Human Gene UBE2D1 (ENST00000373910.9) from GENCODE V44
  Description: Homo sapiens ubiquitin conjugating enzyme E2 D1 (UBE2D1), transcript variant 1, mRNA. (from RefSeq NM_003338)
RefSeq Summary (NM_003338): 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].
Gencode Transcript: ENST00000373910.9
Gencode Gene: ENSG00000072401.15
Transcript (Including UTRs)
   Position: hg38 chr10:58,335,006-58,370,748 Size: 35,743 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr10:58,335,202-58,368,765 Size: 33,564 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:58,335,006-58,370,748)mRNA (may differ from genome)Protein (147 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UB2D1_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 D1; EC=6.3.2.19; AltName: Full=Stimulator of Fe transport; Short=SFT; AltName: Full=UBC4/5 homolog; AltName: Full=UbcH5; AltName: Full=Ubiquitin carrier protein D1; AltName: Full=Ubiquitin-conjugating enzyme E2(17)KB 1; AltName: Full=Ubiquitin-conjugating enzyme E2-17 kDa 1; AltName: Full=Ubiquitin-protein ligase D1;
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.
CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with RNF11.
INTERACTION: Q9Y3C5:RNF11; NbExp=4; IntAct=EBI-743540, EBI-396669; Q9BV68:RNF126; NbExp=3; IntAct=EBI-743540, EBI-357322; Q9Y4K3:TRAF6; NbExp=2; IntAct=EBI-743540, EBI-359276; P98170:XIAP; NbExp=2; IntAct=EBI-743540, EBI-517127; Q8ND25:ZNRF1; NbExp=4; IntAct=EBI-743540, EBI-2129250;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous. Up-regulated in livers of iron- overloaded patients with hereditary hemochromatosis.
SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
CAUTION: PubMed:9362508 cloned and sequenced SFT which consisted of UBE2D1 last coding exon along with intronic sequences on the 5'-end of this exon. A function in iron transport has been described.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UBE2D1
Diseases sorted by gene-association score: hemochromatosis (8), hypoxia (5), ciliary body cancer (3), exophthalmos (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.39 RPKM in Muscle - Skeletal
Total median expression: 376.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.00196-0.408 Picture PostScript Text
3' UTR -401.001983-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000608 - UBQ-conjugat_E2
IPR023313 - UBQ-conjugating_AS
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF00179 - Ubiquitin-conjugating enzyme

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2C4P - X-ray MuPIT 2YHO - X-ray MuPIT 3OJ4 - X-ray MuPIT 3PTF - X-ray MuPIT 4AP4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P51668
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0061631 ubiquitin conjugating enzyme activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000209 protein polyubiquitination
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006625 protein targeting to peroxisome
GO:0016567 protein ubiquitination
GO:0016579 protein deubiquitination
GO:0030509 BMP signaling pathway
GO:0031145 anaphase-promoting complex-dependent catabolic process
GO:0031398 positive regulation of protein ubiquitination
GO:0070936 protein K48-linked ubiquitination
GO:1902916 positive regulation of protein polyubiquitination

