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Aliases for UBE2D1 Gene

Aliases for UBE2D1 Gene

  • Ubiquitin Conjugating Enzyme E2 D1 2 3 5
  • Stimulator Of Fe Transport 2 3 4
  • Ubiquitin-Conjugating Enzyme E2D 1 (UBC4/5 Homolog, Yeast) 2 3
  • (E3-Independent) E2 Ubiquitin-Conjugating Enzyme D1 3 4
  • Ubiquitin-Conjugating Enzyme E2-17 KDa 1 3 4
  • Ubiquitin-Conjugating Enzyme E2(17)KB 1 3 4
  • E2 Ubiquitin-Conjugating Enzyme D1 3 4
  • Ubiquitin Carrier Protein D1 3 4
  • Ubiquitin-Protein Ligase D1 3 4
  • UBC4/5 Homolog 3 4
  • UBCH5A 3 4
  • UBCH5 3 4
  • SFT 3 4
  • Ubiquitin-Conjugating Enzyme E2D 1 2
  • Ubiquitin Conjugating Enzyme E2D 1 3
  • Ubiquitin-Conjugating Enzyme E2 D1 3
  • EC 6.3.2.19 58
  • EC 2.3.2.23 4
  • EC 2.3.2.24 4
  • E2(17)KB1 3
  • UBC4/5 3
  • UBC5A 4

External Ids for UBE2D1 Gene

Previous HGNC Symbols for UBE2D1 Gene

  • SFT

Previous GeneCards Identifiers for UBE2D1 Gene

  • GC10P058890
  • GC10P059120
  • GC10P059987
  • GC10P059439
  • GC10P059764
  • GC10P060094
  • GC10P054083

Summaries for UBE2D1 Gene

Entrez Gene Summary for UBE2D1 Gene

  • The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for UBE2D1 Gene

UBE2D1 (Ubiquitin Conjugating Enzyme E2 D1) is a Protein Coding gene. Diseases associated with UBE2D1 include Hemochromatosis and Hypoxia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Ovarian tumor domain proteases. GO annotations related to this gene include ligase activity and acid-amino acid ligase activity. An important paralog of this gene is UBE2D2.

UniProtKB/Swiss-Prot for UBE2D1 Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-48-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubiquitination of CYP3A4.

Gene Wiki entry for UBE2D1 Gene

Additional gene information for UBE2D1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2D1 Gene

Genomics for UBE2D1 Gene

Regulatory Elements for UBE2D1 Gene

Enhancers for UBE2D1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H058264 1.8 FANTOM5 ENCODE dbSUPER 17.6 -67.3 -67296 6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CISD1 UBE2D1 TFAM IPMK TPT1P10
GH10H058280 1.3 Ensembl ENCODE dbSUPER 10.8 -53.3 -53284 3 JUN CEBPG BATF FOSL1 GATA3 POLR2A EED ATF7 NFE2 FOS CISD1 TFAM UBE2D1 GC10P058299
GH10H058322 1.5 FANTOM5 Ensembl ENCODE 8.3 -12.1 -12115 1 ELF3 FOXA2 INSM2 FEZF1 DMAP1 THRB RARA ZNF766 ETV6 RUNX3 CISD1 IPMK TFAM UBE2D1 ENSG00000261076 ENSG00000228527
GH10H058274 1.1 Ensembl ENCODE dbSUPER 10.8 -59.7 -59716 2 BCOR ZNF121 ZNF316 JUND EMSY MAFK NR2F2 CISD1 TFAM UBE2D1 GC10P058299
GH10H058383 1.1 ENCODE 7.9 +50.4 50439 3 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TFAM UBE2D1 LOC105378316
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBE2D1 on UCSC Golden Path with GeneCards custom track

Promoters for UBE2D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000028293 425 1601 ATF1 ZNF133 ARID4B SIN3A ETS1 GLIS2 ZNF143 FOS KLF7 ATF7

Genomic Location for UBE2D1 Gene

Chromosome:
10
Start:
58,334,975 bp from pter
End:
58,370,753 bp from pter
Size:
35,779 bases
Orientation:
Plus strand

Genomic View for UBE2D1 Gene

Genes around UBE2D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2D1 Gene

Proteins for UBE2D1 Gene

  • Protein details for UBE2D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51668-UB2D1_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 D1
    Protein Accession:
    P51668
    Secondary Accessions:
    • A6NLF6
    • A8K786

    Protein attributes for UBE2D1 Gene

    Size:
    147 amino acids
    Molecular mass:
    16602 Da
    Quaternary structure:
    • Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with RNF11.

