CC28A_HUMAN
ID CC28A_HUMAN Reviewed; 274 AA.
AC Q8IWP9; E1P591; Q32NC7; Q66K67; Q96E23; Q9Y430;
DT 21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Coiled-coil domain-containing protein 28A;
DE AltName: Full=CCRL1AP;
GN Name=CCDC28A; Synonyms=C6orf80;
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].
RC TISSUE=Testis;
RA Guo J.H., Chen S., Chen L., Yu L.;
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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].
RC TISSUE=Colon, Prostate, and Testis;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 33-274.
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP CHROMOSOMAL TRANSLOCATION WITH NUP98, AND DISEASE.
RX PubMed=16028218; DOI=10.1002/gcc.20233;
RA Tosi S., Ballabio E., Teigler-Schlegel A., Boultwood J., Bruch J.,
RA Harbott J.;
RT "Characterization of 6q abnormalities in childhood acute myeloid leukemia
RT and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-
RT C6orf80 fusion in a case of acute megakaryoblastic leukemia.";
RL Genes Chromosomes Cancer 44:225-232(2005).
RN [7]
RP CHROMOSOMAL TRANSLOCATION WITH NUP98.
RX PubMed=22058212; DOI=10.3324/haematol.2011.047969;
RA Petit A., Ragu C., Soler G., Ottolenghi C., Schluth C., Radford-Weiss I.,
RA Schneider-Maunoury S., Callebaut I., Dastugue N., Drabkin H.A.,
RA Bernard O.A., Romana S., Penard-Lacronique V.;
RT "Functional analysis of the NUP98-CCDC28A fusion protein.";
RL Haematologica 97:379-387(2012).
CC -!- INTERACTION:
CC Q8IWP9; Q05084: ICA1; NbExp=3; IntAct=EBI-355471, EBI-1046751;
CC Q8IWP9; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-355471, EBI-2125614;
CC Q8IWP9; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-355471, EBI-1044640;
CC Q8IWP9; P15173: MYOG; NbExp=4; IntAct=EBI-355471, EBI-3906629;
CC Q8IWP9; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-355471, EBI-2130429;
CC -!- DISEASE: Note=A chromosomal aberration involving CCDC28A has been
CC identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with
CC NUP98. The chimeric transcript is an in-frame fusion of NUP98 exon 13
CC to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse
CC promotes the proliferative capacity and self-renewal potential of
CC hematopoietic progenitors and rapidly induced fatal myeloproliferative
CC neoplasms and defects in the differentiation of the erythro-
CC megakaryocytic lineage. {ECO:0000269|PubMed:16028218}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-91 is the initiator. The
CC first 90 residues are not conserved and orthologous sequences,
CC including rat and mouse ones, contain a stop codon upstream of the
CC conserved methionine. {ECO:0000305}.
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DR EMBL; AY167571; AAN87344.1; -; mRNA.
DR EMBL; AL121834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW47910.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW47911.1; -; Genomic_DNA.
DR EMBL; BC013019; AAH13019.2; -; mRNA.
DR EMBL; BC080566; AAH80566.1; -; mRNA.
DR EMBL; BC108717; AAI08718.1; -; mRNA.
DR EMBL; AL050197; CAB43315.1; -; mRNA.
DR PIR; T08802; T08802.
DR RefSeq; NP_056254.1; NM_015439.2.
DR AlphaFoldDB; Q8IWP9; -.
DR SMR; Q8IWP9; -.
DR BioGRID; 117408; 29.
DR IntAct; Q8IWP9; 9.
DR STRING; 9606.ENSP00000479060; -.
DR GlyGen; Q8IWP9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IWP9; -.
DR PhosphoSitePlus; Q8IWP9; -.
DR BioMuta; CCDC28A; -.
DR DMDM; 68052352; -.
DR EPD; Q8IWP9; -.
DR jPOST; Q8IWP9; -.
DR MassIVE; Q8IWP9; -.
DR MaxQB; Q8IWP9; -.
DR PaxDb; Q8IWP9; -.
DR PeptideAtlas; Q8IWP9; -.
DR PRIDE; Q8IWP9; -.
DR ProteomicsDB; 70876; -.
DR TopDownProteomics; Q8IWP9; -.
DR DNASU; 25901; -.
DR GeneID; 25901; -.
DR KEGG; hsa:25901; -.
DR UCSC; uc003qie.3; human.
DR CTD; 25901; -.
DR DisGeNET; 25901; -.
DR GeneCards; CCDC28A; -.
DR HGNC; HGNC:21098; CCDC28A.
DR MIM; 615353; gene.
DR neXtProt; NX_Q8IWP9; -.
DR PharmGKB; PA134939277; -.
DR eggNOG; ENOG502RYUK; Eukaryota.
DR HOGENOM; CLU_071072_0_0_1; -.
DR InParanoid; Q8IWP9; -.
DR OrthoDB; 1460268at2759; -.
DR PhylomeDB; Q8IWP9; -.
DR TreeFam; TF323549; -.
DR PathwayCommons; Q8IWP9; -.
DR SignaLink; Q8IWP9; -.
DR BioGRID-ORCS; 25901; 12 hits in 1078 CRISPR screens.
DR ChiTaRS; CCDC28A; human.
DR GenomeRNAi; 25901; -.
DR Pharos; Q8IWP9; Tdark.
DR PRO; PR:Q8IWP9; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8IWP9; protein.
DR Genevisible; Q8IWP9; HS.
DR InterPro; IPR025271; CCDC28.
DR PANTHER; PTHR13400; PTHR13400; 1.
DR Pfam; PF13270; DUF4061; 1.
PE 1: Evidence at protein level;
KW Chromosomal rearrangement; Coiled coil; Reference proteome.
FT CHAIN 1..274
FT /note="Coiled-coil domain-containing protein 28A"
FT /id="PRO_0000089411"
FT REGION 121..166
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 234..263
FT /evidence="ECO:0000255"
FT COMPBIAS 121..139
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 76..77
FT /note="Breakpoint for translocation to form NUP98-CCDC28A"
FT VARIANT 42
FT /note="S -> Y (in dbSNP:rs34538642)"
FT /id="VAR_050744"
FT VARIANT 82
FT /note="P -> L (in dbSNP:rs2273510)"
FT /id="VAR_050745"
SQ SEQUENCE 274 AA; 30367 MW; A2C6F97AE9854108 CRC64;
MPRAEPRATL GEQEKAGLPL GAWRLYLLRH FRKQTELRRS GSRDVTGALL VAAAVASEAV
GSLRVAEGGP NTLLLQVLRS WPWCNKELKT MEERKVKRRS PKSFSAHCTQ VVNAKKNAIP
VSKSTGFSNP ASQSTSQRPK LKRVMKEKTK PQGGEGKGAQ STPIQHSFLT DVSDVQEMER
GLLSLLNDFH SGKLQAFGNE CSIEQMEHVR GMQEKLARLN LELYGELEEL PEDKRKTASD
SNLDRLLSDL EELNSSIQKL HLADAQDVPN TSAS
