Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RPRML (Reprimo-like)

Written2021-02María Alejandra Alarcón, Alejandro H. Corvalán
Advanced Center for Chronic Diseases (MAA); Laboratorio de Oncologèa y Hematologèa, Facultad de Medicina, Pontificia Universidad Católica de Chile; mralarco@uc.cl , acorvalan@uc.cl (MAA, AHC)

Abstract Review on RPRML, with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords cell cycle; Wnt signaling; Apoptosis; Cell proliferation; Gastric Cancer

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)RPRM2
MGC43894
HGNC (Hugo) RPRML
HGNC Alias symbMGC43894
HGNC Previous namereprimo-like
LocusID (NCBI) 388394
Atlas_Id 57675
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 46978156 and ends at 46979253 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RPRML.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

 
  Figure 1. RPRML location (hg38)
Description RPRML is a single-exon and intronless gene located on the reverse strand of chromosome 17 between nucleotides 46,978,156 and 46,979,253 (GRCh38.p13 assembly). The gene spans 1.098 kb of genomic DNA within a dense CpG island.
Transcription The mRNA is 1.098 kb in length. Transcription is regulated by DNA methylation (Alarcon et al., 2020). According to the Genotype-Tissue Expression (GTEx) database (www.gtexportal.org), RPRML is expressed at very low levels in most tissues and mainly expressed in brain compartments.

Protein

Note RPRML is yet poorly known.
Description RPRML open reading frame encodes a 120-amino acid protein with an estimated molecular mass of 12.3 kDa. Predicted post-translational modifications include two N-glycosylation sites at amino acids 2 and 27, a sumoylation site at position 93, and two serine- phosphorylation sites at positions 9 and 108 (Amigo et al., 2018).
Expression RPRML protein expression has been reported in glandular and foveolar epithelial cells of the gastric mucosa (Alarcón et al., 2020).
Localisation Bioinformatic predictions indicates it contains a single-pass transmembrane domain located between amino acids 67 and 87 (Amigo et al., 2018). However, immunohistochemical evidence and ectopic overexpression experiments indicate it is predominantly localized in the cytoplasm (Alarcón et al. 2020).
Function RPRML is expressed during normal embryonic development of zebrafish and is required for the formation of hematopoietic progenitors during hematovascular development (Figueroa et al,. 2017 and Stanic et al., 2019). In humans, it has tumor suppressor properties and when ectopically overexpressed in the AGS gastric cancer cell line it inhibits cell cycle progression at G2/M phase, reduces cell proliferation, clonogenic capacity and anchorage-independent growth (Alarcón et al. 2020). In gastric tumors, the loss of RPRML protein expression is associated with reduced apoptotic marker (Alarcón et al. 2020). RPRML expression in colorectal cancer cells is dependent on FRMD5 and CTNNB1 (β-catenin) expression, both components of the canonical Wnt signaling pathway (Zhu et al., 2017). The biological and pathological function of RPRML remains to be fully elucidated.
Homology RPRML is a member of the Reprimo (RPRM) gene family. In humans, it shares 52.5% amino acid sequence identity with RPRM, mainly in the C-terminal domain (Wichmann et al., 2016).

Mutations

Note No pathogenic mutations have been reported. However, its locus at 17q21 is often affected by chromosome rearrangements and segmental amplifications in multiple tumors.

Implicated in

  
Entity Gastric Cancer
Disease RPRML is silenced in gastric tumors. Circulating methylated RPRML DNA is detected in plasma samples from patients with gastric cancer and has been proposed as a potential biomarker for the diagnosis of disease (Alarcon et al., 2020).
Prognosis RPRML loss of expression in gastric tumors is associated with worse prognosis in advanced stages of disease (Alarcon et al., 2020).
  

Bibliography

The Reprimo-Like Gene Is an Epigenetic-Mediated Tumor Suppressor and a Candidate Biomarker for the Non-Invasive Detection of Gastric Cancer.
Alarcón MA, Olivares W, Córdova-Delgado M, Muñoz-Medel M, de Mayo T, Carrasco-Aviño G, Wichmann I, Landeros N, Amigo J, Norero E, Villarroel-Espèndola F, Riquelme A, Garrido M, Owen GI, Corvalán AH.
Int. J. Mol. Sci. 2020; 21(24):9472
PMID 33322837
 
The Reprimo Gene Family: A Novel Gene Lineage in Gastric Cancer with Tumor Suppressive Properties.
Amigo JD, Opazo JC, Jorquera R, Wichmann IA, Garcia-Bloj BA, Alarcon MA, Owen GI, Corvalán AH.
Int. J. Mol. Sci. 2018, 19(7): 1862.
PMID 29941787
 
Reprimo tissue-specific expression pattern is conserved between zebrafish and human.
Figueroa RJ, Carrasco-Avino G, Wichmann IA, Lange M, Owen GI, Siekmann AF, et al.
PLoS ONE 2017; 12(5): e0178274.
PMID 28562620
 
The Reprimo gene family member, reprimo-like (rprml), is required for blood development in embryonic zebrafish.
Stanic K, Reig G., Figueroa RJ, Retamal PA, Wichmann I A, Opazo JC, Owen GI, Corvalán AH, Concha ML, Amigo JD.
Scientific Reports 2019; 9(1): 7131.
PMID 31073223
 