    Three dimensional structures from OCA and Proteopedia for UBE2D1 Gene

neXtProt entry for UBE2D1 Gene

Selected DME Specific Peptides for UBE2D1 Gene

P51668:
  • CSAGPVG
  • DPNPDDPLVP
  • NSNGSICLDIL
  • YPFKPPK
  • YQGGVFFLT
  • HPNINSNG
  • QWSPALT
  • SLLCDPNP
  • TKIYHPN
  • WQATIMGP

Post-translational modifications for UBE2D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UBE2D1 Gene

Antibody Products

Domains & Families for UBE2D1 Gene

Gene Families for UBE2D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UBE2D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51668

UniProtKB/Swiss-Prot:

UB2D1_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2D1: view

Function for UBE2D1 Gene

Molecular function for UBE2D1 Gene

GENATLAS Biochemistry:
ubiquitin conjugating enzyme E2D1,homologous to yeast UBC4/5,involved in the degradation of cellular proteins,mediating the E6-AP dependent ubiquitination of p53
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-48-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubiquitination of CYP3A4.

Enzyme Numbers (IUBMB) for UBE2D1 Gene

Phenotypes From GWAS Catalog for UBE2D1 Gene

Gene Ontology (GO) - Molecular Function for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UBE2D1: view
genes like me logo Genes that share phenotypes with UBE2D1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for UBE2D1

CRISPR Products

miRNA for UBE2D1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBE2D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBE2D1 Gene

Localization for UBE2D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2D1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE2D1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 15247280
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 18845142
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 22797923
genes like me logo Genes that share ontologies with UBE2D1: view

Pathways & Interactions for UBE2D1 Gene

SuperPathways for UBE2D1 Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
2 Activated TLR4 signalling
3 APC-Cdc20 mediated degradation of Nek2A
4 Protein ubiquitination
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with UBE2D1: view

UniProtKB/Swiss-Prot P51668-UB2D1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0000209 protein polyubiquitination IDA 15247280
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006511 ubiquitin-dependent protein catabolic process TAS,IDA 16275645
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with UBE2D1: view

No data available for SIGNOR curated interactions for UBE2D1 Gene

Drugs & Compounds for UBE2D1 Gene

(3) Drugs for UBE2D1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(2) Additional Compounds for UBE2D1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBE2D1: view

Transcripts for UBE2D1 Gene

Unigene Clusters for UBE2D1 Gene

Ubiquitin-conjugating enzyme E2D 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBE2D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2D1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for UBE2D1 Gene

GeneLoc Exon Structure for
UBE2D1
ECgene alternative splicing isoforms for
UBE2D1

Expression for UBE2D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE2D1 Gene

mRNA differential expression in normal tissues according to GTEx for UBE2D1 Gene

This gene is overexpressed in Whole Blood (x7.6) and Muscle - Skeletal (x6.8).

Protein differential expression in normal tissues from HIPED for UBE2D1 Gene

This gene is overexpressed in Liver (11.9), Breast (10.3), and Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UBE2D1 Gene



NURSA nuclear receptor signaling pathways regulating expression of UBE2D1 Gene:

UBE2D1

SOURCE GeneReport for Unigene cluster for UBE2D1 Gene:

Hs.129683

mRNA Expression by UniProt/SwissProt for UBE2D1 Gene:

P51668-UB2D1_HUMAN
Tissue specificity: Ubiquitous. Up-regulated in livers of iron-overloaded patients with hereditary hemochromatosis.

