Overview

Location [1]
3q21.3
Synonyms [1]
RBPH1, OST1

Ribophorin I (RPN1) is a gene that encodes a protein that functions in linking high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. The protein may also mediate binding of ubiquitin-like domains to the 26S proteasome. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

Significance of RPN1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Primary Myelofibrosis +

Hodgkin Lymphoma +

Multiple Myeloma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Chronic Lymphocytic Leukemia +

Burkitt Lymphoma +

Mantle Cell Lymphoma +

Myeloproliferative Neoplasm +

Acute Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Large Cell Lymphoma +

Refractory Anemia With Excess Blasts +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Acute Myeloid Leukemia +

Secondary Myelofibrosis +

Therapy-Related Acute Myeloid Leukemia +

Juvenile Myelomonocytic Leukemia +

Mixed Phenotype Acute Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoma +

Prolymphocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Small Lymphocytic Lymphoma +

Acute Undifferentiated Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Plasma Cell Leukemia +

Secondary Myelodysplastic Syndrome +

B-Cell Acute Lymphoblastic Leukemia +

Refractory Anemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Bilineal Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Burkitt Leukemia +

Chronic Myelomonocytic Leukemia-1 +

Malignant Solid Tumor +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-1 +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aggressive Non-Hodgkin Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Prolymphocytic Leukemia +

Chronic Myelomonocytic Leukemia-0 +

Chronic Myelomonocytic Leukemia-2 +

Desmoplastic Small Round Cell Tumor +

Essential Thrombocythemia +

Ewing Sarcoma +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Leukemia +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Neoplasm +

NK-Cell Lymphoma, Unclassifiable +

Neuroblastoma +

Overt Primary Myelofibrosis +

Plasma Cell Neoplasm +

Polycythemia Vera +

Refractory Anemia With Ring Sideroblasts +

Rhabdomyosarcoma +

Richter Syndrome +

Systemic Mastocytosis +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.