CNPD1_HUMAN
ID CNPD1_HUMAN Reviewed; 410 AA.
AC Q9BV87; B2RC77; O75548; Q9H4N0; Q9UQN0;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Protein CNPPD1;
DE AltName: Full=Cyclin Pas1/PHO80 domain-containing protein 1;
GN Name=CNPPD1; Synonyms=C2orf24; ORFNames=CDABP0125, CGI-57;
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], AND VARIANTS THR-262; PRO-292 AND
RP PRO-383.
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-383.
RC TISSUE=Leukemia;
RA Zhou J., Yu W., Tang H., Mei G., Tsang Y.T.M., Bouck J., Gibbs R.A.,
RA Margolin J.F.;
RT "Pediatric leukemia cDNA sequencing project.";
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-262; PRO-292 AND
RP PRO-383.
RC TISSUE=Cervix;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-262; PRO-292 AND
RP PRO-383.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-262; PRO-292 AND
RP PRO-383.
RC TISSUE=Colon, and Kidney;
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the CNPPD1 family. {ECO:0000305}.
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DR EMBL; AF151815; AAD34052.1; -; mRNA.
DR EMBL; AY007160; AAG02008.1; -; mRNA.
DR EMBL; AF070638; AAC25393.1; -; mRNA.
DR EMBL; AK314975; BAG37474.1; -; mRNA.
DR EMBL; CR457401; CAG33682.1; -; mRNA.
DR EMBL; AC068946; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001393; AAH01393.1; -; mRNA.
DR EMBL; BC012821; AAH12821.1; -; mRNA.
DR CCDS; CCDS2433.1; -.
DR RefSeq; NP_001308318.1; NM_001321389.1.
DR RefSeq; NP_001308319.1; NM_001321390.1.
DR RefSeq; NP_001308320.1; NM_001321391.1.
DR RefSeq; NP_056495.3; NM_015680.5.
DR AlphaFoldDB; Q9BV87; -.
DR SMR; Q9BV87; -.
DR BioGRID; 117955; 7.
DR IntAct; Q9BV87; 5.
DR STRING; 9606.ENSP00000386277; -.
DR iPTMnet; Q9BV87; -.
DR PhosphoSitePlus; Q9BV87; -.
DR BioMuta; CNPPD1; -.
DR DMDM; 296434422; -.
DR PaxDb; Q9BV87; -.
DR PeptideAtlas; Q9BV87; -.
DR PRIDE; Q9BV87; -.
DR ProteomicsDB; 79182; -.
DR Antibodypedia; 47668; 69 antibodies from 17 providers.
DR DNASU; 27013; -.
DR Ensembl; ENST00000360507.10; ENSP00000353698.5; ENSG00000115649.16.
DR Ensembl; ENST00000409789.5; ENSP00000386277.1; ENSG00000115649.16.
DR GeneID; 27013; -.
DR KEGG; hsa:27013; -.
DR MANE-Select; ENST00000360507.10; ENSP00000353698.5; NM_015680.6; NP_056495.4.
DR UCSC; uc002vju.5; human.
DR CTD; 27013; -.
DR DisGeNET; 27013; -.
DR GeneCards; CNPPD1; -.
DR HGNC; HGNC:25220; CNPPD1.
DR HPA; ENSG00000115649; Low tissue specificity.
DR neXtProt; NX_Q9BV87; -.
DR OpenTargets; ENSG00000115649; -.
DR PharmGKB; PA134874121; -.
DR VEuPathDB; HostDB:ENSG00000115649; -.
DR eggNOG; KOG1674; Eukaryota.
DR GeneTree; ENSGT00390000000862; -.
DR HOGENOM; CLU_051510_0_0_1; -.
DR InParanoid; Q9BV87; -.
DR OMA; GPPSPWY; -.
DR OrthoDB; 1276824at2759; -.
DR PhylomeDB; Q9BV87; -.
DR TreeFam; TF105853; -.
DR PathwayCommons; Q9BV87; -.
DR SignaLink; Q9BV87; -.
DR BioGRID-ORCS; 27013; 11 hits in 1079 CRISPR screens.
DR ChiTaRS; CNPPD1; human.
DR GenomeRNAi; 27013; -.
DR Pharos; Q9BV87; Tdark.
DR PRO; PR:Q9BV87; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9BV87; protein.
DR Bgee; ENSG00000115649; Expressed in mucosa of transverse colon and 201 other tissues.
DR ExpressionAtlas; Q9BV87; baseline and differential.
DR Genevisible; Q9BV87; HS.
DR GO; GO:0000307; C:cyclin-dependent protein kinase holoenzyme complex; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0016538; F:cyclin-dependent protein serine/threonine kinase regulator activity; IBA:GO_Central.
DR GO; GO:0019901; F:protein kinase binding; IEA:InterPro.
DR GO; GO:0000079; P:regulation of cyclin-dependent protein serine/threonine kinase activity; IBA:GO_Central.
DR InterPro; IPR013922; Cyclin_PHO80-like.
DR PANTHER; PTHR15615; PTHR15615; 1.
DR Pfam; PF08613; Cyclin; 1.
PE 2: Evidence at transcript level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..410
FT /note="Protein CNPPD1"
FT /id="PRO_0000089352"
FT TRANSMEM 233..253
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 262
FT /note="I -> T (in dbSNP:rs1043160)"
FT /evidence="ECO:0000269|PubMed:10810093,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_022825"
FT VARIANT 292
FT /note="L -> P (in dbSNP:rs1127102)"
FT /evidence="ECO:0000269|PubMed:10810093,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_024298"
FT VARIANT 344
FT /note="R -> T (in dbSNP:rs1043161)"
FT /id="VAR_056769"
FT VARIANT 366
FT /note="P -> L (in dbSNP:rs17655123)"
FT /id="VAR_024299"
FT VARIANT 383
FT /note="L -> P (in dbSNP:rs4674361)"
FT /evidence="ECO:0000269|PubMed:10810093,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.2, ECO:0000269|Ref.4"
FT /id="VAR_024300"
FT CONFLICT 38
FT /note="R -> G (in Ref. 1; AAD34052)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 410 AA; 45456 MW; 9C0C75F7BF026C6A CRC64;
MDLTGLLLDE EGTFSLAGFQ DFTFLPGHQK LSARIRRRLY YGWDWEADCS LEELSSPVAD
IAVELLQKAA PSPIRRLQKK YVAHVSREAC ISPCAMMLAL VYIERLRHRN PDYLQHVSSS
DLFLISMMVA SKYLYDEGEE EEVFNDEWGA AGGVAVPTLN ALERGFLSAM DWHLYTDPRE
IFEVLSWLES CVAEQQGRWR GWYTYTDLCV LLEQPTWQLA LGSLCQRLVK LSCLLAVAYV
SSVALAVASV AVIHQSLGLS CIPTPGPPDL GLTSRCLLEP CIPSVPQCLP SLANVSSCLE
GSMGLRSLWG SLLASLTPPP LPPPDPPAPP TLLHNCHLCQ KLQRDSPTCH ACLHPNRTVP
TALSSPWYHT YGLAPPWPWS PVLLSLPQPQ QCSLFSVMEL ARLKSFVFPG
