• Gene id: 54464

Gene Summary

• Gene Symbol: XRN1   Gene   UCSC   Ensembl
• Aliases: SEP1
• Gene name: 5'-3' exoribonuclease 1
• Alternate names: 5'-3' exoribonuclease 1, strand-exchange protein 1 homolog,
• Gene location: 3q23 (142448061: 142306609)     Exons: 43     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a simi
• OMIM: 607994

Protein Summary

• Protein general information: Q8IZH2  
  • Name: 5' 3' exoribonuclease 1 (EC 3.1.13. ) (Strand exchange protein 1 homolog)
  • Length: 1706  
  • Mass: 194107
  • Tissue specificity: Expressed in heart, brain, pancreas, spleen, testis, osteogenic sarcoma (OGS) biopsy and primary cell lines. {ECO
• Sequence:

  MGVPKFYRWISERYPCLSEVVKEHQIPEFDNLYLDMNGIIHQCSHPNDDDVHFRISDDKIFTDIFHYLEVLFRII
  KPRKVFFMAVDGVAPRAKMNQQRGRRFRSAKEAEDKIKKAIEKGETLPTEARFDSNCITPGTEFMARLHEHLKYF
  VNMKISTDKSWQGVTIYFSGHETPGEGEHKIMEFIRSEKAKPDHDPNTRHCLYGLDADLIMLGLTSHEAHFSLLR
  EEVRFGGKKTQRVCAPEETTFHLLHLSLMREYIDYEFSVLKEKITFKYDIERIIDDWILMGFLVGNDFIPHLPHL
  HINHDALPLLYGTYVTILPELGGYINESGHLNLPRFEKYLVKLSDFDREHFSEVFVDLKWFESKVGNKYLNEAAG
  VAAEEARNYKEKKKLKGQENSLCWTALDKNEGEMITSKDNLEDETEDDDLFETEFRQYKRTYYMTKMGVDVVSDD
  FLADQAACYVQAIQWILHYYYHGVQSWSWYYPYHYAPFLSDIHNISTLKIHFELGKPFKPFEQLLAVLPAASKNL
  LPACYQHLMTNEDSPIIEYYPPDFKTDLNGKQQEWEAVVLIPFIDEKRLLEAMETCNHSLKKEERKRNQHSECLM
  CWYDRDTEFIYPSPWPEKFPAIERCCTRYKIISLDAWRVDINKNKITRIDQKALYFCGFPTLKHIRHKFFLKKSG
  VQVFQQSSRGENMMLEILVDAESDELTVENVASSVLGKSVFVNWPHLEEARVVAVSDGETKFYLEEPPGTQKLYS
  GRTAPPSKVVHLGDKEQSNWAKEVQGISEHYLRRKGIIINETSAVVYAQLLTGRKYQINQNGEVRLEKQWSKQVV
  PFVYQTIVKDIRAFDSRFSNIKTLDDLFPLRSMVFMLGTPYYGCTGEVQDSGDVITEGRIRVIFSIPCEPNLDAL
  IQNQHKYSIKYNPGYVLASRLGVSGYLVSRFTGSIFIGRGSRRNPHGDHKANVGLNLKFNKKNEEVPGYTKKVGS
  EWMYSSAAEQLLAEYLERAPELFSYIAKNSQEDVFYEDDIWPGENENGAEKVQEIITWLKGHPVSTLSRSSCDLQ
  ILDAAIVEKIEEEVEKCKQRKNNKKVRVTVKPHLLYRPLEQQHGVIPDRDAEFCLFDRVVNVRENFSVPVGLRGT
  IIGIKGANREADVLFEVLFDEEFPGGLTIRCSPGRGYRLPTSALVNLSHGSRSETGNQKLTAIVKPQPAVHQHSS
  SSSVSSGHLGALNHSPQSLFVPTQVPTKDDDEFCNIWQSLQGSGKMQYFQPTIQEKGAVLPQEISQVNQHHKSGF
  NDNSVKYQQRKHDPHRKFKEECKSPKAECWSQKMSNKQPNSGIENFLASLNISKENEVQSSHHGEPPSEEHLSPQ
  SFAMGTRMLKEILKIDGSNTVDHKNEIKQIANEIPVSSNRRDEYGLPSQPKQNKKLASYMNKPHSANEYHNVQSM
  DNMCWPAPSQIPPVSTPVTELSRICSLVGMPQPDFSFLRMPQTMTVCQVKLSNGLLVHGPQCHSENEAKEKAALF
  ALQQLGSLGMNFPLPSQVFANYPSAVPPGTIPPAFPPPTGWDHYGSNYALGAANIMPSSSHLFGSMPWGPSVPVP
  GKPFHHTLYSGTMPMAGGIPGGVHNQFIPLQVTKKRVANKKNFENKEAQSSQATPVQTSQPDSSNIVKVSPRESS
  SASLKSSPIAQPASSFQVETASQGHSISHHKSTPISSSRRKSRKLAVNFGVSKPSE

• Structural information:
  • Interpro: IPR027073  IPR016494  IPR004859  IPR041385  IPR040992   IPR041106  IPR041412  
  • DIP: 31174
  • STRING: ENSP00000264951
• Other Databases: GeneCards:  XRN1  Malacards:  XRN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004534	5'-3' exoribonuclease activity	IBA	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016075	rRNA catabolic process	IBA	biological process
GO:0071028	nuclear mRNA surveillance	IMP	biological process
GO:0016075	rRNA catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0008409	5'-3' exonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:1905795	cellular response to puromycin	IEA	biological process
GO:0071409	cellular response to cycloheximide	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0017148	negative regulation of translation	IEA	biological process
GO:0000932	P-body	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033574	response to testosterone	IEA	biological process
GO:0004534	5'-3' exoribonuclease activity	ISS	molecular function
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	ISS	biological process
GO:0070034	telomerase RNA binding	IC	molecular function
GO:0002151	G-quadruplex RNA binding	ISS	molecular function
GO:0004534	5'-3' exoribonuclease activity	IMP	molecular function
GO:0051880	G-quadruplex DNA binding	ISS	molecular function
GO:0032211	negative regulation of telomere maintenance via telomerase	IC	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0071044	histone mRNA catabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Alzheimer's disease	PMID:22984654
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq