NUDC1_HUMAN
ID NUDC1_HUMAN Reviewed; 583 AA.
AC Q96RS6; B4DVX6; Q4G130; Q8NDQ5; Q8NG18; Q96SI4; Q9BVR5;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=NudC domain-containing protein 1;
DE AltName: Full=Chronic myelogenous leukemia tumor antigen 66;
DE AltName: Full=Tumor antigen CML66;
GN Name=NUDCD1 {ECO:0000312|HGNC:HGNC:24306};
GN Synonyms=CML66 {ECO:0000303|PubMed:11416219};
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] {ECO:0000305, ECO:0000312|EMBL:AAK73017.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, MISCELLANEOUS,
RP AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis {ECO:0000312|EMBL:AAK73017.1};
RX PubMed=11416219; DOI=10.1073/pnas.131590998;
RA Yang X.-F., Wu C.J., McLaughlin S., Chillemi A., Wang K.S., Canning C.,
RA Alyea E.P., Kantoff P., Soiffer R.J., Dranoff G., Ritz J.;
RT "CML66, a broadly immunogenic tumor antigen, elicits a humoral immune
RT response associated with remission of chronic myelogenous leukemia.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:7492-7497(2001).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAQ08823.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, MISCELLANEOUS,
RP AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis {ECO:0000312|EMBL:AAQ08823.1};
RX PubMed=14688378; DOI=10.4049/jimmunol.172.1.651;
RA Yan Y., Phan L., Yang F., Talpaz M., Yang Y., Xiong Z., Ng B.,
RA Timchenko N.A., Wu C.J., Ritz J., Wang H., Yang X.-F.;
RT "A novel mechanism of alternative promoter and splicing regulates the
RT epitope generation of tumor antigen CML66-L.";
RL J. Immunol. 172:651-660(2004).
RN [3] {ECO:0000305, ECO:0000312|EMBL:AAM69373.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS PHE-252 AND VAL-269.
RA Yang X.-F., Wu C.J., Ritz J.;
RT "CML66, a novel tumor antigen elicits humoral immune response associated
RT with remission of chronic myelogenous leukemia.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [4] {ECO:0000305, ECO:0000312|EMBL:BAB55439.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Retinoblastoma {ECO:0000312|EMBL:BAB55439.1}, and Spleen;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [6] {ECO:0000305, ECO:0000312|EMBL:AAH43406.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANTS
RP PHE-252; HIS-394 AND SER-426.
RC TISSUE=Lung {ECO:0000312|EMBL:AAH43406.1},
RC Placenta {ECO:0000312|EMBL:AAH00967.2}, and
RC Testis {ECO:0000312|EMBL:AAH31258.1};
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 195-583, AND VARIANTS PHE-252;
RP VAL-269; HIS-394 AND SER-426.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP SUBCELLULAR LOCATION.
RX PubMed=22002106; DOI=10.1074/mcp.m111.013680;
RA Ahmad Y., Boisvert F.M., Lundberg E., Uhlen M., Lamond A.I.;
RT "Systematic analysis of protein pools, isoforms, and modifications
RT affecting turnover and subcellular localization.";
RL Mol. Cell. Proteomics 11:M111.013680.01-M111.013680.15(2012).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8 AND SER-388, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q96RS6; P53618: COPB1; NbExp=3; IntAct=EBI-2512429, EBI-359063;
CC Q96RS6; Q9Y678: COPG1; NbExp=2; IntAct=EBI-2512429, EBI-1049127;
CC Q96RS6; Q92620: DHX38; NbExp=2; IntAct=EBI-2512429, EBI-1043041;
CC Q96RS6-1; O43143: DHX15; NbExp=2; IntAct=EBI-20724008, EBI-1237044;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Nucleus.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm. Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1 {ECO:0000269|PubMed:11416219, ECO:0000269|PubMed:14702039};
CC Synonyms=CML66-L {ECO:0000269|PubMed:14688378};
CC IsoId=Q96RS6-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:14688378, ECO:0000269|Ref.3};
CC Synonyms=CML66-S {ECO:0000269|PubMed:14688378};
CC IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559;
CC Name=3 {ECO:0000269|PubMed:15489334};
CC IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560;
CC -!- TISSUE SPECIFICITY: Isoform 1 is specifically expressed in leukemias
CC and a variety of solid tumor cell lines and is also detected in testis
CC and heart. Isoform 2 is predominantly expressed in testis and weakly
CC expressed in tumor cells. {ECO:0000269|PubMed:11416219,
CC ECO:0000269|PubMed:14688378}.
