InnateDB Protein
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IDBP-245532.7
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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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CEP85L
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Protein Name
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chromosome 6 open reading frame 204
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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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ENSP00000376288
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InnateDB Gene
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IDBG-95865 (CEP85L)
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Protein Structure
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Function |
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000305PubMed:21399614}. Note=Subcellular experiments using a GFP-tagged system produced a weak signal, rendering it difficult to confirm centrosome association.
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Disease Associations |
Note=A chromosomal aberration involving CEP85L is found in a patient with T-lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm (MPN) with eosinophilia. Translocation t(5;6)(q33-34;q23) with PDGFRB. The translocation fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB.
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Tissue Specificity |
Isoform 1 and isoform 4 are expressed in spleen, lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1 expressed at higher levels. Isoform 4 is detected in K-562 leukemia cells and in the blood of precursor T lymphoblastic lymphoma (T-ALL) patients. {ECO:0000269PubMed:21938754}.
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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 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[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 |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q5SZL2
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PhosphoSite |
PhosphoSite-Q5SZL2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
387119
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UniGene |
Hs.733475
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RefSeq |
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HUGO |
HGNC:21638
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OMIM |
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CCDS |
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HPRD |
12874
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IMGT |
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EMBL |
AF308284
AL359634
AL390069
AL589993
AY313778
BC110835
BC126140
BC126142
CH471051
Z99496
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GenPept |
AAG48252
AAI10836
AAI26141
AAI26143
AAP81009
CAI14134
CAI14135
CAI16048
CAI21605
CAI21606
CAM19611
CAM28257
CAM28259
EAW48196
EAW48197
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