CB073_HUMAN
ID CB073_HUMAN Reviewed; 287 AA.
AC Q8N5S3; A0AV79; A0AV81; Q8N7V4;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 102.
DE RecName: Full=Uncharacterized protein C2orf73;
GN Name=C2orf73;
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] (ISOFORM 2), AND VARIANTS LEU-254
RP AND THR-275.
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LEU-254 AND
RP THR-275.
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] (ISOFORMS 1 AND 2), AND VARIANT
RP LEU-254.
RC TISSUE=Brain;
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=Q8N5S3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N5S3-2; Sequence=VSP_033353;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH31669.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK097617; BAC05122.1; -; mRNA.
DR EMBL; AC108929; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471053; EAX00150.1; -; Genomic_DNA.
DR EMBL; BC031669; AAH31669.1; ALT_INIT; mRNA.
DR EMBL; BC126244; AAI26245.1; -; mRNA.
DR EMBL; BC126246; AAI26247.1; -; mRNA.
DR CCDS; CCDS46285.1; -. [Q8N5S3-1]
DR RefSeq; NP_001093866.1; NM_001100396.1. [Q8N5S3-1]
DR RefSeq; XP_005264190.1; XM_005264133.1.
DR RefSeq; XP_005264191.1; XM_005264134.3. [Q8N5S3-2]
DR RefSeq; XP_011530812.1; XM_011532510.2.
DR RefSeq; XP_011530815.1; XM_011532513.2. [Q8N5S3-2]
DR AlphaFoldDB; Q8N5S3; -.
DR BioGRID; 126212; 26.
DR IntAct; Q8N5S3; 3.
DR STRING; 9606.ENSP00000381631; -.
DR PhosphoSitePlus; Q8N5S3; -.
DR BioMuta; C2orf73; -.
DR MassIVE; Q8N5S3; -.
DR PaxDb; Q8N5S3; -.
DR PeptideAtlas; Q8N5S3; -.
DR PRIDE; Q8N5S3; -.
DR Antibodypedia; 66471; 10 antibodies from 6 providers.
DR DNASU; 129852; -.
DR Ensembl; ENST00000398634.7; ENSP00000381631.2; ENSG00000177994.16. [Q8N5S3-1]
DR GeneID; 129852; -.
DR KEGG; hsa:129852; -.
DR MANE-Select; ENST00000398634.7; ENSP00000381631.2; NM_001100396.2; NP_001093866.1.
DR UCSC; uc002rxt.1; human. [Q8N5S3-1]
DR CTD; 129852; -.
DR DisGeNET; 129852; -.
DR GeneCards; C2orf73; -.
DR HGNC; HGNC:26861; C2orf73.
DR HPA; ENSG00000177994; Tissue enriched (testis).
DR neXtProt; NX_Q8N5S3; -.
DR OpenTargets; ENSG00000177994; -.
DR PharmGKB; PA162379532; -.
DR VEuPathDB; HostDB:ENSG00000177994; -.
DR eggNOG; ENOG502S2FJ; Eukaryota.
DR GeneTree; ENSGT00390000005045; -.
DR InParanoid; Q8N5S3; -.
DR OMA; PVKHSRM; -.
DR OrthoDB; 1586889at2759; -.
DR PhylomeDB; Q8N5S3; -.
DR TreeFam; TF337686; -.
DR PathwayCommons; Q8N5S3; -.
DR SignaLink; Q8N5S3; -.
DR BioGRID-ORCS; 129852; 10 hits in 1051 CRISPR screens.
DR GenomeRNAi; 129852; -.
DR Pharos; Q8N5S3; Tdark.
DR PRO; PR:Q8N5S3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N5S3; protein.
DR Bgee; ENSG00000177994; Expressed in left testis and 101 other tissues.
DR ExpressionAtlas; Q8N5S3; baseline and differential.
DR Genevisible; Q8N5S3; HS.
DR InterPro; IPR031365; GDWWSH.
DR PANTHER; PTHR35087; PTHR35087; 1.
DR Pfam; PF15667; GDWWSH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..287
FT /note="Uncharacterized protein C2orf73"
FT /id="PRO_0000332213"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 179..287
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..38
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 214..234
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 254..271
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..121
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_033353"
FT VARIANT 29
FT /note="H -> N (in dbSNP:rs55714450)"
FT /id="VAR_061571"
FT VARIANT 254
FT /note="P -> L (in dbSNP:rs2280718)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_042973"
FT VARIANT 275
FT /note="R -> T (in dbSNP:rs13184)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_042974"
SQ SEQUENCE 287 AA; 32142 MW; 9AFD7EBA65BCE7C0 CRC64;
MEEKEDKHQQ HKIEDAAITY VSENEEIKHE EKPGKSIHHS KSHVGRGRIY YAKFINTNAR
TYNEPFPYID PKKGPEIQGD WWSHGKALEP VFLPPYDSKS TQRSDFQKPS CPLVLPVKHS
KMQKPSCGIV PLASPGTSAE LQNNFIEYIS FIHQYDARKT PNEPLQGKRH GAFVQREIKP
GSRPTVPKGA EVLLNTPGSR SSEQSKKTEK GNSAESRMIS PGLCQQNSQE LLEPKTHLSE
TDVRQAAKAC PSTPESREKT SGATQTTVGD ALFTRHKPLN PPIKKSE
