CV039_HUMAN
ID CV039_HUMAN Reviewed; 142 AA.
AC Q6P5X5; A8MTW6; D3DX18; F5H3A8; J3KNP9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2013, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=UPF0545 protein C22orf39;
GN Name=C22orf39;
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).
RC TISSUE=Substantia nigra;
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=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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] OF 35-105 (ISOFORM 1).
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 37-105 (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
CC -!- INTERACTION:
CC Q6P5X5; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-7317823, EBI-11954519;
CC Q6P5X5; P15289: ARSA; NbExp=3; IntAct=EBI-7317823, EBI-2117357;
CC Q6P5X5; Q8N9N5: BANP; NbExp=3; IntAct=EBI-7317823, EBI-744695;
CC Q6P5X5; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-7317823, EBI-12011224;
CC Q6P5X5; Q8TAP6: CEP76; NbExp=6; IntAct=EBI-7317823, EBI-742887;
CC Q6P5X5; P28329-3: CHAT; NbExp=3; IntAct=EBI-7317823, EBI-25837549;
CC Q6P5X5; P27658: COL8A1; NbExp=3; IntAct=EBI-7317823, EBI-747133;
CC Q6P5X5; P53672: CRYBA2; NbExp=3; IntAct=EBI-7317823, EBI-750444;
CC Q6P5X5; A8MQ03: CYSRT1; NbExp=6; IntAct=EBI-7317823, EBI-3867333;
CC Q6P5X5; G5E9A7: DMWD; NbExp=3; IntAct=EBI-7317823, EBI-10976677;
CC Q6P5X5; Q86UW9: DTX2; NbExp=5; IntAct=EBI-7317823, EBI-740376;
CC Q6P5X5; Q96B26: EXOSC8; NbExp=3; IntAct=EBI-7317823, EBI-371922;
CC Q6P5X5; P22607: FGFR3; NbExp=3; IntAct=EBI-7317823, EBI-348399;
CC Q6P5X5; O43559: FRS3; NbExp=3; IntAct=EBI-7317823, EBI-725515;
CC Q6P5X5; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-7317823, EBI-11975289;
CC Q6P5X5; P28799: GRN; NbExp=3; IntAct=EBI-7317823, EBI-747754;
CC Q6P5X5; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-7317823, EBI-3918847;
CC Q6P5X5; Q02363: ID2; NbExp=3; IntAct=EBI-7317823, EBI-713450;
CC Q6P5X5; Q02535: ID3; NbExp=3; IntAct=EBI-7317823, EBI-1387094;
CC Q6P5X5; Q0VD86: INCA1; NbExp=3; IntAct=EBI-7317823, EBI-6509505;
CC Q6P5X5; P60412: KRTAP10-11; NbExp=3; IntAct=EBI-7317823, EBI-10217483;
CC Q6P5X5; P60410: KRTAP10-8; NbExp=5; IntAct=EBI-7317823, EBI-10171774;
CC Q6P5X5; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-7317823, EBI-10172052;
CC Q6P5X5; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-7317823, EBI-11953334;
CC Q6P5X5; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-7317823, EBI-11953846;
CC Q6P5X5; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-7317823, EBI-10250562;
CC Q6P5X5; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-7317823, EBI-1044640;
CC Q6P5X5; P43364: MAGEA11; NbExp=3; IntAct=EBI-7317823, EBI-739552;
CC Q6P5X5; Q99750: MDFI; NbExp=3; IntAct=EBI-7317823, EBI-724076;
CC Q6P5X5; Q8NCF5-2: NFATC2IP; NbExp=5; IntAct=EBI-7317823, EBI-12305293;
CC Q6P5X5; Q92824-2: PCSK5; NbExp=3; IntAct=EBI-7317823, EBI-11956269;
CC Q6P5X5; Q99471: PFDN5; NbExp=3; IntAct=EBI-7317823, EBI-357275;
CC Q6P5X5; Q9NRY6: PLSCR3; NbExp=3; IntAct=EBI-7317823, EBI-750734;
CC Q6P5X5; P25786: PSMA1; NbExp=3; IntAct=EBI-7317823, EBI-359352;
CC Q6P5X5; Q93062: RBPMS; NbExp=3; IntAct=EBI-7317823, EBI-740322;
CC Q6P5X5; Q6P9E2: RECK; NbExp=3; IntAct=EBI-7317823, EBI-10253121;
CC Q6P5X5; Q9UFD9: RIMBP3; NbExp=3; IntAct=EBI-7317823, EBI-10182375;
CC Q6P5X5; Q86XE0: SNX32; NbExp=3; IntAct=EBI-7317823, EBI-8099743;
CC Q6P5X5; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-7317823, EBI-5235340;
CC Q6P5X5; Q63HR2: TNS2; NbExp=3; IntAct=EBI-7317823, EBI-949753;
CC Q6P5X5; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-7317823, EBI-492476;
CC Q6P5X5; B2RUY7: VWC2L; NbExp=5; IntAct=EBI-7317823, EBI-11747707;
CC Q6P5X5; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-7317823, EBI-4395669;
CC Q6P5X5-2; P28799: GRN; NbExp=3; IntAct=EBI-10692329, EBI-747754;
CC Q6P5X5-2; P42858: HTT; NbExp=3; IntAct=EBI-10692329, EBI-466029;
CC Q6P5X5-2; O76024: WFS1; NbExp=3; IntAct=EBI-10692329, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6P5X5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P5X5-2; Sequence=VSP_046502;
CC -!- SIMILARITY: Belongs to the UPF0545 family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-38 is the initiator.
