ID   CI050_HUMAN             Reviewed;         431 AA.
AC   Q5SZB4; Q2M1I2; Q8NA65;
DT   10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT   21-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 103.
DE   RecName: Full=Uncharacterized protein C9orf50;
GN   Name=C9orf50;
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;
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).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 363-431.
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   -!- SEQUENCE CAUTION:
CC       Sequence=AK093122; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK093122; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AL590369; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL391056; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC112353; AAI12354.1; -; mRNA.
DR   CCDS; CCDS35159.1; -.
DR   RefSeq; NP_955382.3; NM_199350.3.
DR   RefSeq; XP_011516957.1; XM_011518655.1.
DR   RefSeq; XP_011516958.1; XM_011518656.1.
DR   AlphaFoldDB; Q5SZB4; -.
DR   BioGRID; 131998; 2.
DR   IntAct; Q5SZB4; 1.
DR   STRING; 9606.ENSP00000361556; -.
DR   iPTMnet; Q5SZB4; -.
DR   PhosphoSitePlus; Q5SZB4; -.
DR   BioMuta; C9orf50; -.
DR   DMDM; 74744124; -.
DR   MassIVE; Q5SZB4; -.
DR   PaxDb; Q5SZB4; -.
DR   PeptideAtlas; Q5SZB4; -.
DR   PRIDE; Q5SZB4; -.
DR   ProteomicsDB; 64049; -.
DR   Antibodypedia; 17886; 40 antibodies from 9 providers.
DR   DNASU; 375759; -.
DR   Ensembl; ENST00000372478.4; ENSP00000361556.4; ENSG00000179058.7.
DR   GeneID; 375759; -.
DR   KEGG; hsa:375759; -.
DR   MANE-Select; ENST00000372478.5; ENSP00000361556.4; NM_199350.4; NP_955382.3.
DR   UCSC; uc004byc.4; human.
DR   CTD; 375759; -.
DR   GeneCards; C9orf50; -.
DR   HGNC; HGNC:23677; C9orf50.
DR   HPA; ENSG00000179058; Tissue enriched (testis).
DR   neXtProt; NX_Q5SZB4; -.
DR   OpenTargets; ENSG00000179058; -.
DR   PharmGKB; PA142672314; -.
DR   VEuPathDB; HostDB:ENSG00000179058; -.
DR   eggNOG; ENOG502TKNG; Eukaryota.
DR   GeneTree; ENSGT00390000004321; -.
DR   HOGENOM; CLU_052521_1_0_1; -.
DR   InParanoid; Q5SZB4; -.
DR   OMA; ANHRPHG; -.
DR   OrthoDB; 1120902at2759; -.
DR   PhylomeDB; Q5SZB4; -.
DR   TreeFam; TF338486; -.
DR   PathwayCommons; Q5SZB4; -.
DR   SignaLink; Q5SZB4; -.
DR   BioGRID-ORCS; 375759; 11 hits in 1054 CRISPR screens.
DR   GenomeRNAi; 375759; -.
DR   Pharos; Q5SZB4; Tdark.
DR   PRO; PR:Q5SZB4; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5SZB4; protein.
DR   Bgee; ENSG00000179058; Expressed in left testis and 101 other tissues.
DR   ExpressionAtlas; Q5SZB4; baseline and differential.
DR   Genevisible; Q5SZB4; HS.
DR   InterPro; IPR032756; DUF4685.
DR   Pfam; PF15737; DUF4685; 1.
PE   2: Evidence at transcript level;
KW   Reference proteome.
FT   CHAIN           1..431
FT                   /note="Uncharacterized protein C9orf50"
FT                   /id="PRO_0000295144"
FT   REGION          1..37
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          102..132
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        118..132
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         248
FT                   /note="R -> K (in dbSNP:rs918165)"
FT                   /id="VAR_033220"
FT   VARIANT         312
FT                   /note="R -> Q (in dbSNP:rs3213763)"
FT                   /id="VAR_033221"
FT   VARIANT         381
FT                   /note="R -> Q (in dbSNP:rs2302779)"
FT                   /id="VAR_033222"
FT   VARIANT         415
FT                   /note="K -> R (in dbSNP:rs3087721)"
FT                   /id="VAR_033223"
FT   CONFLICT        163
FT                   /note="A -> T (in Ref. 1; AK093122)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        368
FT                   /note="P -> S (in Ref. 3; AAI12354)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   431 AA;  47639 MW;  BBAF8462594412D0 CRC64;
     MFWRRLRPGA QDLAPKGLPG DGDFRRSSDP RLPKLTPPAL RAALGARGSG DWRIPGGGAA
     WWPEGDAKPG VGVGRLPPRL PALLTATRRA VRKRGLLRSL LPPPLLSAGA SRESAPRQPG
     PGERERPRRR VAREDPDFLG AFLGELLPSR FREFLHQLQE KCAEEPEPLT SPAPQHQRGV
     LEHCPGSPRC PNCSFLPDLW GQSSHLQDSL TKISLQQTPI LGPLKGDHSQ FTTVRKANHR
     PHGAQVPRLK AALTHNPSGE GSRPCRQRCP FRVRFADETL QDTTLRYWER RRSVQQSVIV
     NQKAALPVAS ERVFGSVGKR LESLPKALYP GAKEETLASS SCWDCAGLST QKTQGYLSED
     TSMNSSLPFC SWKKAAAQRP RSSLRAFLDP HRNLEQESLL PNRVLQSVLK QGCPKGYHLL
     LASATLQPDK R