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Aliases for CCDC28B Gene

Aliases for CCDC28B Gene

  • Coiled-Coil Domain Containing 28B 2 3
  • MGC1203 6

External Ids for CCDC28B Gene

Summaries for CCDC28B Gene

Entrez Gene Summary for CCDC28B Gene

  • 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]

GeneCards Summary for CCDC28B Gene

CCDC28B (Coiled-Coil Domain Containing 28B) is a Protein Coding gene. Diseases associated with CCDC28B include retinal disease and congenital nystagmus. An important paralog of this gene is CCDC28A.

UniProtKB/Swiss-Prot for CCDC28B Gene

  • 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.

Gene Wiki entry for CCDC28B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC28B Gene

Genomics for CCDC28B Gene

Genomic Location for CCDC28B Gene

Start:
32,200,386 bp from pter
End:
32,205,390 bp from pter
Size:
5,005 bases
Orientation:
Plus strand

Genomic View for CCDC28B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC28B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC28B Gene

Regulatory Elements for CCDC28B Gene

Proteins for CCDC28B Gene

  • Protein details for CCDC28B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUN5-CC28B_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 28B
    Protein Accession:
    Q9BUN5
    Secondary Accessions:
    • A8K789
    • Q8TBV8

    Protein attributes for CCDC28B Gene

    Size:
    200 amino acids
    Molecular mass:
    22037 Da
    Quaternary structure:
    • Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 and TTC8/BBS8. Interacts with MAPKAP1/SIN1 isoform 1 and RICTOR.
    SequenceCaution:
    • Sequence=CAI22057.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC28B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC28B Gene

Proteomics data for CCDC28B Gene at MOPED

Post-translational modifications for CCDC28B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys112

Other Protein References for CCDC28B Gene

No data available for DME Specific Peptides for CCDC28B Gene

Domains for CCDC28B Gene

Protein Domains for CCDC28B Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with CCDC28B: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC28B Gene

Function for CCDC28B Gene

Molecular function for CCDC28B Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CCDC28B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16327777
genes like me logo Genes that share ontologies with CCDC28B: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CCDC28B Gene

Localization for CCDC28B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC28B Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=It localizes near centrosomes and basal bodies.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC28B Gene COMPARTMENTS Subcellular localization image for CCDC28B gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCDC28B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 16327777
genes like me logo Genes that share ontologies with CCDC28B: view

Pathways for CCDC28B Gene

SuperPathways for CCDC28B Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC28B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042384 cilium assembly IMP 23015189
genes like me logo Genes that share ontologies with CCDC28B: view

No data available for Pathways by source for CCDC28B Gene

Transcripts for CCDC28B Gene

Unigene Clusters for CCDC28B Gene

Coiled-coil domain containing 28B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC28B Gene

No ASD Table

Relevant External Links for CCDC28B Gene

GeneLoc Exon Structure for
CCDC28B
ECgene alternative splicing isoforms for
CCDC28B

Expression for CCDC28B Gene

mRNA expression in normal human tissues for CCDC28B Gene

mRNA differential expression in normal tissues according to GTEx for CCDC28B Gene

This gene is overexpressed in Muscle - Skeletal (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CCDC28B Gene

SOURCE GeneReport for Unigene cluster for CCDC28B Gene Hs.534482

genes like me logo Genes that share expressions with CCDC28B: view

Orthologs for CCDC28B Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC28B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC28B 36
  • 99.67 (n)
  • 100 (a)
CCDC28B 37
  • 76 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC28B 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC28B 36
  • 92.83 (n)
  • 97 (a)
CCDC28B 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc28b 36
  • 88.83 (n)
  • 96.5 (a)
Ccdc28b 16
Ccdc28b 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC28B 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC28B 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc28b 36
  • 88.33 (n)
  • 97 (a)
chicken
(Gallus gallus)
Aves CCDC28B 36
  • 71.91 (n)
  • 69.1 (a)
CCDC28B 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC28B 37
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9739 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc28b 36
  • 67.05 (n)
  • 66.86 (a)
Str.1267 36
zebrafish
(Danio rerio)
Actinopterygii ccdc28b 36
  • 62.96 (n)
  • 64.44 (a)
ccdc28b 37
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10874 37
  • 18 (a)
OneToMany
Species with no ortholog for CCDC28B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC28B Gene

ENSEMBL:
Gene Tree for CCDC28B (if available)
TreeFam:
Gene Tree for CCDC28B (if available)

Paralogs for CCDC28B Gene

Paralogs for CCDC28B Gene

Selected SIMAP similar genes for CCDC28B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CCDC28B: view

Variants for CCDC28B Gene

Sequence variations from dbSNP and Humsavar for CCDC28B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs980557 -- 32,201,687(+) GGGGC(A/C)TAGGT intron-variant
rs1407134 - 32,202,008(+) CACTA(C/T)GGAGG reference, missense
rs6425793 -- 32,202,827(+) GTTTA(A/G)AAGAG intron-variant
rs6425794 -- 32,203,146(+) aaaaa(A/T)ttttt intron-variant
rs11543060 -- 32,200,682(+) ACCGA(A/G)GCATC utr-variant-5-prime

Relevant External Links for CCDC28B Gene

HapMap Linkage Disequilibrium report
CCDC28B
Human Gene Mutation Database (HGMD)
CCDC28B

No data available for Structural Variations from Database of Genomic Variants (DGV) for CCDC28B Gene

Disorders for CCDC28B Gene

(1) OMIM Diseases for CCDC28B Gene (610162)

UniProtKB/Swiss-Prot

CC28B_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for CCDC28B Gene

Relevant External Links for CCDC28B

Genetic Association Database (GAD)
CCDC28B
Human Genome Epidemiology (HuGE) Navigator
CCDC28B
genes like me logo Genes that share disorders with CCDC28B: view

Publications for CCDC28B Gene

  1. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PMID: 16327777) Badano J.L. … Katsanis N. (Nature 2006) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PMID: 19402160) Bin J. … HAcon E. (Hum. Mutat. 2009) 3 49

Products for CCDC28B Gene

Sources for CCDC28B Gene

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