1. Gene
  2. XRN1 - 5'-3' exoribonuclease 1 Gene

XRN1 - 5'-3' exoribonuclease 1 Gene

Homo sapiens

Also known as SEP1

Gene ID: 54464 | Gene type: protein coding

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 Reference 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 Reference 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

XRN_N: XRN 5'-3' exonuclease N-terminus (1 - 228)

  • 0
  • 300
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  • 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 Reference
Intra
XRN1 Q8IZH2 EDC4 Homo sapiens Q6P2E9 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

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