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LP895195 - Sequence 59 from Patent EP3253886.
AK291901 - Homo sapiens cDNA FLJ77160 complete cds, highly similar to Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) (UBE2D1), mRNA.
BC005980 - Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast), mRNA (cDNA clone MGC:14673 IMAGE:4106710), complete cds.
BC015997 - Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast), mRNA (cDNA clone MGC:27216 IMAGE:4305900), complete cds.
JD141570 - Sequence 122594 from Patent EP1572962.
AJ272367 - Homo sapiens mRNA for ubiquitin-conjugating enzyme (UBCH5 gene).
AF257220 - Homo sapiens ubiquitin-conjugating enzyme (UBCH5) mRNA, complete cds.
JD269864 - Sequence 250888 from Patent EP1572962.
X78140 - H.sapiens UBCH5 mRNA for ubiquitin conjugating enzyme.
JD086134 - Sequence 67158 from Patent EP1572962.
AB590170 - Synthetic construct DNA, clone: pFN21AE1529, Homo sapiens UBE2D1 gene for ubiquitin-conjugating enzyme E2D 1, without stop codon, in Flexi system.
DQ896385 - Synthetic construct Homo sapiens clone IMAGE:100010845; FLH193838.01L; RZPDo839C0869D ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) (UBE2D1) gene, encodes complete protein.
DQ893111 - Synthetic construct clone IMAGE:100005741; FLH193842.01X; RZPDo839C0879D ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) (UBE2D1) gene, encodes complete protein.
KJ892341 - Synthetic construct Homo sapiens clone ccsbBroadEn_01735 UBE2D1 gene, encodes complete protein.
BT007041 - Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) mRNA, complete cds.
AF020761 - Homo sapiens unknown mRNA, sequence.
JD377104 - Sequence 358128 from Patent EP1572962.
JD504387 - Sequence 485411 from Patent EP1572962.
JD559362 - Sequence 540386 from Patent EP1572962.
JD369728 - Sequence 350752 from Patent EP1572962.
JD256172 - Sequence 237196 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

BioCyc Knowledge Library
PWY-7511 - protein ubiquitination

BioCarta from NCI Cancer Genome Anatomy Project
h_ErbB3Pathway - Neuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling

Reactome (by CSHL, EBI, and GO)

Protein P51668 (Reactome details) participates in the following event(s):

