CE046_HUMAN
ID CE046_HUMAN Reviewed; 87 AA.
AC Q6UWT4; A8K038; Q8WU04;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Uncharacterized protein C5orf46;
DE Flags: Precursor;
GN Name=C5orf46; ORFNames=UNQ472/PRO839;
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 1), AND VARIANT ILE-18.
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 MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Prostate;
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 -!- INTERACTION:
CC Q6UWT4; Q13520: AQP6; NbExp=3; IntAct=EBI-11986083, EBI-13059134;
CC Q6UWT4; Q15125: EBP; NbExp=3; IntAct=EBI-11986083, EBI-3915253;
CC Q6UWT4; Q96KR6: FAM210B; NbExp=3; IntAct=EBI-11986083, EBI-18938272;
CC Q6UWT4; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-11986083, EBI-2820517;
CC Q6UWT4; O00623: PEX12; NbExp=3; IntAct=EBI-11986083, EBI-594836;
CC Q6UWT4; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-11986083, EBI-8636004;
CC Q6UWT4; O43765: SGTA; NbExp=3; IntAct=EBI-11986083, EBI-347996;
CC Q6UWT4; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-11986083, EBI-744081;
CC Q6UWT4; Q9BRI3: SLC30A2; NbExp=5; IntAct=EBI-11986083, EBI-8644112;
CC Q6UWT4; Q0VAB0: TBXA2R; NbExp=3; IntAct=EBI-11986083, EBI-18271435;
CC Q6UWT4; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-11986083, EBI-6268651;
CC Q6UWT4; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-11986083, EBI-11742770;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6UWT4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWT4-2; Sequence=VSP_031115;
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DR EMBL; AK289403; BAF82092.1; -; mRNA.
DR EMBL; AY358656; AAQ89019.1; -; mRNA.
DR EMBL; AC011352; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021680; AAH21680.1; -; mRNA.
DR CCDS; CCDS34267.1; -. [Q6UWT4-1]
DR RefSeq; NP_996849.2; NM_206966.2. [Q6UWT4-1]
DR AlphaFoldDB; Q6UWT4; -.
DR BioGRID; 133099; 23.
DR IntAct; Q6UWT4; 14.
DR STRING; 9606.ENSP00000315370; -.
DR iPTMnet; Q6UWT4; -.
DR PhosphoSitePlus; Q6UWT4; -.
DR BioMuta; C5orf46; -.
DR DMDM; 296434440; -.
DR MassIVE; Q6UWT4; -.
DR PaxDb; Q6UWT4; -.
DR PeptideAtlas; Q6UWT4; -.
DR PRIDE; Q6UWT4; -.
DR ProteomicsDB; 67521; -. [Q6UWT4-1]
DR DNASU; 389336; -.
DR Ensembl; ENST00000318315.5; ENSP00000315370.4; ENSG00000178776.5. [Q6UWT4-1]
DR Ensembl; ENST00000515291.1; ENSP00000425984.1; ENSG00000178776.5. [Q6UWT4-2]
DR GeneID; 389336; -.
DR KEGG; hsa:389336; -.
DR MANE-Select; ENST00000318315.5; ENSP00000315370.4; NM_206966.3; NP_996849.2.
DR UCSC; uc003lou.4; human. [Q6UWT4-1]
DR CTD; 389336; -.
DR DisGeNET; 389336; -.
DR GeneCards; C5orf46; -.
DR HGNC; HGNC:33768; C5orf46.
DR HPA; ENSG00000178776; Group enriched (salivary gland, skin).
DR neXtProt; NX_Q6UWT4; -.
DR OpenTargets; ENSG00000178776; -.
DR PharmGKB; PA162380305; -.
DR VEuPathDB; HostDB:ENSG00000178776; -.
DR eggNOG; ENOG502TEYM; Eukaryota.
DR GeneTree; ENSGT00390000011484; -.
DR HOGENOM; CLU_171946_0_0_1; -.
DR InParanoid; Q6UWT4; -.
DR OMA; VLILTCQ; -.
DR OrthoDB; 1620393at2759; -.
DR PhylomeDB; Q6UWT4; -.
DR TreeFam; TF338370; -.
DR PathwayCommons; Q6UWT4; -.
DR SignaLink; Q6UWT4; -.
DR BioGRID-ORCS; 389336; 10 hits in 1050 CRISPR screens.
DR ChiTaRS; C5orf46; human.
DR GenomeRNAi; 389336; -.
DR Pharos; Q6UWT4; Tdark.
DR PRO; PR:Q6UWT4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6UWT4; protein.
DR Bgee; ENSG00000178776; Expressed in upper leg skin and 108 other tissues.
DR Genevisible; Q6UWT4; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR InterPro; IPR027950; DUF4576.
DR PANTHER; PTHR37864; PTHR37864; 1.
DR Pfam; PF15144; DUF4576; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..87
FT /note="Uncharacterized protein C5orf46"
FT /id="PRO_0000317636"
FT REGION 24..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 24..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 73..87
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031115"
FT VARIANT 18
FT /note="F -> I (in dbSNP:rs7722926)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_056787"
FT CONFLICT 4
FT /note="S -> L (in Ref. 2; AAQ89019 and 4; AAH21680)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 87 AA; 9693 MW; 07C1D266BF79041E CRC64;
MAVSVLRLTV VLGLLVLFLT CYADDKPDKP DDKPDDSGKD PKPDFPKFLS LLGTEIIENA
VEFILRSMSR STGFMEFDDN EGKHSSK
