ID NIP7_HUMAN Reviewed; 180 AA. AC Q9Y221; B2RD04; Q9NZZ0; DT 07-DEC-2004, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1999, sequence version 1. DT 16-OCT-2013, entry version 110. DE RecName: Full=60S ribosome subunit biogenesis protein NIP7 homolog; DE AltName: Full=KD93; GN Name=NIP7; GN ORFNames=CGI-37, HSPC031, HSPC180, OK/SW-cl.76, OK/SW-cl.78; 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 [LARGE SCALE MRNA] (ISOFORM 1). 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] (ISOFORMS 1 AND 2). RC TISSUE=Umbilical cord blood; RX PubMed=11042152; DOI=10.1101/gr.140200; RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.; RT "Cloning and functional analysis of cDNAs with open reading frames for RT 300 previously undefined genes expressed in CD34+ hematopoietic RT stem/progenitor cells."; RL Genome Res. 10:1546-1560(2000). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Colon adenocarcinoma; RA Shichijo S., Itoh K.; RT "Identification of immuno-peptidmics that are recognized by tumor- RT reactive CTL generated from TIL of colon cancer patients."; RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Periodontal ligament; RA Myokai F.; RT "Mechanical stress-induced gene 26-1, 26-2."; RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Skin; 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 [8] RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY. RC TISSUE=Cervix carcinoma; RX PubMed=12429849; DOI=10.1091/mbc.E02-05-0271; RA Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., RA Greco A., Hochstrasser D.F., Diaz J.-J.; RT "Functional proteomic analysis of human nucleolus."; RL Mol. Biol. Cell 13:4100-4109(2002). RN [9] RP INTERACTION WITH NOL8. RX PubMed=14660641; DOI=10.1074/jbc.M305935200; RA Sekiguchi T., Todaka Y., Wang Y., Hirose E., Nakashima N., RA Nishimoto T.; RT "A novel human nucleolar protein, Nop132, binds to the G proteins, RT RRAG A/C/D."; RL J. Biol. Chem. 279:8343-8350(2004). RN [10] RP INTERACTION WITH SBDS. RX PubMed=17643419; DOI=10.1016/j.yexcr.2007.06.024; RA Hesling C., Oliveira C.C., Castilho B.A., Zanchin N.I.; RT "The Shwachman-Bodian-Diamond syndrome associated protein interacts RT with HsNip7 and its down-regulation affects gene expression at the RT transcriptional and translational levels."; RL Exp. Cell Res. 313:4180-4195(2007). RN [11] 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 [12] RP FUNCTION, INTERACTION WITH FTSJ3, AND SUBCELLULAR LOCATION. RX PubMed=22195017; DOI=10.1371/journal.pone.0029174; RA Morello L.G., Coltri P.P., Quaresma A.J., Simabuco F.M., Silva T.C., RA Singh G., Nickerson J.A., Oliveira C.C., Moore M.J., Zanchin N.I.; RT "The human nucleolar protein FTSJ3 associates with NIP7 and functions RT in pre-rRNA processing."; RL PLoS ONE 6:E29174-E29174(2011). RN [13] RP X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS), DOMAINS, SUBUNIT STRUCTURE, AND RP TISSUE SPECIFICITY. RX PubMed=15522784; DOI=10.1016/j.jsb.2004.06.010; RA Liu J.-F., Wang X.-Q., Wang Z.-X., Chen J.-R., Jiang T., An X.-M., RA Chang W.-R., Liang D.-C.; RT "Crystal structure of KD93, a novel protein expressed in human RT hematopoietic stem/progenitor cells."; RL J. Struct. Biol. 148:370-374(2004). RN [14] RP X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS). RA Kuzin A.P., Chen Y., Forouhar F., Acton T.B., Shastry R., Ma L.-C., RA Cooper B., Xiao R., Montelione G., Tong L., Hunt J.F.; RT "Crystal structure of Northeast structural genomics consortium target RT HR2118: a human homolog of Saccharomyces cerevisiae NIP7p."; RL Submitted (JUN-2004) to the PDB data bank. RN [15] RP VARIANT [LARGE SCALE ANALYSIS] GLN-171. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: Required for proper 34S pre-rRNA processing and 60S CC ribosome subunit assembly. CC -!