CC Orthologous sequences cannot be extended. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH62599.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAF82762.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAG30225.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAX03040.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK290073; BAF82762.1; ALT_INIT; mRNA.
DR EMBL; AC000068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC000079; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC000085; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC000092; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471176; EAX03039.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX03040.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471176; EAX03041.1; -; Genomic_DNA.
DR EMBL; BC062599; AAH62599.1; ALT_INIT; mRNA.
DR EMBL; CR456339; CAG30225.1; ALT_INIT; mRNA.
DR RefSeq; NP_001159714.1; NM_001166242.1.
DR RefSeq; NP_776154.3; NM_173793.4.
DR AlphaFoldDB; Q6P5X5; -.
DR BioGRID; 126177; 47.
DR IntAct; Q6P5X5; 47.
DR MINT; Q6P5X5; -.
DR STRING; 9606.ENSP00000382474; -.
DR iPTMnet; Q6P5X5; -.
DR PhosphoSitePlus; Q6P5X5; -.
DR BioMuta; C22orf39; -.
DR DMDM; 510120816; -.
DR EPD; Q6P5X5; -.
DR MassIVE; Q6P5X5; -.
DR MaxQB; Q6P5X5; -.
DR PaxDb; Q6P5X5; -.
DR PeptideAtlas; Q6P5X5; -.
DR PRIDE; Q6P5X5; -.
DR ProteomicsDB; 67009; -. [Q6P5X5-1]
DR Antibodypedia; 76439; 14 antibodies from 7 providers.
DR DNASU; 128977; -.
DR Ensembl; ENST00000399562.9; ENSP00000382474.5; ENSG00000242259.9.
DR GeneID; 128977; -.
DR KEGG; hsa:128977; -.
DR UCSC; uc002zpi.4; human. [Q6P5X5-1]
DR CTD; 128977; -.
DR DisGeNET; 128977; -.
DR GeneCards; C22orf39; -.
DR HGNC; HGNC:27012; C22orf39.
DR HPA; ENSG00000242259; Tissue enhanced (skeletal).
DR neXtProt; NX_Q6P5X5; -.
DR PharmGKB; PA162378995; -.
DR VEuPathDB; HostDB:ENSG00000242259; -.
DR eggNOG; ENOG502S4W2; Eukaryota.
DR HOGENOM; CLU_2164004_0_0_1; -.
DR InParanoid; Q6P5X5; -.
DR OrthoDB; 1541651at2759; -.
DR PhylomeDB; Q6P5X5; -.
DR TreeFam; TF324380; -.
DR PathwayCommons; Q6P5X5; -.
DR SignaLink; Q6P5X5; -.
DR BioGRID-ORCS; 128977; 18 hits in 1052 CRISPR screens.
DR ChiTaRS; C22orf39; human.
DR GenomeRNAi; 128977; -.
DR Pharos; Q6P5X5; Tdark.
DR PRO; PR:Q6P5X5; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q6P5X5; protein.
DR Bgee; ENSG00000242259; Expressed in gastrocnemius and 179 other tissues.
DR ExpressionAtlas; Q6P5X5; baseline and differential.
DR Genevisible; Q6P5X5; HS.
DR InterPro; IPR021475; DUF3128.
DR PANTHER; PTHR28052; PTHR28052; 1.
DR Pfam; PF11326; DUF3128; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..142
FT /note="UPF0545 protein C22orf39"
FT /id="PRO_0000326130"
FT VAR_SEQ 102..142
FT /note="QSLCESERARVRAARKHILVWAPRQSPPPDWHLPLPQEKDE -> VLSVVAH
FT TCNLSYLGG (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046502"
SQ SEQUENCE 142 AA; 16805 MW; 1FA5A0AAE4CD6EDD CRC64;
MCRCSLVLLS VDHEVPFSSF FIGWRTEGRA WRAGRPDMAD GSGWQPPRPC EAYRAEWKLC
RSARHFLHHY YVHGERPACE QWQRDLASCR DWEERRNAEA QQSLCESERA RVRAARKHIL
VWAPRQSPPP DWHLPLPQEK DE
