InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCDC28B

Summary

InnateDB Protein

IDBP-378701.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CCDC28B

Protein Name

coiled-coil domain containing 28B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000413017

InnateDB Gene

IDBG-95602 (CCDC28B)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:16327777}. Note=It localizes near centrosomes and basal bodies.

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.