InnateDB Protein
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IDBP-237447.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WRAP53
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Protein Name
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WD repeat containing, antisense to TP53
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379727
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InnateDB Gene
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IDBG-26580 (WRAP53)
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Protein Structure
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Function |
Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post- transcriptional level; it is involved both in maintaining basal p53 mRNA levels and in p53 induction upon DNA damage. {ECO:0000269PubMed:19179534, ECO:0000269PubMed:19250907}.
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Subcellular Localization |
Nucleus, Cajal body. Cytoplasm.
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Disease Associations |
Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269PubMed:21205863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in all tissues and cell lines examined. {ECO:0000269PubMed:19250907}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BUR4
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PhosphoSite |
PhosphoSite-Q9BUR4
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TrEMBL |
C6ZGR0
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UniProt Splice Variant |
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Entrez Gene |
55135
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UniGene |
Hs.735124
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RefSeq |
NP_060551
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HUGO |
HGNC:25522
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OMIM |
612661
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CCDS |
CCDS11119
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HPRD |
07670
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IMGT |
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EMBL |
AK001247
AK056669
AY766322
BC002336
CH471108
DQ431240
DQ431241
EU876947
EU876948
EU876949
EU876953
EU876955
EU876957
EU876958
EU876959
EU876961
EU876962
EU876963
EU876964
EU876965
EU876966
EU876967
EU876968
EU876969
EU876970
EU876971
EU876973
EU876974
EU876975
EU876976
EU876977
EU876978
EU876979
EU876980
EU876981
EU876982
EU876983
EU876985
EU876986
EU876987
EU876988
EU876989
EU876992
EU876993
EU876994
EU876995
EU876996
EU876997
EU876998
EU876999
EU877000
EU877001
EU877002
EU877003
EU877004
EU877005
EU877006
EU877008
EU877010
EU877011
EU877012
EU877013
EU877014
EU877015
EU877017
EU877018
EU877019
EU877021
EU877023
EU877027
EU877028
EU877031
EU877033
EU877042
EU877046
EU877051
EU877053
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GenPept |
AAH02336
AAW92115
ABD92817
ABD92818
ACM07586
ACM07587
ACM07588
ACM07592
ACM07594
ACM07596
ACM07597
ACM07598
ACM07600
ACM07601
ACM07602
ACM07603
ACM07604
ACM07605
ACM07606
ACM07607
ACM07608
ACM07609
ACM07610
ACM07612
ACM07613
ACM07614
ACM07615
ACM07616
ACM07617
ACM07618
ACM07619
ACM07620
ACM07621
ACM07622
ACM07624
ACM07625
ACM07626
ACM07627
ACM07628
ACM07631
ACM07632
ACM07633
ACM07634
ACM07635
ACM07636
ACM07637
ACM07638
ACM07639
ACM07640
ACM07641
ACM07642
ACM07643
ACM07644
ACM07645
ACM07647
ACM07649
ACM07650
ACM07651
ACM07652
ACM07653
ACM07654
ACM07656
ACM07657
ACM07658
ACM07660
ACM07662
ACM07666
ACM07667
ACM07670
ACM07672
ACM07681
ACM07685
ACM07690
ACM07692
BAA91579
BAG51781
EAW90136
EAW90138
EAW90139
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