Evolutionary history of the reprimo tumor suppressor gene family in vertebrates with a description of a new reprimo gene lineage.
Wichmann I, Zavala K, Hoffmann FG, Vandewege MW, Corvalán AH, Amigo JD, Owen GI, Opazo JC
Gene 2016; 591 (1): 245-254.
PMID 27432065
 
Identification of FERM domain-containing protein 5 as a novel target of ?-catenin/TCF7L2 complex
Zhu C, Yamaguchi K, Ohsugi T, Terakado Y, Noguchi R, Ikenoue T, Furukawa Y
Cancer Sci. 2017;108(4):612-619.
PMID 28117551
 

Citation

This paper should be referenced as such :
Alarcón MA, Corvalán AH
RPRML (Reprimo-like);
Atlas Genet Cytogenet Oncol Haematol. in press


External links

 

Nomenclature
HGNC (Hugo)RPRML   32422
Cards
AtlasRPRMLID57675ch17q21
Entrez_Gene (NCBI)RPRML    reprimo like
Aliases
GeneCards (Weizmann)RPRML
Ensembl hg19 (Hinxton)ENSG00000179673 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179673 [Gene_View]  ENSG00000179673 [Sequence]  chr17:46978156-46979253 [Contig_View]  RPRML [Vega]
ICGC DataPortalENSG00000179673
TCGA cBioPortalRPRML
AceView (NCBI)RPRML
Genatlas (Paris)RPRML
SOURCE (Princeton)RPRML
Genetics Home Reference (NIH)RPRML
Genomic and cartography
GoldenPath hg38 (UCSC)RPRML  -     chr17:46978156-46979253 -  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPRML  -     17q21.32   [Description]    (hg19-Feb_2009)
GoldenPathRPRML - 17q21.32 [CytoView hg19]  RPRML - 17q21.32 [CytoView hg38]
ImmunoBaseENSG00000179673
Genome Data Viewer NCBIRPRML [Mapview hg19]  
Gene and transcription
Genbank (Entrez)BC033942 BC108690
RefSeq transcript (Entrez)NM_203400
Consensus coding sequences : CCDS (NCBI)RPRML
Gene ExpressionRPRML [ NCBI-GEO ]   RPRML [ EBI - ARRAY_EXPRESS ]   RPRML [ SEEK ]   RPRML [ MEM ]
Gene Expression Viewer (FireBrowse)RPRML [ Firebrowse - Broad ]
GenevisibleExpression of RPRML in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388394
GTEX Portal (Tissue expression)RPRML
Human Protein AtlasENSG00000179673-RPRML [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N4K4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N4K4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N4K4
PhosPhoSitePlusQ8N4K4
Domains : Interpro (EBI)Reprimo-like    Reprimo_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RPRML
SuperfamilyQ8N4K4
AlphaFold pdb e-kbQ8N4K4   
Human Protein Atlas [tissue]ENSG00000179673-RPRML [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8N4K4
IntAct (EBI)Q8N4K4
BioGRIDRPRML
STRING (EMBL)RPRML
ZODIACRPRML
Ontologies - Pathways
QuickGOQ8N4K4
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkRPRML
Atlas of Cancer Signalling NetworkRPRML
Wikipedia pathwaysRPRML
Orthology - Evolution
OrthoDB388394
GeneTree (enSembl)ENSG00000179673
Phylogenetic Trees/Animal Genes : TreeFamRPRML
Homologs : HomoloGeneRPRML
Homology/Alignments : Family Browser (UCSC)RPRML
Gene fusions - Rearrangements
Fusion : QuiverRPRML
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPRML [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPRML
dbVarRPRML
ClinVarRPRML
MonarchRPRML
1000_GenomesRPRML 
Exome Variant ServerRPRML
GNOMAD BrowserENSG00000179673
Varsome BrowserRPRML
ACMGRPRML variants
VarityQ8N4K4
Genomic Variants (DGV)RPRML [DGVbeta]
DECIPHERRPRML [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPRML 
Mutations
ICGC Data PortalRPRML 
TCGA Data PortalRPRML 
Broad Tumor PortalRPRML
OASIS PortalRPRML [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPRML  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRPRML
Mutations and Diseases : HGMDRPRML
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRPRML
DgiDB (Drug Gene Interaction Database)RPRML
DoCM (Curated mutations)RPRML
CIViC (Clinical Interpretations of Variants in Cancer)RPRML
NCG (London)RPRML
Cancer3DRPRML
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETRPRML
MedgenRPRML
Genetic Testing Registry RPRML
NextProtQ8N4K4 [Medical]
GENETestsRPRML
Target ValidationRPRML
Huge Navigator RPRML [HugePedia]
ClinGenRPRML
Clinical trials, drugs, therapy
MyCancerGenomeRPRML
Protein Interactions : CTDRPRML
Pharm GKB GenePA142670990
PharosQ8N4K4
Clinical trialRPRML
Miscellaneous
canSAR (ICR)RPRML
HarmonizomeRPRML
DataMed IndexRPRML
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRPRML
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:27:14 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.