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Q9BUN5

- CC28B_HUMAN

UniProt

Q9BUN5 - CC28B_HUMAN

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Protein

Coiled-coil domain-containing protein 28B

Gene

CCDC28B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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 - Biological processi

  1. cilium assembly Source: UniProtKB
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BUN5.
CleanExiHS_CCDC28B.
ExpressionAtlasiQ9BUN5. baseline and differential.
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.
GeneTreeiENSGT00500000044870.
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

        10         20         30         40         50
MDDKKKKRSP KPCLAQPAQA PGTLRRVPVP TSHSGSLALG LPHLPSPKQR
60 70 80 90 100
AKFKRVGKEK CRPVLAGGGS GSAGTPLQHS FLTEVTDVYE MEGGLLNLLN
110 120 130 140 150
DFHSGRLQAF GKECSFEQLE HVREMQEKLA RLHFSLDVCG EEEDDEEEED
160 170 180 190 200
GVTEGLPEEQ KKTMADRNLD QLLSNLEDLS NSIQKLHLAE NAEPEEQSAA
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. Curated

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:
EMBLi
GenBanki
DDBJi
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]
CCDS72749.1. [Q9BUN5-3]
RefSeqiNP_001287940.1. NM_001301011.1. [Q9BUN5-3]
NP_077272.2. NM_024296.4. [Q9BUN5-1]
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:
EMBLi
GenBanki
DDBJi
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 ]
CCDS72749.1. [Q9BUN5-3 ]
RefSeqi NP_001287940.1. NM_001301011.1. [Q9BUN5-3 ]
NP_077272.2. NM_024296.4. [Q9BUN5-1 ]
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.
GeneTreei ENSGT00500000044870.
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

Bgeei Q9BUN5.
CleanExi HS_CCDC28B.
ExpressionAtlasi Q9BUN5. baseline and differential.
Genevestigatori Q9BUN5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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: November 26, 2014
This is version 98 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