- SUBUNIT: Monomer. Interacts with pre-ribosome complex. May bind to CC RNA (By similarity). Interacts with NOL8. May interact with SBDS. CC Interacts with FTSJ3. CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9Y221-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y221-2; Sequence=VSP_012094; CC -!- TISSUE SPECIFICITY: Expressed in hematopoietic stem/progenitor CC cells. CC -!- SIMILARITY: Belongs to the NIP7 family. CC -!- SIMILARITY: Contains 1 PUA domain. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF132971; AAD27746.1; -; mRNA. DR EMBL; AF085360; AAD40195.1; -; mRNA. DR EMBL; AF161528; AAF29143.1; -; mRNA. DR EMBL; AB062398; BAB93485.1; -; mRNA. DR EMBL; AB062479; BAB93504.1; -; mRNA. DR EMBL; AB112439; BAD05056.1; -; mRNA. DR EMBL; AK315355; BAG37751.1; -; mRNA. DR EMBL; CH471092; EAW83271.1; -; Genomic_DNA. DR EMBL; BC015941; AAH15941.1; -; mRNA. DR IPI; IPI00007175; -. DR IPI; IPI00020793; -. DR RefSeq; NP_001186363.1; NM_001199434.1. DR RefSeq; NP_057185.1; NM_016101.4. DR UniGene; Hs.585728; -. DR PDB; 1SQW; X-ray; 1.90 A; A=1-180. DR PDB; 1T5Y; X-ray; 2.50 A; A=1-180. DR PDBsum; 1SQW; -. DR PDBsum; 1T5Y; -. DR ProteinModelPortal; Q9Y221; -. DR SMR; Q9Y221; 1-176. DR IntAct; Q9Y221; 2. DR MINT; MINT-1472771; -. DR STRING; 9606.ENSP00000254940; -. DR PhosphoSite; Q9Y221; -. DR DMDM; 56404676; -. DR SWISS-2DPAGE; Q9Y221; -. DR PaxDb; Q9Y221; -. DR PeptideAtlas; Q9Y221; -. DR PRIDE; Q9Y221; -. DR DNASU; 51388; -. DR Ensembl; ENST00000254940; ENSP00000254940; ENSG00000132603. DR Ensembl; ENST00000254941; ENSP00000254941; ENSG00000132603. DR GeneID; 51388; -. DR KEGG; hsa:51388; -. DR UCSC; uc002exa.3; human. DR CTD; 51388; -. DR GeneCards; GC16P069373; -. DR HGNC; HGNC:24328; NIP7. DR neXtProt; NX_Q9Y221; -. DR PharmGKB; PA142671264; -. DR eggNOG; COG1374; -. DR HOGENOM; HOG000168475; -. DR HOVERGEN; HBG052625; -. DR InParanoid; Q9Y221; -. DR KO; K07565; -. DR OMA; CFGKFSK; -. DR OrthoDB; EOG45B1GK; -. DR PhylomeDB; Q9Y221; -. DR ChiTaRS; NIP7; human. DR EvolutionaryTrace; Q9Y221; -. DR GeneWiki; NIP7; -. DR GenomeRNAi; 51388; -. DR NextBio; 54909; -. DR PRO; PR:Q9Y221; -. DR Bgee; Q9Y221; -. DR CleanEx; HS_NIP7; -. DR Genevestigator; Q9Y221; -. DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell. DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW. DR GO; GO:0042255; P:ribosome assembly; IEA:InterPro. DR Gene3D; 2.30.130.10; -; 1. DR InterPro; IPR002478; PUA. DR InterPro; IPR015947; PUA-like_domain. DR InterPro; IPR005155; Rbsml_synth_fac_NIP7-like. DR InterPro; IPR016686; Ribosomal_synth_fac_NIP7. DR Pfam; PF03657; UPF0113; 1. DR PIRSF; PIRSF017190; Rbsml_synth_fac_NIP7; 1. DR SMART; SM00359; PUA; 1. DR SUPFAM; SSF88697; SSF88697; 1. DR PROSITE; PS50890; PUA; 1. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Complete proteome; Nucleus; KW Polymorphism; Reference proteome; Ribosome biogenesis; RNA-binding. FT CHAIN 1 180 60S ribosome subunit biogenesis protein FT NIP7 homolog. FT /FTId=PRO_0000218773. FT DOMAIN 94 170 PUA. FT REGION 1 92 N-terminal domain. FT REGION 93 180 C-terminal domain. FT VAR_SEQ 95 141 Missing (in isoform 2). FT /FTId=VSP_012094. FT VARIANT 171 171 E -> Q (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_036488. FT HELIX 6 20 FT HELIX 21 24 FT HELIX 25 28 FT STRAND 33 40 FT STRAND 43 48 FT HELIX 49 53 FT TURN 54 56 FT HELIX 60 66 FT STRAND 67 73 FT STRAND 79 81 FT HELIX 83 85 FT HELIX 86 89 FT HELIX 90 92 FT STRAND 96 99 FT HELIX 101 107 FT TURN 108 110 FT HELIX 115 117 FT STRAND 118 121 FT STRAND 130 135 FT STRAND 140 148 FT HELIX 150 155 FT STRAND 160 168 FT HELIX 169 171 SQ SEQUENCE 180 AA; 20463 MW; FC6CFB2250AA4FC9 CRC64; MRPLTEEETR VMFEKIAKYI GENLQLLVDR PDGTYCFRLH NDRVYYVSEK IMKLAANISG DKLVSLGTCF GKFTKTHKFR LHVTALDYLA PYAKYKVWIK PGAEQSFLYG NHVLKSGLGR ITENTSQYQG VVVYSMADIP LGFGVAAKST QDCRKVDPMA IVVFHQADIG EYVRHEETLT //