Full text data of NUDCD1
NUDCD1
(CML66)
[Confidence: low (only semi-automatic identification from reviews)]
NudC domain-containing protein 1 (Chronic myelogenous leukemia tumor antigen 66; Tumor antigen CML66)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
NudC domain-containing protein 1 (Chronic myelogenous leukemia tumor antigen 66; Tumor antigen CML66)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q96RS6
ID NUDC1_HUMAN Reviewed; 583 AA.
AC Q96RS6; B4DVX6; Q4G130; Q8NDQ5; Q8NG18; Q96SI4; Q9BVR5;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 18-MAY-2010, sequence version 2.
DT 22-JAN-2014, entry version 78.
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; Synonyms=CML66;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY,
RP MISCELLANEOUS, AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis;
RX PubMed=11416219; DOI=10.1073/pnas.131590998;
RA Yang X.-F., Wu C.J., McLaughlin S., Chillemi A., Wang K.S.,
RA Canning C., 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]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY,
RP MISCELLANEOUS, AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis;
RX PubMed=14688378;
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]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS PHE-252 AND
RP VAL-269.
RA Yang X.-F., Wu C.J., Ritz J.;
RT "CML66, a novel tumor antigen elicits humoral immune response
RT associated with remission of chronic myelogenous leukemia.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Retinoblastoma, 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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA 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.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND
RP VARIANTS VARIANTS PHE-252; HIS-394 AND SER-426.
RC TISSUE=Lung, Placenta, and Testis;
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
RT project: 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
RP PHE-252; 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.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., 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.,
RA Buerckstuemmer T., 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.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
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; Synonyms=CML66-L;
CC IsoId=Q96RS6-1; Sequence=Displayed;
CC Name=2; Synonyms=CML66-S;
CC IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559;
CC Name=3;
CC IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560;
CC Note=May be produced at very low levels due to a premature stop
CC codon in the mRNA, leading to nonsense-mediated mRNA decay;
CC -!- TISSUE SPECIFICITY: Isoform 1 is specifically expressed in
CC leukemias and a variety of solid tumor cell lines and is also
CC detected in testis and heart. Isoform 2 is predominantly expressed
CC in testis and weakly expressed in tumor cells.
CC -!- MISCELLANEOUS: Isoform 1 is the dominant immunogenic isoform and
CC is capable of eliciting a humoral response in individuals with a
CC variety of solid tumors. Expression of isoform 1 in a wide variety
CC of malignancies as well as the presence of an immunogenic epitope
CC suggest that it may be a suitable target for antigen-specific
CC immunotherapy.
CC -!- SIMILARITY: Contains 1 CS domain.
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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 RefSeq; NP_001121683.1; NM_001128211.1.
DR RefSeq; NP_116258.2; NM_032869.3.
DR RefSeq; XP_005251143.1; XM_005251086.1.
DR UniGene; Hs.380291; -.
DR ProteinModelPortal; Q96RS6; -.
DR IntAct; Q96RS6; 1.
DR STRING; 9606.ENSP00000239690; -.
DR PhosphoSite; Q96RS6; -.
DR DMDM; 296439243; -.
DR PaxDb; Q96RS6; -.
DR PRIDE; Q96RS6; -.
DR Ensembl; ENST00000239690; ENSP00000239690; ENSG00000120526.
DR Ensembl; ENST00000427660; ENSP00000410707; ENSG00000120526.
DR GeneID; 84955; -.
DR KEGG; hsa:84955; -.
DR UCSC; uc003ynb.4; human.
DR CTD; 84955; -.
DR GeneCards; GC08M110323; -.
DR H-InvDB; HIX0007725; -.
DR HGNC; HGNC:24306; NUDCD1.
DR HPA; HPA023183; -.
DR MIM; 606109; gene.
DR neXtProt; NX_Q96RS6; -.
DR PharmGKB; PA134985670; -.
DR eggNOG; NOG276664; -.
DR HOVERGEN; HBG104995; -.
DR InParanoid; Q96RS6; -.
DR OMA; FIYRQPA; -.
