Human Gene CCDC28B (ENST00000373602.10) from GENCODE V44
Description: Homo sapiens coiled-coil domain containing 28B (CCDC28B), transcript variant 2, mRNA. (from RefSeq NM_024296) RefSeq Summary (NM_024296): The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. Gencode Transcript: ENST00000373602.10 Gencode Gene: ENSG00000160050.16 Transcript (Including UTRs) Position: hg38 chr1:32,200,595-32,205,387 Size: 4,793 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr1:32,201,936-32,205,248 Size: 3,313 Coding Exon Count: 5
ID:CC28B_HUMAN DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 28B; FUNCTION: Involved in ciliogenesis. SUBUNIT: Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 AND BBS8. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=It localizes near centrosomes and basal bodies. DISEASE: Note=Phenotypic expression of Bardet-Biedl syndrome (BBS) can be modulated by genetic variations in CCDC28B (PubMed:16327777). Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. SEQUENCE CAUTION: Sequence=CAI22057.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF13270 - Domain of unknown function (DUF4061)
ModBase Predicted Comparative 3D Structure on Q9BUN5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.