InnateDB Protein
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IDBP-107746.5
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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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SDCCAG8
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Protein Name
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serologically defined colon cancer antigen 8
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Synonyms
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BBS16; CCCAP; CCCAP SLSN7; hCCCAP; NPHP10; NY-CO-8; SLSN7;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000355499
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InnateDB Gene
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IDBG-107744 (SDCCAG8)
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Protein Structure
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Function |
Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cell junction. Note=Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.Isoform 2: Cytoplasm.
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Disease Associations |
Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal- retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269PubMed:20835237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors. {ECO:0000269PubMed:9610721}.
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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 |
Q86SQ7
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PhosphoSite |
PhosphoSite-Q86SQ7
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TrEMBL |
A6NCS9
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UniProt Splice Variant |
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Entrez Gene |
10806
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UniGene |
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RefSeq |
NP_006633
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HUGO |
HGNC:10671
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OMIM |
613524
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CCDS |
CCDS31075
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HPRD |
10215
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IMGT |
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EMBL |
AC092782
AC092806
AC096539
AF039690
AF161348
AF250731
BC032454
BC045832
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GenPept |
AAC18039
AAF28908
AAH32454
AAH45832
AAO27830
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