Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BUN5

- CC28B_HUMAN

UniProt

Q9BUN5 - CC28B_HUMAN

Protein

Coiled-coil domain-containing protein 28B

Gene

CCDC28B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (13 Oct 2009)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 28B
    Gene namesi
    Name:CCDC28B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28163. CCDC28B.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication
    Note: It localizes near centrosomes and basal bodies.

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cytoplasm Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    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.

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    PharmGKBiPA142672186.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 200200Coiled-coil domain-containing protein 28BPRO_0000234094Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei46 – 461Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9BUN5.
    PaxDbiQ9BUN5.
    PRIDEiQ9BUN5.

    PTM databases

    PhosphoSiteiQ9BUN5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BUN5.
    BgeeiQ9BUN5.
    CleanExiHS_CCDC28B.
    GenevestigatoriQ9BUN5.

    Organism-specific databases

    HPAiHPA028403.
    HPA028589.

    Interactioni

    Subunit structurei

    Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 and TTC8/BBS8. Interacts with MAPKAP1/SIN1 isoform 1 and RICTOR.2 Publications

    Protein-protein interaction databases

    BioGridi122560. 2 interactions.
    DIPiDIP-60361N.
    STRINGi9606.ENSP00000362704.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUN5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili158 – 18326Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG40385.
    HOGENOMiHOG000231321.
    HOVERGENiHBG061498.
    InParanoidiQ9BUN5.
    OMAiDVREMEG.
    OrthoDBiEOG7ZPNMD.
    PhylomeDBiQ9BUN5.
    TreeFamiTF323549.

    Family and domain databases

    InterProiIPR025271. DUF4061.
    [Graphical view]
    PfamiPF13270. DUF4061. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BUN5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDDKKKKRSP KPCLAQPAQA PGTLRRVPVP TSHSGSLALG LPHLPSPKQR    50
    AKFKRVGKEK CRPVLAGGGS GSAGTPLQHS FLTEVTDVYE MEGGLLNLLN 100
    DFHSGRLQAF GKECSFEQLE HVREMQEKLA RLHFSLDVCG EEEDDEEEED 150
    GVTEGLPEEQ KKTMADRNLD QLLSNLEDLS NSIQKLHLAE NAEPEEQSAA 200
    Length:200
    Mass (Da):22,037
    Last modified:October 13, 2009 - v2
    Checksum:i3D6128251CF41148
    GO
    Isoform 2 (identifier: Q9BUN5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         183-200: IQKLHLAENAEPEEQSAA → MYPFQGTRLC...RYRNLEFPQN

    Show »
    Length:241
    Mass (Da):26,904
    Checksum:iE0490FDCC778F887
    GO

    Sequence cautioni

    The sequence CAI22057.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251R → W.
    Corresponds to variant rs1407134 [ dbSNP | Ensembl ].
    VAR_056776

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei183 – 20018IQKLH…EQSAA → MYPFQGTRLCVCVPERSVSS SPALQEYSHTTNFPTSCSPV RFSHRLPKPRYRNLEFPQN in isoform 2. 1 PublicationVSP_046552Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291904 mRNA. Translation: BAF84593.1.
    AL049795 Genomic DNA. Translation: CAB75616.1.
    AL049795 Genomic DNA. Translation: CAI22057.1. Sequence problems.
    CH471059 Genomic DNA. Translation: EAX07564.1.
    BC002462 mRNA. No translation available.
    BC022848 mRNA. Translation: AAH22848.1.
    CCDSiCCDS354.2. [Q9BUN5-1]
    RefSeqiNP_077272.2. NM_024296.3. [Q9BUN5-1]
    XP_006710955.1. XM_006710892.1. [Q9BUN5-3]
    UniGeneiHs.534482.

