InnateDB Protein
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IDBP-95606.7
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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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CCDC28B
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Protein Name
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coiled-coil domain containing 28B
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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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ENSP00000362704
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InnateDB Gene
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IDBG-95602 (CCDC28B)
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Protein Structure
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Function |
Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex. {ECO:0000269PubMed:23015189, ECO:0000269PubMed:23727834}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:16327777}. Note=It localizes near centrosomes and basal bodies.
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Disease Associations |
Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Note=The gene represented in this entry acts as a disease modifier.
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Tissue Specificity |
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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 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
1
[view]
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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 |
Q9BUN5
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PhosphoSite |
PhosphoSite-Q9BUN5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79140
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UniGene |
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RefSeq |
NP_077272
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HUGO |
HGNC:28163
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OMIM |
610162
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CCDS |
CCDS354
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HPRD |
14422
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IMGT |
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EMBL |
AK291904
AL049795
BC002462
BC022848
CH471059
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GenPept |
AAH22848
BAF84593
CAB75616
CAI22057
EAX07564
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