DR OrthoDB; EOG7PGDQ6; -.
DR PhylomeDB; Q96RS6; -.
DR ChiTaRS; NUDCD1; human.
DR GenomeRNAi; 84955; -.
DR NextBio; 75454; -.
DR PRO; PR:Q96RS6; -.
DR ArrayExpress; Q96RS6; -.
DR Bgee; Q96RS6; -.
DR CleanEx; HS_NUDCD1; -.
DR Genevestigator; Q96RS6; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR007052; CS_dom.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR Pfam; PF04969; CS; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS51203; CS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Cytoplasm; Immunity; Nucleus;
KW Polymorphism; Reference proteome; Tumor antigen.
FT CHAIN 1 583 NudC domain-containing protein 1.
FT /FTId=PRO_0000307704.
FT DOMAIN 273 361 CS.
FT VAR_SEQ 1 60 Missing (in isoform 3).
FT /FTId=VSP_052557.
FT VAR_SEQ 1 29 Missing (in isoform 2).
FT /FTId=VSP_052558.
FT VAR_SEQ 30 39 LPCYQLELDA -> MLYLQGWSMP (in isoform 2).
FT /FTId=VSP_052559.
FT VAR_SEQ 64 91 YLHCDSWYQDSVYYIDTLGRIMNLTVML -> Q (in
FT isoform 3).
FT /FTId=VSP_052560.
FT VARIANT 252 252 L -> F (in dbSNP:rs2980619).
FT /FTId=VAR_036632.
FT VARIANT 269 269 I -> V (in dbSNP:rs2980618).
FT /FTId=VAR_036633.
FT VARIANT 394 394 N -> H (in dbSNP:rs34660136).
FT /FTId=VAR_036634.
FT VARIANT 426 426 N -> S (in dbSNP:rs11550169).
FT /FTId=VAR_036635.
FT CONFLICT 403 403 N -> S (in Ref. 2; BAB55439).
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
//
ID NUDC1_HUMAN Reviewed; 583 AA.
AC Q96RS6; B4DVX6; Q4G130; Q8NDQ5; Q8NG18; Q96SI4; Q9BVR5;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 18-MAY-2010, sequence version 2.
DT 22-JAN-2014, entry version 78.
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; Synonyms=CML66;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY,
RP MISCELLANEOUS, AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis;
RX PubMed=11416219; DOI=10.1073/pnas.131590998;
RA Yang X.-F., Wu C.J., McLaughlin S., Chillemi A., Wang K.S.,
RA Canning C., 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]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY,
RP MISCELLANEOUS, AND VARIANTS PHE-252 AND VAL-269.
RC TISSUE=Testis;
RX PubMed=14688378;
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]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS PHE-252 AND
RP VAL-269.
RA Yang X.-F., Wu C.J., Ritz J.;
RT "CML66, a novel tumor antigen elicits humoral immune response
RT associated with remission of chronic myelogenous leukemia.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Retinoblastoma, 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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA 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.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND
RP VARIANTS VARIANTS PHE-252; HIS-394 AND SER-426.
RC TISSUE=Lung, Placenta, and Testis;
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
RT project: 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
RP PHE-252; 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.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., 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.,
RA Buerckstuemmer T., 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.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
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; Synonyms=CML66-L;
CC IsoId=Q96RS6-1; Sequence=Displayed;
CC Name=2; Synonyms=CML66-S;
CC IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559;
CC Name=3;
CC IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560;
CC Note=May be produced at very low levels due to a premature stop
CC codon in the mRNA, leading to nonsense-mediated mRNA decay;
CC -!- TISSUE SPECIFICITY: Isoform 1 is specifically expressed in
CC leukemias and a variety of solid tumor cell lines and is also
CC detected in testis and heart. Isoform 2 is predominantly expressed
CC in testis and weakly expressed in tumor cells.
CC -!- MISCELLANEOUS: Isoform 1 is the dominant immunogenic isoform and
CC is capable of eliciting a humoral response in individuals with a
CC variety of solid tumors. Expression of isoform 1 in a wide variety
CC of malignancies as well as the presence of an immunogenic epitope
CC suggest that it may be a suitable target for antigen-specific
CC immunotherapy.
