Human Gene RFWD3 (uc002fda.3) Description and Page Index
  Description: Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:74,655,297-74,700,779 Size: 45,483 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr16:74,657,826-74,695,347 Size: 37,522 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:74,655,297-74,700,779)mRNA (may differ from genome)Protein (774 aa)
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-  Comments and Description Text from UniProtKB
  ID: RFWD3_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase RFWD3; EC=6.3.2.-; AltName: Full=RING finger and WD repeat domain-containing protein 3; AltName: Full=RING finger protein 201;
FUNCTION: E3 ubiquitin-protein ligase that mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint. May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53. Plays a role in RPA-mediated DNA damage signaling and repair.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with MDM2 and p53/TP53. Binds to the RPA complex via direct interaction with RPA2.
SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body. Cytoplasm. Note=In undamaged cells, found both in the cytoplasm and in the nucleus, partially associated with PML nuclear bodies. In response to replication block, such as that caused by hydroxyurea treatment, or to DNA damage caused by ionizing radiations or doxorubicin, recruited to the nucleus, to stalled replication forks or to sites of DNA repair. This recruitment depends upon RPA2.
DEVELOPMENTAL STAGE: Up-regulated in the S-G2 phase.
DOMAIN: The coiled coil domain may be involved in RPA2-binding.
PTM: Phosphorylated at Ser-46 and Ser-63 upon DNA damage by ATM or ATR. ATM phosphorylation occurs at early times upon DNA damage, while ATR is the major kinase at later times. Phosphorylation by ATM and ATR is required to stabilize p53/TP53. Part of the phosphorylation depends upon RPA2 presence.
SIMILARITY: Contains 1 RING-type zinc finger.
SIMILARITY: Contains 3 WD repeats.
SEQUENCE CAUTION: Sequence=BAA91662.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF83889.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG38132.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RFWD3
CDC HuGE Published Literature: RFWD3

-  MalaCards Disease Associations
  MalaCards Gene Search: RFWD3
Diseases sorted by gene-association score: fanconi anemia, complementation group a (1)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.73 RPKM in Testis
Total median expression: 193.29 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.4098-0.412 Picture PostScript Text
3' UTR -773.602529-0.306 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
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF13445 - RING-type zinc-finger
PF13639 - Ring finger domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
101898 - NHL repeat
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q6PCD5
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002039 p53 binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0097371 MDM2/MDM4 family protein binding

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0010212 response to ionizing radiation
GO:0016567 protein ubiquitination
GO:0031297 replication fork processing
GO:0031571 mitotic G1 DNA damage checkpoint
GO:0036297 interstrand cross-link repair
GO:2000001 regulation of DNA damage checkpoint

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016605 PML body
GO:0035861 site of double-strand break