CC -!- MISCELLANEOUS: Isoform 1 is the dominant immunogenic isoform and is
CC capable of eliciting a humoral response in individuals with a variety
CC of solid tumors. Expression of isoform 1 in a wide variety of
CC malignancies as well as the presence of an immunogenic epitope suggest
CC that it may be a suitable target for antigen-specific immunotherapy.
CC {ECO:0000269|PubMed:11416219, ECO:0000269|PubMed:14688378}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AF283301; AAK73017.1; -; mRNA.
DR EMBL; AF521133; AAQ08823.1; -; mRNA.
DR EMBL; AF283302; AAM69373.1; -; mRNA.
DR EMBL; AK027897; BAB55439.1; -; mRNA.
DR EMBL; AK301278; BAG62838.1; -; mRNA.
DR EMBL; AC021237; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000967; AAH00967.2; -; mRNA.
DR EMBL; BC031258; AAH31258.1; -; mRNA.
DR EMBL; BC043406; AAH43406.1; -; mRNA.
DR EMBL; AL832317; CAD38612.1; -; mRNA.
DR CCDS; CCDS47910.1; -. [Q96RS6-2]
DR CCDS; CCDS6312.1; -. [Q96RS6-1]
DR RefSeq; NP_001121683.1; NM_001128211.1. [Q96RS6-2]
DR RefSeq; NP_116258.2; NM_032869.3. [Q96RS6-1]
DR RefSeq; XP_016869399.1; XM_017013910.1. [Q96RS6-3]
DR RefSeq; XP_016869400.1; XM_017013911.1. [Q96RS6-3]
DR AlphaFoldDB; Q96RS6; -.
DR SMR; Q96RS6; -.
DR BioGRID; 124387; 40.
DR IntAct; Q96RS6; 256.
DR MINT; Q96RS6; -.
DR STRING; 9606.ENSP00000239690; -.
DR GlyGen; Q96RS6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96RS6; -.
DR MetOSite; Q96RS6; -.
DR PhosphoSitePlus; Q96RS6; -.
DR BioMuta; NUDCD1; -.
DR DMDM; 296439243; -.
DR EPD; Q96RS6; -.
DR jPOST; Q96RS6; -.
DR MassIVE; Q96RS6; -.
DR MaxQB; Q96RS6; -.
DR PaxDb; Q96RS6; -.
DR PeptideAtlas; Q96RS6; -.
DR PRIDE; Q96RS6; -.
DR ProteomicsDB; 78018; -. [Q96RS6-1]
DR ProteomicsDB; 78019; -. [Q96RS6-2]
DR ProteomicsDB; 78020; -. [Q96RS6-3]
DR Antibodypedia; 13450; 115 antibodies from 20 providers.
DR DNASU; 84955; -.
DR Ensembl; ENST00000239690.9; ENSP00000239690.4; ENSG00000120526.12. [Q96RS6-1]
DR Ensembl; ENST00000427660.6; ENSP00000410707.2; ENSG00000120526.12. [Q96RS6-2]
DR GeneID; 84955; -.
DR KEGG; hsa:84955; -.
DR MANE-Select; ENST00000239690.9; ENSP00000239690.4; NM_032869.4; NP_116258.2.
DR UCSC; uc003yna.4; human. [Q96RS6-1]
DR CTD; 84955; -.
DR DisGeNET; 84955; -.
DR GeneCards; NUDCD1; -.
DR HGNC; HGNC:24306; NUDCD1.
DR HPA; ENSG00000120526; Low tissue specificity.
DR MIM; 606109; gene.
DR neXtProt; NX_Q96RS6; -.
DR OpenTargets; ENSG00000120526; -.
DR PharmGKB; PA134985670; -.
DR VEuPathDB; HostDB:ENSG00000120526; -.
DR eggNOG; KOG4379; Eukaryota.
DR GeneTree; ENSGT00390000007776; -.
DR HOGENOM; CLU_021010_1_0_1; -.
