DOAS1_HUMAN
ID DOAS1_HUMAN Reviewed; 295 AA.
AC Q5T8R8; Q96NB0;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Uncharacterized protein DOCK8-AS1;
DE AltName: Full=DOCK8 antisense RNA 1 {ECO:0000312|HGNC:HGNC:26436};
GN Name=DOCK8-AS1 {ECO:0000312|HGNC:HGNC:26436}; Synonyms=C9orf66;
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=Kidney;
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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
CC -!- CAUTION: Product of a dubious CDS prediction. {ECO:0000305}.
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DR EMBL; AK055720; BAB70995.1; -; mRNA.
DR EMBL; AL158832; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_689782.2; NM_152569.2.
DR AlphaFoldDB; Q5T8R8; -.
DR STRING; 9606.ENSP00000371824; -.
DR iPTMnet; Q5T8R8; -.
DR PhosphoSitePlus; Q5T8R8; -.
DR BioMuta; C9orf66; -.
DR DMDM; 71152410; -.
DR MassIVE; Q5T8R8; -.
DR PaxDb; Q5T8R8; -.
DR PeptideAtlas; Q5T8R8; -.
DR PRIDE; Q5T8R8; -.
DR UCSC; uc003zge.5; human.
DR GeneCards; DOCK8-AS1; -.
DR HGNC; HGNC:26436; DOCK8-AS1.
DR MalaCards; DOCK8-AS1; -.
DR neXtProt; NX_Q5T8R8; -.
DR eggNOG; ENOG502TM25; Eukaryota.
DR HOGENOM; CLU_943216_0_0_1; -.
DR PathwayCommons; Q5T8R8; -.
DR BioGRID-ORCS; 157983; 7 hits in 1058 CRISPR screens.
DR GenomeRNAi; 157983; -.
DR Pharos; Q5T8R8; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q5T8R8; protein.
DR Genevisible; Q5T8R8; HS.
DR InterPro; IPR040791; DUF5555.
DR Pfam; PF17710; DUF5555; 1.
PE 5: Uncertain;
KW Reference proteome.
FT CHAIN 1..295
FT /note="Uncharacterized protein DOCK8-AS1"
FT /id="PRO_0000089703"
FT REGION 1..111
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 183..295
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 32..49
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 65..81
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 247..266
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 43
FT /note="L -> R (in dbSNP:rs636922)"
FT /id="VAR_050824"
FT VARIANT 178
FT /note="R -> Q (in dbSNP:rs2236547)"
FT /id="VAR_050825"
FT VARIANT 231
FT /note="R -> G (in dbSNP:rs540473)"
FT /id="VAR_050826"
FT CONFLICT 55
FT /note="D -> G (in Ref. 1; BAB70995)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 295 AA; 31184 MW; 0FF1D5561AE396B5 CRC64;
MRHSVARPTR LPRRLSPFWD PATCKNLEGG AGEVVRGRDP RRLRTSRSTE ILGEDLAGPS
AGAAARPAAP PPQPREPGAP GLRRAPPRTR MDSSGLGPCS EAPLHTSAGL SGRNLRAAGG
VLPVDLERER AALCARQSGH GPPAVRWLLG SRGAESGGLA RRRVAAEHAQ PSANLVCRSA
LETSAFPPSK PKSPRGRVRA RSSDGRLRHP AWRAGSGGRG GRGPSAELAS RYWGRRRALP
GAADLRPKGA RADDRRPLRA GRKLHLPEAA RLPGNVGKSG EPHKAGEVGN HPRDS