R-HSA-174119 Free APC/C phosphorylated by Plk1
R-HSA-174132 Free APC/C phosphorylated by Cyclin B:Cdc2
R-HSA-174139 Dissociation of phospho-Cdh1 from the APC/C complex
R-HSA-1234172 Nuclear VBC complex ubiquitinylates HIF-alpha
R-HSA-6783238 OTUB1,(OTUB2) binds TP53, UBE2D1, ESR1
R-HSA-141423 Binding of the MCC complex to the APC/C complex
R-HSA-174070 Association of Cdh1 with the APC/C
R-HSA-174224 Dissociation of Cdc20 from APC/C complex
R-HSA-1234163 Cytosolic VBC complex ubiquitinylates hydroxyprolyl-HIF-alpha
R-HSA-8953946 PEX2:PEX10:PEX12 monoubiquitinates PEX5S,L at cysteine-11
R-HSA-8956106 VHL:EloB,C:NEDD8-CUL2:RBX1 complex ubiquitinylates HIF-alpha
R-HSA-9033485 PEX2:PEX10:PEX12 monoubiquitinates PEX5L at cysteine-11
R-HSA-8852127 UBA6 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-8852129 UBA1 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-983152 Transfer of ubiquitin from E1 to E2
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-174057 Multiubiquitination of APC/C-associated Cdh1
R-HSA-188371 Association of Cyclin A:Cdk2 with Cdh1
R-HSA-3788708 CDKN1A (p21) prevents association of Cyclin A:Cdk2 with Cdh1
R-HSA-3788725 Cdh1:APC/C complex binds EHMT1:EHMT2
R-HSA-174171 Association of Cyclin A with the APC/C
R-HSA-174238 Activation of APC/C:Cdc20 by dissociation of Cdc20:phospho-APC/C from Cdc20:phospho-APC/C:Mad2:Bub3:BubR1
R-HSA-179410 Association of Nek2A with MCC:APC/C
R-HSA-174120 Association of Cyclin B:Cdc2 with Cdc20:APC/C complex
R-HSA-174121 Association of Securin with Cdc20:APC/C complex
R-HSA-174088 Association of cell cycle proteins with the APC/C:Cdh1 complex
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-8939323 RNF181 binds BCL10 and Ubiquitin:E2
R-HSA-8953917 PEX2:PEX10:PEX12 binds PEX5S,L (in PEX5S:PEX13:PEX14) and Ub:UBE2D1,2,3
R-HSA-9033527 PEX2:PEX10:PEX12 binds PEX5L (in PEX5L:PEX7:PEX13:PEX14:PEX2:PEX10:PEX12) and Ub:UBE2D1,2,3
R-HSA-174079 Phosphorylation of Cdh1 by Cyclin A:Cdk2
R-HSA-3788705 CDKN1A (p21) prevents phosphorylation of Cdh1 by Cyclin A:Cdk2
R-HSA-3788724 Cdh1:APC/C ubiquitinates EHMT1 and EHMT2
R-HSA-174104 Ubiquitination of Cyclin A by APC/C:Cdc20 complex
R-HSA-179417 Multiubiquitination of Nek2A
R-HSA-174227 Ubiquitination of Cyclin B by phospho-APC/C:Cdc20 complex
R-HSA-174144 Ubiquitination of Securin by phospho-APC/C:Cdc20 complex
R-HSA-174195 Ubiquitination of cell cycle proteins targeted by the APC/C:Cdh1complex
R-HSA-69015 Cytoplasmic phosphorylated Cdc6 is ubiquitinated by the anaphase-promoting complex
R-HSA-168915 K63-linked ubiquitination of RIP1 bound to the activated TLR complex
R-HSA-9014342 K63-linked ubiquitination of RIP1 bound to the activated TLR complex
R-HSA-176412 Phosphorylation of the APC/C
R-HSA-174084 Autodegradation of Cdh1 by Cdh1:APC/C
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase
R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-141430 Inactivation of APC/C via direct inhibition of the APC/C complex
R-HSA-176407 Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
R-HSA-8951664 Neddylation
R-HSA-202424 Downstream TCR signaling
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-176814 Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP)
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity
R-HSA-201451 Signaling by BMP
R-HSA-1234174 Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-5688426 Deubiquitination
R-HSA-174184 Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-176409 APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-179409 APC-Cdc20 mediated degradation of Nek2A
R-HSA-174048 APC/C:Cdc20 mediated degradation of Cyclin B
R-HSA-174154 APC/C:Cdc20 mediated degradation of Securin
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-174178 APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
R-HSA-141405 Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
R-HSA-8852135 Protein ubiquitination
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-202403 TCR signaling
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-2559583 Cellular Senescence
R-HSA-453276 Regulation of mitotic cell cycle
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-2262749 Cellular response to hypoxia
R-HSA-179419 APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
R-HSA-68882 Mitotic Anaphase
R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-1280218 Adaptive Immune System
R-HSA-168249 Innate Immune System
R-HSA-2262752 Cellular responses to stress
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-212436 Generic Transcription Pathway
R-HSA-162582 Signal Transduction
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69052 Switching of origins to a post-replicative state
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-168256 Immune System
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-1640170 Cell Cycle
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-68886 M Phase
R-HSA-69239 Synthesis of DNA
R-HSA-937041 IKK complex recruitment mediated by RIP1
R-HSA-168927 TICAM1, RIP1-mediated IKK complex recruitment
R-HSA-74160 Gene expression (Transcription)
R-HSA-69242 S Phase
R-HSA-69306 DNA Replication
R-HSA-937061 TRIF(TICAM1)-mediated TLR4 signaling
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade
R-HSA-166166 MyD88-independent TLR4 cascade
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLF6, A8K786, ENST00000373910.1, ENST00000373910.2, ENST00000373910.3, ENST00000373910.4, ENST00000373910.5, ENST00000373910.6, ENST00000373910.7, ENST00000373910.8, NM_003338, P51668, SFT, UB2D1_HUMAN, UBC5A, UBCH5, UBCH5A, uc001jke.1, uc001jke.2, uc001jke.3, uc001jke.4
UCSC ID: ENST00000373910.9
RefSeq Accession: NM_003338
Protein: P51668 (aka UB2D1_HUMAN or UB5A_HUMAN)
CCDS: CCDS7252.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.