CF223_HUMAN
ID CF223_HUMAN Reviewed; 242 AA.
AC Q8N319; E9PB59; Q8N575;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Uncharacterized protein C6orf223;
GN Name=C6orf223;
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 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 [2]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lymph;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N319-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N319-4; Sequence=VSP_047241;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32706.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AL109615; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX04238.1; -; Genomic_DNA.
DR EMBL; BC029071; AAH29071.2; -; mRNA.
DR EMBL; BC032706; AAH32706.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001165463.1; NM_001171992.2.
DR RefSeq; NP_001311298.1; NM_001324369.1.
DR RefSeq; NP_694978.2; NM_153246.5.
DR AlphaFoldDB; Q8N319; -.
DR BioGRID; 128722; 2.
DR STRING; 9606.ENSP00000426159; -.
DR iPTMnet; Q8N319; -.
DR PhosphoSitePlus; Q8N319; -.
DR BioMuta; C6orf223; -.
DR DMDM; 74728754; -.
DR MassIVE; Q8N319; -.
DR PaxDb; Q8N319; -.
DR PeptideAtlas; Q8N319; -.
DR PRIDE; Q8N319; -.
DR ProteomicsDB; 19151; -.
DR ProteomicsDB; 71754; -. [Q8N319-3]
DR DNASU; 221416; -.
DR UCSC; uc003own.4; human. [Q8N319-3]
DR GeneCards; C6orf223; -.
DR HGNC; HGNC:28692; C6orf223.
DR neXtProt; NX_Q8N319; -.
DR PharmGKB; PA162380428; -.
DR eggNOG; ENOG502TD4J; Eukaryota.
DR HOGENOM; CLU_1165520_0_0_1; -.
DR InParanoid; Q8N319; -.
DR OrthoDB; 1579423at2759; -.
DR PhylomeDB; Q8N319; -.
DR TreeFam; TF341894; -.
DR PathwayCommons; Q8N319; -.
DR BioGRID-ORCS; 221416; 31 hits in 1037 CRISPR screens.
DR GenomeRNAi; 221416; -.
DR Pharos; Q8N319; Tdark.
DR PRO; PR:Q8N319; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N319; protein.
DR Genevisible; Q8N319; HS.
DR InterPro; IPR041009; DUF5550.
DR Pfam; PF17704; DUF5550; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..242
FT /note="Uncharacterized protein C6orf223"
FT /id="PRO_0000317189"
FT REGION 43..70
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 112..162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 52..70
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 28..242
FT /note="KTPRHKQPTLLMVRASRRSGKTSAVLKAGRQSVSGRKNSTSKDLVTLGASSL
FT REERGHPLHPRHRKAVHLRTRGRTRGWVQTLARMSRRTRGPVERAAAAAAAAAGGDAGH
FT APFPPPPAADGARAPRSPGQVTPRGLRLRLPRRESLLRGLCRPLRPLLGFRESDSAKPA
FT SLRLLQHTPSARRNYRIAGARLMRSNYPPPLSSAALRGAGPTRRN -> LLRKEGVDGG
FT LFSPEDPQAQAAHLTDGQSIQKKWQDFSCPQSRKTECFWQKEQHKQRSGNPRCLQFEGG
FT ERTPPPPQT (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047241"
FT VARIANT 48
FT /note="K -> E (in dbSNP:rs2295333)"
FT /id="VAR_050816"
FT VARIANT 107
FT /note="V -> M (in dbSNP:rs60336135)"
FT /id="VAR_061592"
FT CONFLICT 132
FT /note="A -> AA (in Ref. 3; AAH32706)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 242 AA; 26113 MW; 1F57C74182BE86BF CRC64;
MMPLAEAGAL AQGGGPSATE WACILRRKTP RHKQPTLLMV RASRRSGKTS AVLKAGRQSV
SGRKNSTSKD LVTLGASSLR EERGHPLHPR HRKAVHLRTR GRTRGWVQTL ARMSRRTRGP
VERAAAAAAA AAGGDAGHAP FPPPPAADGA RAPRSPGQVT PRGLRLRLPR RESLLRGLCR
PLRPLLGFRE SDSAKPASLR LLQHTPSARR NYRIAGARLM RSNYPPPLSS AALRGAGPTR
RN