Evidence on tissue expression from TISSUES for UBE2D1 Gene

  • Muscle(4.5)
  • Bone marrow(4.3)
  • Skin(4.3)
  • Blood(2.4)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with UBE2D1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2D1 Gene

Orthologs for UBE2D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE2D1 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBE2D1 33 34
  • 97.28 (n)
cow
(Bos Taurus)
Mammalia UBE2D1 33 34
  • 96.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2D1 34
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube2d1 33 16 34
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE2D1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube2d1 33
  • 87.76 (n)
chicken
(Gallus gallus)
Aves UBE2D1 33 34
  • 89.8 (n)
lizard
(Anolis carolinensis)
Reptilia UBE2D1 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube2d1 33
  • 85.26 (n)
Str.6470 33
zebrafish
(Danio rerio)
Actinopterygii ube2d1b 33 34
  • 81.63 (n)
wufc16h06 33
fruit fly
(Drosophila melanogaster)
Insecta eff 35
  • 89 (a)
CG10862 35
  • 52 (a)
CG2574 35
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea let-70 35
  • 89 (a)
F52C6.12 34
  • 68 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UBC29 33
  • 66.21 (n)
rice
(Oryza sativa)
Liliopsida Os01g0658400 33
  • 68.25 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3943 33
Species where no ortholog for UBE2D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE2D1 Gene

ENSEMBL:
Gene Tree for UBE2D1 (if available)
TreeFam:
Gene Tree for UBE2D1 (if available)

Paralogs for UBE2D1 Gene

Paralogs for UBE2D1 Gene

genes like me logo Genes that share paralogs with UBE2D1: view

Variants for UBE2D1 Gene

Sequence variations from dbSNP and Humsavar for UBE2D1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000118514 -- 58,354,695(+) CTGGG(C/T)GTGGT intron-variant
rs1000154180 -- 58,336,384(+) CAATA(A/G)TATAT intron-variant
rs1000238981 -- 58,362,050(+) CTAAA(C/T)ACAAA intron-variant
rs1000437565 -- 58,369,975(+) TAATT(A/G)ACATT utr-variant-3-prime
rs1000501956 -- 58,349,078(+) GAACT(A/C)GAATA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UBE2D1 Gene

Variant ID Type Subtype PubMed ID
esv3546365 CNV deletion 23714750

Variation tolerance for UBE2D1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE2D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2D1 Gene

Disorders for UBE2D1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBE2D1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis
  • hfe hemochromatosis, modifier of
hypoxia
ciliary body cancer
  • malignant neoplasm of ciliary body
exophthalmos
  • proptosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UBE2D1

Genetic Association Database (GAD)
UBE2D1
Human Genome Epidemiology (HuGE) Navigator
UBE2D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE2D1
genes like me logo Genes that share disorders with UBE2D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2D1 Gene

Publications for UBE2D1 Gene

  1. Two different classes of E2 ubiquitin-conjugating enzymes are required for the mono-ubiquitination of proteins and elongation by polyubiquitin chains with a specific topology. (PMID: 18042044) Windheim M … Cohen P (The Biochemical journal 2008) 3 4 22 60
  2. UbcH5A, a member of human E2 ubiquitin-conjugating enzymes, is closely related to SFT, a stimulator of iron transport, and is up-regulated in hereditary hemochromatosis. (PMID: 12480712) Gehrke SG … Stremmel W (Blood 2003) 3 4 22 60
  3. The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor. (PMID: 21685362) Zhang L … Schwabe JW (Genes & development 2011) 3 4 60
  4. Insights into the conformational dynamics of the E3 ubiquitin ligase CHIP in complex with chaperones and E2 enzymes. (PMID: 20146531) Graf C … Mayer MP (Biochemistry 2010) 3 22 60
  5. The E2 ubiquitin-conjugating enzymes direct polyubiquitination to preferred lysines. (PMID: 20061386) David Y … Navon A (The Journal of biological chemistry 2010) 3 4 60

Products for UBE2D1 Gene

Sources for UBE2D1 Gene

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