-  Descriptions from all associated GenBank mRNAs
  AK022673 - Homo sapiens cDNA FLJ12611 fis, clone NT2RM4001569.
BC002574 - Homo sapiens ring finger and WD repeat domain 3, mRNA (cDNA clone IMAGE:3161161), partial cds.
JD517227 - Sequence 498251 from Patent EP1572962.
JD366201 - Sequence 347225 from Patent EP1572962.
JD366202 - Sequence 347226 from Patent EP1572962.
JD517226 - Sequence 498250 from Patent EP1572962.
JD189767 - Sequence 170791 from Patent EP1572962.
JD405182 - Sequence 386206 from Patent EP1572962.
JD057123 - Sequence 38147 from Patent EP1572962.
JD461273 - Sequence 442297 from Patent EP1572962.
JD100390 - Sequence 81414 from Patent EP1572962.
JD406681 - Sequence 387705 from Patent EP1572962.
JD246666 - Sequence 227690 from Patent EP1572962.
JD523352 - Sequence 504376 from Patent EP1572962.
JD351683 - Sequence 332707 from Patent EP1572962.
JD448283 - Sequence 429307 from Patent EP1572962.
JD447275 - Sequence 428299 from Patent EP1572962.
JD195590 - Sequence 176614 from Patent EP1572962.
JD096151 - Sequence 77175 from Patent EP1572962.
JD046288 - Sequence 27312 from Patent EP1572962.
JD566201 - Sequence 547225 from Patent EP1572962.
JD466264 - Sequence 447288 from Patent EP1572962.
JD347357 - Sequence 328381 from Patent EP1572962.
JD181207 - Sequence 162231 from Patent EP1572962.
JD293183 - Sequence 274207 from Patent EP1572962.
JD234118 - Sequence 215142 from Patent EP1572962.
JD234117 - Sequence 215141 from Patent EP1572962.
JD126629 - Sequence 107653 from Patent EP1572962.
JD311551 - Sequence 292575 from Patent EP1572962.
JD418510 - Sequence 399534 from Patent EP1572962.
JD428657 - Sequence 409681 from Patent EP1572962.
JD155409 - Sequence 136433 from Patent EP1572962.
JD428050 - Sequence 409074 from Patent EP1572962.
JD536564 - Sequence 517588 from Patent EP1572962.
JD195513 - Sequence 176537 from Patent EP1572962.
JD536748 - Sequence 517772 from Patent EP1572962.
JD564845 - Sequence 545869 from Patent EP1572962.
JD403953 - Sequence 384977 from Patent EP1572962.
JD122828 - Sequence 103852 from Patent EP1572962.
BC059371 - Homo sapiens ring finger and WD repeat domain 3, mRNA (cDNA clone MGC:71573 IMAGE:5266451), complete cds.
AK001382 - Homo sapiens cDNA FLJ10520 fis, clone NT2RP2000819.
JD248213 - Sequence 229237 from Patent EP1572962.
JD291861 - Sequence 272885 from Patent EP1572962.
JD209643 - Sequence 190667 from Patent EP1572962.
JD529829 - Sequence 510853 from Patent EP1572962.
JD210094 - Sequence 191118 from Patent EP1572962.
AK291200 - Homo sapiens cDNA FLJ77406 complete cds, highly similar to Homo sapiens ring finger and WD repeat domain 3, mRNA.
JD188468 - Sequence 169492 from Patent EP1572962.
JD195312 - Sequence 176336 from Patent EP1572962.
JD116718 - Sequence 97742 from Patent EP1572962.
AK296727 - Homo sapiens cDNA FLJ57523 complete cds, highly similar to Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.
JD561192 - Sequence 542216 from Patent EP1572962.
JD040627 - Sequence 21651 from Patent EP1572962.
JD336535 - Sequence 317559 from Patent EP1572962.
JD538701 - Sequence 519725 from Patent EP1572962.
AK315786 - Homo sapiens cDNA, FLJ96902.
KJ902777 - Synthetic construct Homo sapiens clone ccsbBroadEn_12171 RFWD3 gene, encodes complete protein.
JD226402 - Sequence 207426 from Patent EP1572962.
CU691354 - Synthetic construct Homo sapiens gateway clone IMAGE:100021253 5' read RFWD3 mRNA.
JD548370 - Sequence 529394 from Patent EP1572962.
JD067187 - Sequence 48211 from Patent EP1572962.
JD319870 - Sequence 300894 from Patent EP1572962.
JD473078 - Sequence 454102 from Patent EP1572962.
JD166718 - Sequence 147742 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K585, B2RE35, D3DUJ8, NM_018124, NP_060594, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4, RFWD3_HUMAN, RNF201
UCSC ID: uc002fda.3
RefSeq Accession: NM_018124
Protein: Q6PCD5 (aka RFWD3_HUMAN)
CCDS: CCDS32486.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RFWD3:
fa (Fanconi Anemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018124.3
exon count: 13CDS single in 3' UTR: no RNA size: 4952
ORF size: 2325CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4647.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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