Human Gene WDR48 (uc003cit.3) Description and Page Index
Description: Homo sapiens WD repeat domain 48 (WDR48), mRNA. RefSeq Summary (NM_020839): The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK025513.1, AB040882.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000302313.10/ ENSP00000307491.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr3:39,093,507-39,137,881 Size: 44,375 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr3:39,093,517-39,136,234 Size: 42,718 Coding Exon Count: 19
ID:WDR48_HUMAN DESCRIPTION: RecName: Full=WD repeat-containing protein 48; AltName: Full=USP1-associated factor 1; AltName: Full=WD repeat endosomal protein; AltName: Full=p80; FUNCTION: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP. In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1. SUBUNIT: Interacts with USP1, USP12 and USP46. Interacts with Saimiriine herpesvirus TIP protein. Interacts with papillomavirus HPV11 E1 protein. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Lysosome. Note=Mainly cytoplasmic. In case of infection by papillomavirus HPV11, translocates to the nucleus via its interaction with papillomavirus HPV11. TISSUE SPECIFICITY: Ubiquitous. DOMAIN: N-terminal WD region interacts with TIP and C-terminal region mediates lysosomal localization. The WD repeats are required for the interaction with deubiquitinating enzymes USP1, USP12 and USP46. SIMILARITY: Belongs to the WD repeat WDR48 family. SIMILARITY: Contains 8 WD repeats. SEQUENCE CAUTION: Sequence=AAH37168.1; Type=Erroneous initiation; Sequence=BAA95973.2; Type=Erroneous initiation; Sequence=CAH56182.1; Type=Erroneous initiation; Sequence=CAH56300.1; Type=Erroneous initiation;
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.
ModBase Predicted Comparative 3D Structure on Q8TAF3
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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.