CCDC28B
entrez
79140
canonical
uniprot
Q9BUN5
canonical
ensembl
ENSG00000160050
resolver
ensp
ENSP00000362704
resolver
ensp
ENSP00000413017
resolver
ensp
ENSP00000506476
resolver
ensp
ENSP00000538584
resolver
ensp
ENSP00000538585
resolver
enst
ENST00000681230
resolver
genesymbol
CCDC28B
resolver
hgnc
HGNC:28163
resolver
uniprot
A0A7P0TB33
resolver
uniprot
A8K789
resolver
uniprot
Q8TBV8
resolver
uniprot_entry
A0A7P0TB33_HUMAN
resolver
uniprot_entry
CC28B_HUMAN
resolver
uniprot_sec
A8K789
resolver
uniprot_sec
Q8TBV8
resolver
amino_acid_sequence
MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHLPSPKQRAKFKRVGKEKCRPVLAGGGSGSAGTPLQHSFLTEVTDVYEMEGGLLNLLNDFHSGRLQAFGKECSFEQLEHVREMQEKLARLHFSLDVCGEEEDDEEEEDGVTEGLPEEQKKTMADRNLDQLLSNLEDLSNSIQKLHLAENAEPEEQSAA
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. 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. {ECO:0000269|PubMed:16327777}. Note=The gene represented in this entry acts as a disease modifier.
uniprot
proteins
function
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:0000269|PubMed:23015189, ECO:0000269|PubMed:23727834}.
uniprot
proteins
mass_dalton
22037
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23015189
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23727834
uniprot
proteins
sequence_length
200
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16327777}. Note=It localizes near centrosomes and basal bodies.
uniprot
proteins