 0.00e+00 682.00
IUUC-Rno-104999 Rattus norvegicus 83.59 1.00e-173 602.00
IUUC-Sha-107067 Sarcophilus harrisii 68.00 3.00e-150 525.00
IUUC-Tgu-116560 Taeniopygia guttata 51.43 1.00e-40 158.00
IUUC-Tru-117560 Takifugu rubripes 40.67 5.00e-61 228.00
IUUC-Tni-120569 Tetraodon nigroviridis 40.99 1.00e-72 266.00
IUUC-Ttr-129122 Tursiops truncatus 90.38 0.00e+00 648.00
IUUC-Xtr-132226 Xenopus tropicalis 45.71 2.00e-105 375.00
Created Date 25-Jun-2017

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