    Genome annotation databases

    EnsembliENST00000373602; ENSP00000362704; ENSG00000160050. [Q9BUN5-1]
    ENST00000421922; ENSP00000413017; ENSG00000160050. [Q9BUN5-3]
    GeneIDi79140.
    KEGGihsa:79140.
    UCSCiuc001bul.1. human. [Q9BUN5-1]

    Polymorphism databases

    DMDMi261260055.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291904 mRNA. Translation: BAF84593.1 .
    AL049795 Genomic DNA. Translation: CAB75616.1 .
    AL049795 Genomic DNA. Translation: CAI22057.1 . Sequence problems.
    CH471059 Genomic DNA. Translation: EAX07564.1 .
    BC002462 mRNA. No translation available.
    BC022848 mRNA. Translation: AAH22848.1 .
    CCDSi CCDS354.2. [Q9BUN5-1 ]
    RefSeqi NP_077272.2. NM_024296.3. [Q9BUN5-1 ]
    XP_006710955.1. XM_006710892.1. [Q9BUN5-3 ]
    UniGenei Hs.534482.

    3D structure databases

    ProteinModelPortali Q9BUN5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122560. 2 interactions.
    DIPi DIP-60361N.
    STRINGi 9606.ENSP00000362704.

    PTM databases

    PhosphoSitei Q9BUN5.

    Polymorphism databases

    DMDMi 261260055.

    Proteomic databases

    MaxQBi Q9BUN5.
    PaxDbi Q9BUN5.
    PRIDEi Q9BUN5.

    Protocols and materials databases

    DNASUi 79140.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373602 ; ENSP00000362704 ; ENSG00000160050 . [Q9BUN5-1 ]
    ENST00000421922 ; ENSP00000413017 ; ENSG00000160050 . [Q9BUN5-3 ]
    GeneIDi 79140.
    KEGGi hsa:79140.
    UCSCi uc001bul.1. human. [Q9BUN5-1 ]

    Organism-specific databases

    CTDi 79140.
    GeneCardsi GC01P032666.
    HGNCi HGNC:28163. CCDC28B.
    HPAi HPA028403.
    HPA028589.
    MIMi 209900. phenotype.
    610162. gene.
    neXtProti NX_Q9BUN5.
    PharmGKBi PA142672186.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40385.
    HOGENOMi HOG000231321.
    HOVERGENi HBG061498.
    InParanoidi Q9BUN5.
    OMAi DVREMEG.
    OrthoDBi EOG7ZPNMD.
    PhylomeDBi Q9BUN5.
    TreeFami TF323549.

    Miscellaneous databases

    ChiTaRSi CCDC28B. human.
    GeneWikii CCDC28B.
    GenomeRNAii 79140.
    NextBioi 68021.
    PROi Q9BUN5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BUN5.
    Bgeei Q9BUN5.
    CleanExi HS_CCDC28B.
    Genevestigatori Q9BUN5.

    Family and domain databases

    InterProi IPR025271. DUF4061.
    [Graphical view ]
    Pfami PF13270. DUF4061. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Skeletal muscle.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Lung and Retinoblastoma.
    5. Cited for: INTERACTION WITH BBS1; BBS2; BBS4; BBS5; BBS6; BBS7 AND BBS8, SUBCELLULAR LOCATION, INVOLVEMENT AS MODIFIER GENE IN BBS.
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-46, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome."
      Cardenas-Rodriguez M., Osborn D.P., Irigoin F., Grana M., Romero H., Beales P.L., Badano J.L.
      Hum. Genet. 132:91-105(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN CILIOGENESIS.
    9. "The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex."
      Cardenas-Rodriguez M., Irigoin F., Osborn D.P., Gascue C., Katsanis N., Beales P.L., Badano J.L.
      Hum. Mol. Genet. 22:4031-4042(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH MAPKAP1 AND RICTOR.

    Entry informationi

    Entry nameiCC28B_HUMAN
    AccessioniPrimary (citable) accession number: Q9BUN5
    Secondary accession number(s): A8K789, Q8TBV8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2006
    Last sequence update: October 13, 2009
    Last modified: October 1, 2014
    This is version 96 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3