DR InParanoid; Q96RS6; -.
DR OMA; ANFDGYK; -.
DR OrthoDB; 1139120at2759; -.
DR PhylomeDB; Q96RS6; -.
DR TreeFam; TF323350; -.
DR PathwayCommons; Q96RS6; -.
DR SignaLink; Q96RS6; -.
DR BioGRID-ORCS; 84955; 25 hits in 1084 CRISPR screens.
DR ChiTaRS; NUDCD1; human.
DR GenomeRNAi; 84955; -.
DR Pharos; Q96RS6; Tbio.
DR PRO; PR:Q96RS6; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96RS6; protein.
DR Bgee; ENSG00000120526; Expressed in secondary oocyte and 179 other tissues.
DR ExpressionAtlas; Q96RS6; baseline and differential.
DR Genevisible; Q96RS6; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0002376; P:immune system process; IEA:UniProtKB-KW.
DR Gene3D; 2.60.40.790; -; 1.
DR InterPro; IPR007052; CS_dom.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR InterPro; IPR037895; NUDCD1.
DR PANTHER; PTHR21664; PTHR21664; 1.
DR Pfam; PF04969; CS; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS51203; CS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Immunity; Nucleus; Phosphoprotein;
KW Reference proteome; Tumor antigen.
FT CHAIN 1..583
FT /note="NudC domain-containing protein 1"
FT /id="PRO_0000307704"
FT DOMAIN 273..361
FT /note="CS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00547"
FT MOD_RES 8
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 388
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..60
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052557"
FT VAR_SEQ 1..29
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14688378, ECO:0000303|Ref.3"
FT /id="VSP_052558"
FT VAR_SEQ 30..39
FT /note="LPCYQLELDA -> MLYLQGWSMP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14688378, ECO:0000303|Ref.3"
FT /id="VSP_052559"
FT VAR_SEQ 64..91
FT /note="YLHCDSWYQDSVYYIDTLGRIMNLTVML -> Q (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052560"
FT VARIANT 252
FT /note="L -> F (in dbSNP:rs2980619)"
FT /evidence="ECO:0000269|PubMed:11416219,
FT ECO:0000269|PubMed:14688378, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.3"
FT /id="VAR_036632"
FT VARIANT 269
FT /note="I -> V (in dbSNP:rs2980618)"
FT /evidence="ECO:0000269|PubMed:11416219,
FT ECO:0000269|PubMed:14688378, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.3"
FT /id="VAR_036633"
FT VARIANT 394
FT /note="N -> H (in dbSNP:rs34660136)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_036634"
FT VARIANT 426
FT /note="N -> S (in dbSNP:rs11550169)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_036635"
FT CONFLICT 403
FT /note="N -> S (in Ref. 2; BAB55439)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 583 AA; 66756 MW; 0BBCD5E0DEC8CA6F CRC64;
MEVAANCSLR VKRPLLDPRF EGYKLSLEPL PCYQLELDAA VAEVKLRDDQ YTLEHMHAFG
MYNYLHCDSW YQDSVYYIDT LGRIMNLTVM LDTALGKPRE VFRLPTDLTA CDNRLCASIH
FSSSTWVTLS DGTGRLYVIG TGERGNSASE KWEIMFNEEL GDPFIIIHSI SLLNAEEHSI
ATLLLRIEKE ELDMKGSGFY VSLEWVTISK KNQDNKKYEI IKRDILRGKS VPHYAAIEPD
GNGLMIVSYK SLTFVQAGQD LEENMDEDIS EKIKEPLYYW QQTEDDLTVT IRLPEDSTKE
DIQIQFLPDH INIVLKDHQF LEGKLYSSID HESSTWIIKE SNSLEISLIK KNEGLTWPEL
VIGDKQGELI RDSAQCAAIA ERLMHLTSEE LNPNPDKEKP PCNAQELEEC DIFFEESSSL
CRFDGNTLKT THVVNLGSNQ YLFSVIVDPK EMPCFCLRHD VDALLWQPHS SKQDDMWEHI
ATFNALGYVQ ASKRDKKFFA CAPNYSYAAL CECLRRVFIY RQPAPMSTVL YNRKEGRQVG
QVAKQQVASL ETNDPILGFQ ATNERLFVLT TKNLFLIKVN TEN
