Q9BUN5 (CC28B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 28B

Gene names

Name:

CCDC28B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	200 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in ciliogenesis. Ref.7
Subunit structure	Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 AND BBS8. Ref.5
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Note: It localizes near centrosomes and basal bodies. Ref.5
Involvement in disease	Phenotypic expression of Bardet-Biedl syndrome (BBS) can be modulated by genetic variations in CCDC28B (Ref.5). 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. Ref.5
Sequence caution	The sequence CAI22057.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	centrosome Inferred from direct assay Ref.5. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 200	200	Coiled-coil domain-containing protein 28B		PRO_0000234094
Regions
	Coiled coil	158 – 183	26	Potential
Amino acid modifications
	Modified residue	46	1	Phosphoserine Ref.6
Natural variations
	Natural variant	25	1	R → W. Corresponds to variant rs1407134 [ dbSNP | Ensembl ].		VAR_056776

Sequences

	Sequence		Length	Mass (Da)
	Q9BUN5 [UniParc]. Last modified October 13, 2009. Version 2. Checksum: 3D6128251CF41148	FASTA	200	22,037
	10 20 30 40 50 60 MDDKKKKRSP KPCLAQPAQA PGTLRRVPVP TSHSGSLALG LPHLPSPKQR AKFKRVGKEK 70 80 90 100 110 120 CRPVLAGGGS GSAGTPLQHS FLTEVTDVYE MEGGLLNLLN DFHSGRLQAF GKECSFEQLE 130 140 150 160 170 180 HVREMQEKLA RLHFSLDVCG EEEDDEEEED GVTEGLPEEQ KKTMADRNLD QLLSNLEDLS 190 200 NSIQKLHLAE NAEPEEQSAA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]. 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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]. Tissue: Lung.
[5]	"Dissection of epistasis in oligogenic Bardet-Biedl syndrome." Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N. Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[7]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. BC022848 mRNA. Translation: AAH22848.1.
IPI	IPI00382868.
RefSeq	NP_077272.2. NM_024296.3.
UniGene	Hs.534482.
3D structure databases
ProteinModelPortal	Q9BUN5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362704.
PTM databases
PhosphoSite	Q9BUN5.
Polymorphism databases
DMDM	261260055.
Proteomic databases
PaxDb	Q9BUN5.
PRIDE	Q9BUN5.
Protocols and materials databases
DNASU	79140.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373602; ENSP00000362704; ENSG00000160050. ENST00000421922; ENSP00000413017; ENSG00000160050.
GeneID	79140.
KEGG	hsa:79140.
UCSC	uc001bul.1. human.
Organism-specific databases
CTD	79140.
GeneCards	GC01P032666.
HGNC	HGNC:28163. CCDC28B.
HPA	HPA028403.
MIM	610162. gene.
neXtProt	NX_Q9BUN5.
PharmGKB	PA142672186.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40385.
HOGENOM	HOG000231321.
HOVERGEN	HBG061498.
InParanoid	Q9BUN5.
OrthoDB	EOG44TP94.
Gene expression databases
ArrayExpress	Q9BUN5.
Bgee	Q9BUN5.
CleanEx	HS_CCDC28B.
Genevestigator	Q9BUN5.
GermOnline	ENSG00000160050. Homo sapiens.
Family and domain databases
InterPro	IPR025271. DUF4061. [Graphical view]
Pfam	PF13270. DUF4061. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CCDC28B. human.
GenomeRNAi	79140.
NextBio	68021.
SOURCE	Search...

Entry information

Entry name

CC28B_HUMAN

Accession

Primary (citable) accession number: Q9BUN5
Secondary accession number(s): A8K789, Q8TBV8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
Last sequence update:	October 13, 2009
Last modified:	April 3, 2013
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.