XRN1 - 5'-3' exoribonuclease 1 Gene

Also Known as SEP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54464

About XRN1

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:142,306,610-142,448,037 (from NCBI)

This gene has 14 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in appendix (RPKM 6.9), lymph node (RPKM 6.5) and 25 other tissues.

Summary

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 similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

XRN1 Products (3)

mRNA	Protein	Name
NM_001282857.2	NP_001269786.1	5'-3' exoribonuclease 1 isoform c
NM_001282859.2	NP_001269788.1	5'-3' exoribonuclease 1 isoform d
NM_019001.5	NP_061874.3	5'-3' exoribonuclease 1 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-3' RNA exonuclease activity	IMP IMP: Inferred from mutant phenotype	26950371	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15687258	GOA
enables telomerase RNA binding	IPI IPI: Inferred from physical interaction	26950371	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in histone mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	18172165	GOA
involved in nuclear mRNA surveillance	IMP IMP: Inferred from mutant phenotype	17545563	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	17545563	GOA
involved in rRNA catabolic process	IMP IMP: Inferred from mutant phenotype	20368444	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XRN1 Protein Structure

XRN_N

0
300
600
900
1200
1500
1706 a.a.

Protein Preferred Names	Protein Names
5'-3' exoribonuclease 1	strand-exchange protein 1 homolog

XRN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	XRN1	Q8IZH2	EDC4	Homo sapiens	Q6P2E9	Pull Down	24510189

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Murray Valley Encephalitis	Australian Encephalitis Australian X Disease Encephalitis Australia Murray River Encephalitis Australian Arboencephalitis Australian X Disorder Mve - [Murray Valley Encephalitis]
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Autosomal Recessive Nonsyndromic Deafness 32	Deafness, Autosomal Recessive 32 Autosomal Recessive Deafness 105 Autosomal Recessive Deafness 32 Dfnb32 Hearing Impairment Infertile Male Syndrome Hiims Deafness, Autosomal Recessive, Type 32
Alkhurma Hemorrhagic Fever	Alkhumra Haemorrhagic Fever
Zika Fever	Zika Virus Infection Zika Virus Disease Zika Virus Zika Virus Fever Mosquito-Borne Viral Fever, Zika
Perlman Syndrome	Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor PRLMNS Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome Renal Hamartomas Nephroblastomatosis And Fetal Gigantism Nephroblastoma Fetal Macrosomia
Kyasanur Forest Disease	Kfd Monkey Fever Kfd Virus Kyasanur Hemorrhagic Fever Monkey Disease Monkey Diseases Kfd - [ Kyasanur Forest Disease] Monkey Sickness
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-173593A	Adenosine-3',5'-bisphosphate ammonium solution (100 mM)	Inhibitor	99.16%	Unkown
HY-173593	Adenosine-3',5'-bisphosphate	Inhibitor	/	Unkown
HY-RS15902	XRN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21461	Xrn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27979	Xrn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	XRN1	MGD	MGI:891964
Canis familiaris	XRN1	VGNC	VGNC:48471
Bos taurus	XRN1	VGNC	VGNC:37008
Rattus norvegicus	XRN1	RGD	RGD:1309713
Felis catus	XRN1	VGNC	VGNC:67122
Macaca mulatta	XRN1	VGNC	VGNC:79862
Others	XRN1	NCBI