CC28B_HUMAN
ID CC28B_HUMAN Reviewed; 200 AA.
AC Q9BUN5; A8K789; Q8TBV8;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-OCT-2009, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Coiled-coil domain-containing protein 28B;
GN Name=CCDC28B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, and Retinoblastoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INTERACTION WITH BBS1; BBS2; BBS4; BBS5; BBS6; BBS7 AND BBS8, SUBCELLULAR
RP LOCATION, AND INVOLVEMENT AS MODIFIER GENE IN BBS.
RX PubMed=16327777; DOI=10.1038/nature04370;
RA Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S.,
RA Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N.;
RT "Dissection of epistasis in oligogenic Bardet-Biedl syndrome.";
RL Nature 439:326-330(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-46, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP FUNCTION IN CILIOGENESIS.
RX PubMed=23015189; DOI=10.1007/s00439-012-1228-5;
RA Cardenas-Rodriguez M., Osborn D.P., Irigoin F., Grana M., Romero H.,
RA Beales P.L., Badano J.L.;
RT "Characterization of CCDC28B reveals its role in ciliogenesis and provides
RT insight to understand its modifier effect on Bardet-Biedl syndrome.";
RL Hum. Genet. 132:91-105(2013).
RN [9]
RP FUNCTION, AND INTERACTION WITH MAPKAP1 AND RICTOR.
RX PubMed=23727834; DOI=10.1093/hmg/ddt253;
RA Cardenas-Rodriguez M., Irigoin F., Osborn D.P., Gascue C., Katsanis N.,
RA Beales P.L., Badano J.L.;
RT "The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2
RT function and interacts with SIN1 to control cilia length independently of
RT the mTOR complex.";
RL Hum. Mol. Genet. 22:4031-4042(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-115, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Involved in ciliogenesis. Regulates cilia length through its
CC interaction with MAPKAP1/SIN1 but independently of mTORC2 complex.
CC Modulates mTORC2 complex assembly and function, possibly enhances AKT1
CC phosphorylation. Does not seem to modulate assembly and function of
CC mTORC1 complex. {ECO:0000269|PubMed:23015189,
CC ECO:0000269|PubMed:23727834}.
CC -!- SUBUNIT: Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 and
CC TTC8/BBS8. Interacts with MAPKAP1/SIN1 isoform 1 and RICTOR.
CC {ECO:0000269|PubMed:16327777, ECO:0000269|PubMed:23727834}.
CC -!- INTERACTION:
CC Q9BUN5; Q8WXE1: ATRIP; NbExp=3; IntAct=EBI-10299032, EBI-747353;
CC Q9BUN5; Q96RK4: BBS4; NbExp=3; IntAct=EBI-10299032, EBI-1805814;
CC Q9BUN5-3; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-12920646, EBI-742909;
CC Q9BUN5-3; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-12920646, EBI-744099;
CC Q9BUN5-3; P62993: GRB2; NbExp=3; IntAct=EBI-12920646, EBI-401755;
CC Q9BUN5-3; O43741: PRKAB2; NbExp=5; IntAct=EBI-12920646, EBI-1053424;
CC Q9BUN5-3; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-12920646, EBI-748391;
CC Q9BUN5-3; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-12920646, EBI-607755;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:16327777}. Note=It localizes
CC near centrosomes and basal bodies.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BUN5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BUN5-3; Sequence=VSP_046552;
CC -!- DISEASE: Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome
CC characterized by usually severe pigmentary retinopathy, early-onset
CC obesity, polydactyly, hypogenitalism, renal malformation and
CC intellectual disability. Secondary features include diabetes mellitus,
CC hypertension and congenital heart disease. Bardet-Biedl syndrome
CC inheritance is autosomal recessive, but three mutated alleles (two at
CC one locus, and a third at a second locus) may be required for clinical
CC manifestation of some forms of the disease.
CC {ECO:0000269|PubMed:16327777}. Note=The gene represented in this entry
CC acts as a disease modifier.
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DR EMBL; AK291904; BAF84593.1; -; mRNA.
DR EMBL; AL049795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX07564.1; -; Genomic_DNA.
DR EMBL; BC002462; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC022848; AAH22848.1; -; mRNA.
DR CCDS; CCDS354.2; -. [Q9BUN5-1]
DR CCDS; CCDS72749.1; -. [Q9BUN5-3]
DR RefSeq; NP_001287940.1; NM_001301011.1. [Q9BUN5-3]
DR RefSeq; NP_077272.2; NM_024296.4. [Q9BUN5-1]
DR RefSeq; XP_011540415.1; XM_011542113.2. [Q9BUN5-3]
DR RefSeq; XP_016857796.1; XM_017002307.1. [Q9BUN5-1]
DR AlphaFoldDB; Q9BUN5; -.
DR SMR; Q9BUN5; -.
DR BioGRID; 122560; 23.
DR DIP; DIP-60361N; -.
DR IntAct; Q9BUN5; 18.
DR STRING; 9606.ENSP00000413017; -.
DR iPTMnet; Q9BUN5; -.
DR PhosphoSitePlus; Q9BUN5; -.
DR BioMuta; CCDC28B; -.
DR DMDM; 261260055; -.
DR EPD; Q9BUN5; -.
DR jPOST; Q9BUN5; -.
DR MassIVE; Q9BUN5; -.
DR MaxQB; Q9BUN5; -.
DR PaxDb; Q9BUN5; -.
DR PeptideAtlas; Q9BUN5; -.
DR PRIDE; Q9BUN5; -.
DR ProteomicsDB; 79113; -. [Q9BUN5-1]
DR Antibodypedia; 31247; 88 antibodies from 20 providers.
DR DNASU; 79140; -.
DR Ensembl; ENST00000373602.10; ENSP00000362704.5; ENSG00000160050.16. [Q9BUN5-1]
DR Ensembl; ENST00000421922.6; ENSP00000413017.2; ENSG00000160050.16. [Q9BUN5-3]
DR GeneID; 79140; -.
DR KEGG; hsa:79140; -.
DR MANE-Select; ENST00000373602.10; ENSP00000362704.5; NM_024296.5; NP_077272.2.
DR UCSC; uc001bul.2; human. [Q9BUN5-1]
DR CTD; 79140; -.
DR DisGeNET; 79140; -.
DR GeneCards; CCDC28B; -.
DR HGNC; HGNC:28163; CCDC28B.
DR HPA; ENSG00000160050; Group enriched (skeletal muscle, tongue).
DR MalaCards; CCDC28B; -.
DR MIM; 209900; phenotype.
DR MIM; 610162; gene.
DR neXtProt; NX_Q9BUN5; -.
DR OpenTargets; ENSG00000160050; -.
DR PharmGKB; PA142672186; -.
DR VEuPathDB; HostDB:ENSG00000160050; -.
DR eggNOG; ENOG502RYUK; Eukaryota.
DR GeneTree; ENSGT00500000044870; -.
DR HOGENOM; CLU_089059_1_0_1; -.
DR InParanoid; Q9BUN5; -.
DR OMA; RRSPKPC; -.
DR OrthoDB; 1460268at2759; -.
DR PhylomeDB; Q9BUN5; -.
DR TreeFam; TF323549; -.
DR PathwayCommons; Q9BUN5; -.
DR SignaLink; Q9BUN5; -.
DR BioGRID-ORCS; 79140; 12 hits in 1081 CRISPR screens.
DR ChiTaRS; CCDC28B; human.
DR GeneWiki; CCDC28B; -.
DR GenomeRNAi; 79140; -.
DR Pharos; Q9BUN5; Tbio.
DR PRO; PR:Q9BUN5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BUN5; protein.
DR Bgee; ENSG00000160050; Expressed in hindlimb stylopod muscle and 167 other tissues.
DR ExpressionAtlas; Q9BUN5; baseline and differential.
DR Genevisible; Q9BUN5; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR InterPro; IPR025271; CCDC28.
DR PANTHER; PTHR13400; PTHR13400; 1.
DR Pfam; PF13270; DUF4061; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Bardet-Biedl syndrome; Ciliopathy;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Obesity; Phosphoprotein; Reference proteome.
FT CHAIN 1..200
FT /note="Coiled-coil domain-containing protein 28B"
FT /id="PRO_0000234094"
FT REGION 1..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 141..164
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 158..183
FT /evidence="ECO:0000255"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 46
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT MOD_RES 115
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 183..200
FT /note="IQKLHLAENAEPEEQSAA -> MYPFQGTRLCVCVPERSVSSSPALQEYSHT
FT TNFPTSCSPVRFSHRLPKPRYRNLEFPQN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046552"
FT VARIANT 25
FT /note="R -> W (in dbSNP:rs1407134)"
FT /id="VAR_056776"
SQ SEQUENCE 200 AA; 22037 MW; 3D6128251CF41148 CRC64;
MDDKKKKRSP KPCLAQPAQA PGTLRRVPVP TSHSGSLALG LPHLPSPKQR AKFKRVGKEK
CRPVLAGGGS GSAGTPLQHS FLTEVTDVYE MEGGLLNLLN DFHSGRLQAF GKECSFEQLE
HVREMQEKLA RLHFSLDVCG EEEDDEEEED GVTEGLPEEQ KKTMADRNLD QLLSNLEDLS
NSIQKLHLAE NAEPEEQSAA