CC -!- SIMILARITY: Contains 1 CS domain.
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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 RefSeq; NP_001121683.1; NM_001128211.1.
DR RefSeq; NP_116258.2; NM_032869.3.
DR RefSeq; XP_005251143.1; XM_005251086.1.
DR UniGene; Hs.380291; -.
DR ProteinModelPortal; Q96RS6; -.
DR IntAct; Q96RS6; 1.
DR STRING; 9606.ENSP00000239690; -.
DR PhosphoSite; Q96RS6; -.
DR DMDM; 296439243; -.
DR PaxDb; Q96RS6; -.
DR PRIDE; Q96RS6; -.
DR Ensembl; ENST00000239690; ENSP00000239690; ENSG00000120526.
DR Ensembl; ENST00000427660; ENSP00000410707; ENSG00000120526.
DR GeneID; 84955; -.
DR KEGG; hsa:84955; -.
DR UCSC; uc003ynb.4; human.
DR CTD; 84955; -.
DR GeneCards; GC08M110323; -.
DR H-InvDB; HIX0007725; -.
DR HGNC; HGNC:24306; NUDCD1.
DR HPA; HPA023183; -.
DR MIM; 606109; gene.
DR neXtProt; NX_Q96RS6; -.
DR PharmGKB; PA134985670; -.
DR eggNOG; NOG276664; -.
DR HOVERGEN; HBG104995; -.
DR InParanoid; Q96RS6; -.
DR OMA; FIYRQPA; -.
DR OrthoDB; EOG7PGDQ6; -.
DR PhylomeDB; Q96RS6; -.
DR ChiTaRS; NUDCD1; human.
DR GenomeRNAi; 84955; -.
DR NextBio; 75454; -.
DR PRO; PR:Q96RS6; -.
DR ArrayExpress; Q96RS6; -.
DR Bgee; Q96RS6; -.
DR CleanEx; HS_NUDCD1; -.
DR Genevestigator; Q96RS6; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR007052; CS_dom.
DR InterPro; IPR008978; HSP20-like_chaperone.
DR Pfam; PF04969; CS; 1.
DR SUPFAM; SSF49764; SSF49764; 1.
DR PROSITE; PS51203; CS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Cytoplasm; Immunity; Nucleus;
KW Polymorphism; Reference proteome; Tumor antigen.
FT CHAIN 1 583 NudC domain-containing protein 1.
FT /FTId=PRO_0000307704.
FT DOMAIN 273 361 CS.
FT VAR_SEQ 1 60 Missing (in isoform 3).
FT /FTId=VSP_052557.
FT VAR_SEQ 1 29 Missing (in isoform 2).
FT /FTId=VSP_052558.
FT VAR_SEQ 30 39 LPCYQLELDA -> MLYLQGWSMP (in isoform 2).
FT /FTId=VSP_052559.
FT VAR_SEQ 64 91 YLHCDSWYQDSVYYIDTLGRIMNLTVML -> Q (in
FT isoform 3).
FT /FTId=VSP_052560.
FT VARIANT 252 252 L -> F (in dbSNP:rs2980619).
FT /FTId=VAR_036632.
FT VARIANT 269 269 I -> V (in dbSNP:rs2980618).
FT /FTId=VAR_036633.
FT VARIANT 394 394 N -> H (in dbSNP:rs34660136).
FT /FTId=VAR_036634.
FT VARIANT 426 426 N -> S (in dbSNP:rs11550169).
FT /FTId=VAR_036635.
FT CONFLICT 403 403 N -> S (in Ref. 2; BAB55439).
