Q8IZH2 (XRN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: 5'-3' exoribonuclease 1 EC=3.1.11.- Alternative name(s): Strand-exchange protein 1 homolog | ||||
| Gene names |
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| 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 | 1706 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Major 5'-3' exoribonuclease involved in mRNA decay. Required for the 5'-3'-processing of the G4 tetraplex-containing DNA and RNA substrates. The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex. Binds to RNA and DNA By similarity. Plays a role in replication-dependent histone mRNA degradation. May act as a tumor suppressor protein in osteogenic sarcoma (OGS). Ref.8 Ref.10 |
| Subunit structure | Associates with alpha and beta tubulins By similarity. Found in a mRNP complex with UPF1, UPF2, UPF3B and XRN1. |
| Subcellular location | Cytoplasm. Note: Discrete foci at the inner surface of the cell membrane. Ref.1 Ref.5 Ref.7 |
| Tissue specificity | Expressed in heart, brain, pancreas, spleen, testis, osteogenic sarcoma (OGS) biopsy and primary cell lines. Ref.8 |
| Induction | By GDNF/glial cell line-derived neurotrophic factor. Ref.1 |
| Miscellaneous | Down-regulated in OGS biopsy. |
| Sequence similarities | Belongs to the 5'-3' exonuclease family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IZH2-1) 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: Q8IZH2-2) The sequence of this isoform differs from the canonical sequence as follows: 1354-1354: M → MK 1540-1552: Missing. | ||||||
| Isoform 3 (identifier: Q8IZH2-3) The sequence of this isoform differs from the canonical sequence as follows: 449-459: DDFLADQAACY → EYVFANAFILK 460-1706: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1706 | 1706 | 5'-3' exoribonuclease 1 | PRO_0000071392 | |||||
Amino acid modifications | |||||||||
| Modified residue | 1173 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1176 | 1 | Phosphoserine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 449 – 459 | 11 | DDFLADQAACY → EYVFANAFILK in isoform 3. | VSP_016692 | |||||
| Alternative sequence | 460 – 1706 | 1247 | Missing in isoform 3. | VSP_016693 | |||||
| Alternative sequence | 1354 | 1 | M → MK in isoform 2. | VSP_016694 | |||||
| Alternative sequence | 1540 – 1552 | 13 | Missing in isoform 2. | VSP_016695 | |||||
| Natural variant | 674 | 1 | S → G. Corresponds to variant rs35214510 [ dbSNP | Ensembl ]. | VAR_053000 | |||||
| Natural variant | 1259 | 1 | V → A. Corresponds to variant rs35902661 [ dbSNP | Ensembl ]. | VAR_053001 | |||||
Experimental info | |||||||||
| Sequence conflict | 48 | 1 | D → G in CAE45950. Ref.2 | ||||||
| Sequence conflict | 55 | 1 | I → T in BAC04718. Ref.4 | ||||||
| Sequence conflict | 113 | 1 | K → E in CAH18332. Ref.2 | ||||||
| Sequence conflict | 142 | 1 | R → K in AAH48104. Ref.3 | ||||||
| Sequence conflict | 148 | 1 | K → E in CAH18332. Ref.2 | ||||||
| Sequence conflict | 572 | 1 | Missing in CAB63749. Ref.2 | ||||||
| Sequence conflict | 722 | 1 | L → I in CAE45950. Ref.2 | ||||||
| Sequence conflict | 834 | 1 | K → R in CAH18332. Ref.2 | ||||||
| Sequence conflict | 1250 | 1 | Q → R in CAH18332. Ref.2 | ||||||
| Sequence conflict | 1463 | 1 | L → F in CAE45950. Ref.2 | ||||||
| Sequence conflict | 1686 | 1 | S → P in CAH18332. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of human SEP1 as a glial cell line-derived neurotrophic factor-inducible protein and its expression in the nervous system." Shimoyama Y., Morikawa Y., Ichihara M., Kodama Y., Fukuda N., Hayashi H., Morinaga T., Iwashita T., Murakumo Y., Takahashi M. Neuroscience 121:899-906(2003) [PubMed: 14580940] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION BY GDNF, SUBCELLULAR LOCATION. Tissue: Neuroblastoma. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Fetal kidney, Small intestine and Testis. |
| [3] | "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] (ISOFORM 3). Tissue: Brain and Testis. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-473 (ISOFORMS 1/2). Tissue: Mesangial cell. |
| [5] | "Cloning and characterization of human Sep1 (hSEP1) gene and cytoplasmic localization of its product." Sato Y., Shimamoto A., Shobuike T., Sugimoto M., Ikeda H., Kuroda S., Furuichi Y. DNA Res. 5:241-246(1998) [PubMed: 9802570] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 2), SUBCELLULAR LOCATION. |
| [6] | "Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities." Lejeune F., Li X., Maquat L.E. Mol. Cell 12:675-687(2003) [PubMed: 14527413] [Abstract] Cited for: IDENTIFICATION IN A MRNP COMPLEX WITH UPF1; UPF2 AND UPF3B. |
| [7] | "The human LSm1-7 proteins colocalize with the mRNA-degrading enzymes Dcp1/2 and Xrnl in distinct cytoplasmic foci." Ingelfinger D., Arndt-Jovin D.J., Luehrmann R., Achsel T. RNA 8:1489-1501(2002) [PubMed: 12515382] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [8] | "The human homolog of yeast SEP1 is a novel candidate tumor suppressor gene in osteogenic sarcoma." Zhang K., Dion N., Fuchs B., Damron T., Gitelis S., Irwin R., O'Connor M., Schwartz H., Scully S.P., Rock M.G., Bolander M.E., Sarkar G. Gene 298:121-127(2002) [PubMed: 12426100] [Abstract] Cited for: POTENTIAL TUMOR SUPPRESSION ROLE IN OSTEOGENIC SARCOMA, TISSUE SPECIFICITY. |
| [9] | "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-1173 AND SER-1176, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'." Mullen T.E., Marzluff W.F. Genes Dev. 22:50-65(2008) [PubMed: 18172165] [Abstract] Cited for: FUNCTION IN HISTONE MRNA DEGRADATION ACTIVITY. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY137776 mRNA. Translation: AAN11306.1. AL133623 mRNA. Translation: CAB63749.1. BX640905 mRNA. Translation: CAE45950.1. CR627396 mRNA. Translation: CAH10490.1. CR749518 mRNA. Translation: CAH18332.1. BC039314 mRNA. Translation: AAH39314.1. BC048104 mRNA. Translation: AAH48104.1. AK096177 mRNA. Translation: BAC04718.1. |
| IPI | IPI00328115. IPI00657645. IPI00657805. |
| PIR | T43461. |
| RefSeq | NP_001036069.1. NM_001042604.1. NP_061874.3. NM_019001.3. |
| UniGene | Hs.435103. |
3D structure databases | |
| ProteinModelPortal | Q8IZH2. |
| SMR | Q8IZH2. Positions 1-607. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IZH2. 25 interactions. |
| STRING | Q8IZH2. |
PTM databases | |
| PhosphoSite | Q8IZH2. |
Polymorphism databases | |
| DMDM | 74714582. |
Proteomic databases | |
| PRIDE | Q8IZH2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000264951; ENSP00000264951; ENSG00000114127. |
| GeneID | 54464. |
| KEGG | hsa:54464. |
| NMPDR | fig|9606.3.peg.23297. |
| UCSC | uc003eus.1. human. uc003eut.1. human. uc003euw.2. human. |
Organism-specific databases | |
| CTD | 54464. |
| GeneCards | GC03M142025. |
| H-InvDB | HIX0003739. |
| HGNC | HGNC:30654. XRN1. |
| HPA | HPA035005. HPA035006. |
| MIM | 607994. gene. |
| neXtProt | NX_Q8IZH2. |
| PharmGKB | PA134878471. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06175. |
| GeneTree | ENSGT00600000084422. |
| HOVERGEN | HBG094164. |
| InParanoid | Q8IZH2. |
| OMA | WQSLQGS. |
| OrthoDB | EOG49S65H. |
| PhylomeDB | Q8IZH2. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | Q8IZH2. |
| Bgee | Q8IZH2. |
| CleanEx | HS_XRN1. |
| Genevestigator | Q8IZH2. |
| GermOnline | ENSG00000114127. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016494. 5_3_exoribonuclease_1. IPR004859. Put_53exo. [Graphical view] |
| KO | K12618. |
| Pfam | PF03159. XRN_N. 1 hit. [Graphical view] |
| PIRSF | PIRSF006743. Exonuclease_Xnr1. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 56731. |
| SOURCE | Search... |
Entry information
| Entry name | XRN1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZH2 Secondary accession number(s): Q4G0S3 Q9UF39 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: 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 |
| SIMILARITY comments Index of protein domains and families |

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