AT8OS_HUMAN
ID AT8OS_HUMAN Reviewed; 200 AA.
AC P0DMR3;
DT 07-JAN-2015, integrated into UniProtKB/Swiss-Prot.
DT 07-JAN-2015, sequence version 1.
DT 25-MAY-2022, entry version 19.
DE RecName: Full=Putative protein ATXN8OS {ECO:0000305};
DE AltName: Full=ATXN8 opposite strand {ECO:0000312|HGNC:HGNC:10561};
DE AltName: Full=Spinocerebellar ataxia 8 {ECO:0000303|PubMed:10192387};
DE AltName: Full=kelch-like 1 antisense {ECO:0000312|HGNC:HGNC:10561};
GN Name=ATXN8OS {ECO:0000312|HGNC:HGNC:10561};
GN Synonyms=KLHL1AS {ECO:0000312|HGNC:HGNC:10561},
GN SCA8 {ECO:0000303|PubMed:10192387};
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 [MRNA], IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=10192387; DOI=10.1038/7710;
RA Koob M.D., Moseley M.L., Schut L.J., Benzow K.A., Bird T.D., Day J.W.,
RA Ranum L.P.;
RT "An untranslated CTG expansion causes a novel form of spinocerebellar
RT ataxia (SCA8).";
RL Nat. Genet. 21:379-384(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=24040107; DOI=10.1371/journal.pone.0073885;
RA Chen I.C., Lin H.Y., Hsiao Y.C., Chen C.M., Wu Y.R., Shiau H.C., Shen Y.F.,
RA Huang K.S., Su M.T., Hsieh-Li H.M., Lee-Chen G.J.;
RT "Internal ribosome entry segment activity of ATXN8 opposite strand RNA.";
RL PLoS ONE 8:E73885-E73885(2013).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24040107}.
CC -!- TISSUE SPECIFICITY: Expressed in brain (PubMed:10192387). Expressed in
CC muscle tissues (at protein level). {ECO:0000269|PubMed:10192387,
CC ECO:0000269|PubMed:24040107}.
CC -!- CAUTION: Product of a dubious CDS prediction. Translation must be
CC initiated from a non-canonical GUG codon (PubMed:24040107). Overlaps
CC with the ATXN8 gene but is transcribed in the opposite strand and was
CC originally considered as non-protein coding (PubMed:10192387).
CC {ECO:0000303|PubMed:10192387, ECO:0000303|PubMed:24040107}.
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DR EMBL; AF126749; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL160391; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; P0DMR3; -.
DR IntAct; P0DMR3; 1.
DR GlyGen; P0DMR3; 1 site, 1 O-linked glycan (1 site).
DR BioMuta; HGNC:10561; -.
DR MassIVE; P0DMR3; -.
DR PRIDE; P0DMR3; -.
DR GeneCards; ATXN8OS; -.
DR HGNC; HGNC:10561; ATXN8OS.
DR MalaCards; ATXN8OS; -.
DR MIM; 603680; gene.
DR neXtProt; NX_P0DMR3; -.
DR Orphanet; 98760; Spinocerebellar ataxia type 8.
DR Pharos; P0DMR3; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; P0DMR3; protein.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
PE 5: Uncertain;
KW Cytoplasm; Reference proteome.
FT CHAIN 1..200
FT /note="Putative protein ATXN8OS"
FT /id="PRO_0000431587"
FT REGION 19..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 25..39
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 126
FT /note="D -> G (in Ref. 1; AF126749)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 200 AA; 22759 MW; A5C1810381D7F5AB CRC64;
MPCPGAPCCS LVATGSRVPF SGLKEEEEED GEDDEEEEEE GFFQKVLTPL LSWLLSRRLW
LGPQCSKLPL PSCCRQPPPA GPPVEGDGWL KSFQRSRRMC FTSKSFRPEP DMLYAQKAKG
WQLTQDSGGW EVQDQCTRIW SKENLLALNT HSRRQKGKRE NKVCVSTWQK SRGDRTYSSM
ATTPSMTKIL EGCMYRKLKC