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
//
MIM
606109
*RECORD*
*FIELD* NO
606109
*FIELD* TI
*606109 NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1
;;IMMUNOGENIC TUMOR ANTIGEN CML66; CML66
read more*FIELD* TX
CLONING
By screening a chronic myelogenous leukemia (CML; 608232) cDNA
expression library, followed by screening a normal human testis cDNA
library, Yang et al. (2001) cloned the NUDCD1 gene, which they called
CML66. The CML66 gene encodes a 583-amino acid protein with a molecular
mass of 66 kD that is expressed in leukemias and a variety of solid
tumor cell lines. Northern blot analysis showed expression in normal
tissues restricted to testis and heart, and no expression was found in
hematopoietic tissues. Expression in CML cells examined by quantitative
RT-PCR was 1.5-fold higher than in normal peripheral blood mononuclear
cells. The presence of CML66-specific antibody in patient serum was
confirmed by Western blot and the development of high-titer IgG antibody
specific for CML66 correlated with immune-induced remission of CML in a
patient who received infusion of normal donor lymphocytes for treatment
of relapse. CML66 antibody also was found in sera from 18 to 38% of
patients with lung cancer, melanoma, or prostate cancer. Yang et al.
(2001) suggested that CML66 may be immunogenic in a wide variety of
malignancies and may be a target for antigen-specific immunotherapy.
MAPPING
By fluorescence in situ hybridization, Yang et al. (2001) mapped the
NUDCD1 gene to chromosome 8q23.
*FIELD* RF
1. Yang, X.-F.; Wu, C. J.; McLaughlin, S.; Chillemi, A.; Wang, K.
S.; Canning, C.; Alyea, E. P.; Kantoff, P.; Soiffer, R. J.; Dranoff,
G.; Ritz, J.: CML66, a broadly immunogenic tumor antigen, elicits
a humoral immune response associated with remission of chronic myelogenous
leukemia. Proc. Nat. Acad. Sci. 98: 7492-7497, 2001.
*FIELD* CN
Patricia A. Hartz - updated: 08/04/2006
*FIELD* CD
Victor A. McKusick: 7/13/2001
*FIELD* ED
wwang: 08/04/2006
alopez: 11/17/2003
alopez: 7/13/2001
*RECORD*
*FIELD* NO
606109
*FIELD* TI
*606109 NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1
;;IMMUNOGENIC TUMOR ANTIGEN CML66; CML66
read more*FIELD* TX
CLONING
By screening a chronic myelogenous leukemia (CML; 608232) cDNA
expression library, followed by screening a normal human testis cDNA
library, Yang et al. (2001) cloned the NUDCD1 gene, which they called
CML66. The CML66 gene encodes a 583-amino acid protein with a molecular
mass of 66 kD that is expressed in leukemias and a variety of solid
tumor cell lines. Northern blot analysis showed expression in normal
tissues restricted to testis and heart, and no expression was found in
hematopoietic tissues. Expression in CML cells examined by quantitative
RT-PCR was 1.5-fold higher than in normal peripheral blood mononuclear
cells. The presence of CML66-specific antibody in patient serum was
confirmed by Western blot and the development of high-titer IgG antibody
specific for CML66 correlated with immune-induced remission of CML in a
patient who received infusion of normal donor lymphocytes for treatment
of relapse. CML66 antibody also was found in sera from 18 to 38% of
patients with lung cancer, melanoma, or prostate cancer. Yang et al.
(2001) suggested that CML66 may be immunogenic in a wide variety of
malignancies and may be a target for antigen-specific immunotherapy.
MAPPING
By fluorescence in situ hybridization, Yang et al. (2001) mapped the
NUDCD1 gene to chromosome 8q23.
*FIELD* RF
1. Yang, X.-F.; Wu, C. J.; McLaughlin, S.; Chillemi, A.; Wang, K.
S.; Canning, C.; Alyea, E. P.; Kantoff, P.; Soiffer, R. J.; Dranoff,
G.; Ritz, J.: CML66, a broadly immunogenic tumor antigen, elicits
a humoral immune response associated with remission of chronic myelogenous
leukemia. Proc. Nat. Acad. Sci. 98: 7492-7497, 2001.
*FIELD* CN
Patricia A. Hartz - updated: 08/04/2006
*FIELD* CD
Victor A. McKusick: 7/13/2001
*FIELD* ED
wwang: 08/04/2006
alopez: 11/17/2003
alopez: 7/13/2001