Reviewed,
UniProtKB/Swiss-Prot P35658 (NU214_HUMAN)
Last modified
June 16, 2009.
Version 93.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: Nuclear pore complex protein Nup214 Alternative name(s): Nucleoporin Nup214 214 kDa nucleoporin Protein CAN | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2090 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. |
| Subunit structure | Homodimer. Interacts with DDX19, NUP88, XPO1 and XPO5. Ref.7 Ref.8 |
| Subcellular location | Nucleus › nuclear pore complex. Note: Cytoplasmic filaments. |
| Tissue specificity | Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development. |
| Domain | Contains FG repeats. |
| Post-translational modification | Probably glycosylated as it reacts with wheat germ agglutinin (WGA). |
| Involvement in disease | A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a DEK-CAN fusion gene. A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with SET. Defects in NUP214 may be a cause of breast cancer. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Translocation Transport mRNA transport |
| Cellular component | Nuclear pore complex Nucleus |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Repeat |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | intracellular protein transmembrane transport Inferred from electronic annotation. Source: UniProtKB-KW mRNA transportInferred from electronic annotation. Source: UniProtKB-KW protein export from nucleusInferred from mutant phenotype. Source: MGI |
| Cellular component | cytosol Inferred from Experiment. Source: Reactome nuclear pore Ref.6Traceable author statement. Source: ProtInc |
| Molecular function | protein binding Inferred from physical interaction. Source: UniProtKB transporter activity Ref.6Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P35658-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P35658-2) The sequence of this isoform differs from the canonical sequence as follows: 590-601: KFTAAATSTPVS → N | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: P35658-3) The sequence of this isoform differs from the canonical sequence as follows: 648-648: S → SA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: P35658-4) The sequence of this isoform differs from the canonical sequence as follows: 590-601: KFTAAATSTPVS → N 648-648: S → SA | ||||||
| Isoform 5 (identifier: P35658-5) The sequence of this isoform differs from the canonical sequence as follows: 590-601: KFTAAATSTPVS → N 1139-1148: Missing. 2026-2090: FGSSSNTTSF...SVQGFGGWRS → SLAMSLSPTL...PTDFWFWDPE |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2090 | 2090 | Nuclear pore complex protein Nup214 | PRO_0000204861 | |||||
Regions | |||||||||
| Domain | 740 – 768 | 29 | Leucine-zipper 1 | ||||||
| Domain | 861 – 882 | 22 | Leucine-zipper 2 | ||||||
| Region | 481 – 2076 | 1596 | 11 X 5 AA approximate repeats | ||||||
| Region | 1409 – 2084 | 676 | 18 X 4 AA approximate repeats | ||||||
| Region | 1427 – 2085 | 659 | 11 X 3 AA approximate repeats | ||||||
| Compositional bias | 1213 – 2090 | 878 | Pro/Ser/Thr-rich | ||||||
Sites | |||||||||
| Site | 812 – 813 | 2 | Breakpoint | ||||||
Amino acid modifications | |||||||||
| Modified residue | 40 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 416 | 1 | Phosphothreonine Ref.14 | ||||||
| Modified residue | 430 | 1 | Phosphoserine Ref.9 Ref.15 | ||||||
| Modified residue | 433 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 434 | 1 | Phosphothreonine Ref.15 | ||||||
| Modified residue | 437 | 1 | Phosphothreonine Ref.9 Ref.15 | ||||||
| Modified residue | 439 | 1 | Phosphothreonine Ref.15 | ||||||
| Modified residue | 646 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 651 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 657 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 666 | 1 | Phosphoserine Ref.14 Ref.15 Ref.13 | ||||||
| Modified residue | 670 | 1 | Phosphothreonine Ref.14 Ref.15 | ||||||
| Modified residue | 678 | 1 | Phosphoserine Ref.14 Ref.15 | ||||||
| Modified residue | 940 | 1 | Phosphoserine Ref.14 Ref.15 Ref.10 | ||||||
| Modified residue | 970 | 1 | Phosphoserine Ref.14 Ref.15 | ||||||
| Modified residue | 974 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 985 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 987 | 1 | Phosphothreonine Ref.15 | ||||||
| Modified residue | 989 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 1081 | 1 | Phosphoserine Ref.14 Ref.10 Ref.11 | ||||||
| Modified residue | 1156 | 1 | Phosphothreonine Ref.14 | ||||||
| Modified residue | 1181 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1203 | 1 | Phosphothreonine Ref.14 | ||||||
| Modified residue | 1312 | 1 | Phosphothreonine Ref.14 | ||||||
| Modified residue | 1333 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1356 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1963 | 1 | Phosphoserine Ref.15 | ||||||
Natural variations | |||||||||
| Alternative sequence | 590 – 601 | 12 | KFTAA…STPVS → N in isoform 2, isoform 4 and isoform 5. | VSP_034896 | |||||
| Alternative sequence | 648 | 1 | S → SA in isoform 3 and isoform 4. | VSP_034897 | |||||
| Alternative sequence | 1139 – 1148 | 10 | Missing in isoform 5. | VSP_034898 | |||||
| Alternative sequence | 2026 – 2090 | 65 | FGSSS…GGWRS → SLAMSLSPTLKGRLLLMRPK AGGGREQAAPGRKSNESRSL GHLCMERALTSPLKVWEQQQ HHILRHARESECPHFRITVP TDFWFWDPE in isoform 5. | VSP_034899 | |||||
| Natural variant | 424 | 1 | G → A in a breast cancer sample; somatic mutation. Ref.17 | VAR_035856 | |||||
| Natural variant | 574 | 1 | P → S: dbSNP rs103612. Ref.1 Ref.5 | VAR_045691 | |||||
| Natural variant | 1378 | 1 | P → L in a breast cancer sample; somatic mutation. Ref.17 | VAR_035857 | |||||
| Natural variant | 1392 | 1 | A → V in a breast cancer sample; somatic mutation. Ref.17 | VAR_035858 | |||||
Experimental info | |||||||||
| Sequence conflict | 149 | 1 | G → A in CAA45535. Ref.1 | ||||||
| Sequence conflict | 175 | 1 | A → D in CAA45535. Ref.1 | ||||||
| Sequence conflict | 1091 – 1092 | 2 | AA → QL in CAA45535. Ref.1 | ||||||
| Sequence conflict | 1872 | 1 | S → N in AAH45620. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA." Von Lindern M., Fornerod M., Van Baal S., Jaegle M., De Wit T., Buijs A., Grosveld G. Mol. Cell. Biol. 12:1687-1697(1992) [PubMed: 1549122] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-574. Tissue: Testis. |
| [2] | "Homo sapiens mRNA for KIAA0023 splice variant 1 protein." Nagase T., Kikuno R., Ohara O. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1." Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S. DNA Res. 1:27-35(1994) [PubMed: 7584026] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT SER-574. Tissue: Placenta and Testis. |
| [6] | "The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm." Kraemer D., Wozniak R.W., Blobel G., Radu A. Proc. Natl. Acad. Sci. U.S.A. 91:1519-1523(1994) [PubMed: 8108440] [Abstract] Cited for: CHARACTERIZATION. |
| [7] | "The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and the novel nuclear pore component Nup88." Fornerod M., van Deursen J.M., van Baal S., Reynolds A., Davis D., Murti K.G., Fransen J., Grosveld G. EMBO J. 16:807-816(1997) [PubMed: 9049309] [Abstract] Cited for: INTERACTION WITH XPO1. |
| [8] | "Exportin-5, a novel karyopherin, mediates nuclear export of double-stranded RNA binding proteins." Brownawell A.M., Macara I.G. J. Cell Biol. 156:53-64(2002) [PubMed: 11777942] [Abstract] Cited for: INTERACTION WITH XPO5. |
| [9] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-430 AND THR-437, MASS SPECTROMETRY. Tissue: Epithelium. |
| [10] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-940 AND SER-1081, MASS SPECTROMETRY. Tissue: Epithelium. |
| [11] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1081, MASS SPECTROMETRY. Tissue: Epithelium. |
| [12] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-40, MASS SPECTROMETRY. |
| [13] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-666, MASS SPECTROMETRY. |
| [14] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-416; SER-646; SER-651; SER-657; SER-666; THR-670; SER-678; SER-940; SER-970; SER-1081; THR-1156; SER-1181; THR-1203; THR-1312; SER-1333 AND SER-1356, MASS SPECTROMETRY. |
| [15] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-430; SER-433; THR-434; THR-437; THR-439; SER-666; THR-670; SER-678; SER-940; SER-970; SER-974; SER-985; THR-987; SER-989 AND SER-1963, MASS SPECTROMETRY. |
| [16] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [17] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-424; LEU-1378 AND VAL-1392. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X64228 mRNA. Translation: CAA45535.1. AB159230 mRNA. Translation: BAD07398.1. Different initiation. D14689 mRNA. Translation: BAA03515.1. AL157938 Genomic DNA. Translation: CAI41111.1. BC045620 mRNA. Translation: AAH45620.2. BC105998 mRNA. Translation: AAI05999.1. | |||||||||||||||||||
| IPI | IPI00183294. IPI00646361. IPI00900318. IPI00900325. IPI00900331. | ||||||||||||||||||
| PIR | S26058. | ||||||||||||||||||
| RefSeq | NP_005076.3. | ||||||||||||||||||
| UniGene | Hs.654530 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| |||||||||||||||||||
| SMR | P35658. Positions 1-434. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P35658. 2 interactions. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P35658. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P35658. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000126883. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 8021. | ||||||||||||||||||
| KEGG | hsa:8021. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC09P132990. | ||||||||||||||||||
| H-InvDB | HIX0022356. | ||||||||||||||||||
| HGNC | HGNC:8064. NUP214. | ||||||||||||||||||
| HPA | HPA018404. | ||||||||||||||||||
| MIM | 114350. gene. | ||||||||||||||||||
| Orphanet | 52688. Myelodysplastic syndromes. 86839. Refractory anemia with excess blasts. | ||||||||||||||||||
| PharmGKB | PA31851. | ||||||||||||||||||
| HUGE | Search... | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOVERGEN | P35658. | ||||||||||||||||||
| OMA | P35658. HLEQKKK. | ||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||
| Pathway_Interaction_DB | bmppathway. BMP receptor signaling. smad2_3pathway. Regulation of cytoplasmic and nuclear SMAD2/3 signaling. nfat_3pathway. Role of Calcineurin-dependent NFAT signaling in lymphocytes. | ||||||||||||||||||
| Reactome | REACT_6185. HIV Infection. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P35658. | ||||||||||||||||||
| Bgee | P35658. | ||||||||||||||||||
| CleanEx | HS_NUP214. | ||||||||||||||||||
| GermOnline | ENSG00000126883. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR015943. WD40/YVTN_repeat-like. IPR001680. WD40_repeat. [Graphical view] | ||||||||||||||||||
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit. | ||||||||||||||||||
| SMART | SM00320. WD40. 2 hits. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 30584. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | NU214_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P35658 Secondary accession number(s): A6NFQ0 Q86XD3 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |

Clusters with


