RANBP17

Gene Summary

Gene:RANBP17; RAN binding protein 17
Location:5q35.1
Summary:The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
Databases:VEGA, OMIM, HGNC, Ensembl, GeneCard, Gene
Protein:ran-binding protein 17
Source:NCBIAccessed: 16 March, 2017

Ontology:

What does this gene/protein do?
Show (8)

Cancer Overview

Research Indicators

Publications Per Year (1992-2017)
Graph generated 16 March 2017 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Karyotyping
  • CDK6
  • Acute Lymphocytic Leukaemia
  • DNA-Binding Proteins
  • Immunophenotyping
  • Translocation
  • Proto-Oncogene Proteins
  • Exons
  • Repressor Proteins
  • MLL
  • Proto-Oncogene Proteins c-bcr
  • Survival Rate
  • ran GTP-Binding Protein
  • Polymerase Chain Reaction
  • FISH
  • Adult T-Cell Leukemia-Lymphoma
  • Homeodomain Proteins
  • RIT1
  • Adolescents
  • ras Proteins
  • Case-Control Studies
  • Neoplastic Cell Transformation
  • Chromosome Banding
  • T-Lymphocytes
  • Chromosome 5
  • Transcription
  • Cytogenetic Analysis
  • BCR
  • Oncogene Proteins
  • TAL1
  • Tlx1 protein, mouse
  • Transcription Factors
  • Childhood Cancer
  • Tumor Suppressor Proteins
  • Gene Library
  • Chromosome Breakage
  • Chromosome Aberrations
  • Chromosome 14
  • Oncogene Fusion Proteins
Tag cloud generated 16 March, 2017 using data from PubMed, MeSH and CancerIndex

Specific Cancers (2)

Data table showing topics related to specific cancers and associated disorders. Scope includes mutations and abnormal protein expression.

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Latest Publications: RANBP17 (cancer-related)

Su XY, Della-Valle V, Andre-Schmutz I, et al.
HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32).
Blood. 2006; 108(13):4198-201 [PubMed] Related Publications
The t(5;14)(q35;q32) chromosomal translocation is specifically observed in up to 20% of childhood T-cell acute lymphoblastic leukemia (T-ALL). It affects the BCL11B/CTIP2 locus on chromosome 14 and the RANBP17-TLX3/HOX11L2 region on chromosome 5. It leads to ectopic activation of TLX3/HOX11L2. To investigate the reasons of the association between t(5;14) and T-ALL, we isolated the translocation breakpoints in 8 t(5;14) patients. Sequence analyses did not involve recombinase activity in the genesis of the translocation. We used DNAse1 hypersensitive experiments to locate transcriptional regulatory elements downstream of BCL11B. By transient transfection experiments, 2 of the 6 regions demonstrated cis-activation properties in T cells and were also effective on the TLX3 promoter. Our data indicate that the basis of the specific association between t(5;14) and T-ALL lies on the juxtaposition of TLX3 to long-range cis-activating regions active during T-cell differentiation.

Su XY, Busson M, Della Valle V, et al.
Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia.
Genes Chromosomes Cancer. 2004; 41(3):243-9 [PubMed] Related Publications
Most chromosomal translocations observed in T-cell acute lymphoblastic leukemia (T-ALL) often produce transcriptional activation of transcription factor oncogenes. Ectopic expression of the TLX3 (also known as HOX11L2) gene has been shown to be associated with a cryptic t(5;14)(q35;q32) translocation specific for a subtype of T-ALL. Here we report several examples of variant and alternative translocations resulting in expression of TLX3 in T-ALL, and we describe three of these translocations in detail. In particular, the CDK6 gene was rearranged in two t(5;7)(q35;q21) translocations. In two additional instances, fusion of the BCL11B (also known as CTIP2) and RANBP17/TLX3 loci were shown to result from subtle genomic insertion/deletion within these loci. This study further underscores that TLX3 expression in T-ALL is strongly associated with the presence of genomic rearrangements.

van der Burg M, Poulsen TS, Hunger SP, et al.
Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia.
Leukemia. 2004; 18(5):895-908 [PubMed] Related Publications
Chromosome aberrations are frequently observed in precursor-B-acute lymphoblastic leukemias (ALL) and T-cell acute lymphoblastic leukemias (T-ALL). These translocations can form leukemia-specific chimeric fusion proteins or they can deregulate expression of an (onco)gene, resulting in aberrant expression or overexpression. Detection of chromosome aberrations is an important tool for risk classification. We developed rapid and sensitive split-signal fluorescent in situ hybridization (FISH) assays for six of the most frequent chromosome aberrations in precursor-B-ALL and T-ALL. The split-signal FISH approach uses two differentially labeled probes, located in one gene at opposite sites of the breakpoint region. Probe sets were developed for the genes TCF3 (E2A) at 19p13, MLL at 11q23, ETV6 at 12p13, BCR at 22q11, SIL-TAL1 at 1q32 and TLX3 (HOX11L2) at 5q35. In normal karyotypes, two colocalized green/red signals are visible, but a translocation results in a split of one of the colocalized signals. Split-signal FISH has three main advantages over the classical fusion-signal FISH approach, which uses two labeled probes located in two genes. First, the detection of a chromosome aberration is independent of the involved partner gene. Second, split-signal FISH allows the identification of the partner gene or chromosome region if metaphase spreads are present, and finally it reduces false-positivity.

Berger R, Dastugue N, Busson M, et al.
t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).
Leukemia. 2003; 17(9):1851-7 [PubMed] Related Publications
To accurately estimate the incidence of HOX11L2 expression, and determine the associated cytogenetic features, in T-cell acute lymphoblastic leukemia (T-ALL), the Groupe Français de Cytogénétique Hématologique (GFCH) carried out a retrospective study of both childhood and adult patients. In total, 364 patients were included (211 children

MacLeod RA, Nagel S, Kaufmann M, et al.
Activation of HOX11L2 by juxtaposition with 3'-BCL11B in an acute lymphoblastic leukemia cell line (HPB-ALL) with t(5;14)(q35;q32.2).
Genes Chromosomes Cancer. 2003; 37(1):84-91 [PubMed] Related Publications
Cytogenetic analysis of a pediatric T-cell acute lymphoblastic leukemia (ALL) cell line (HPB-ALL) revealed the cryptic t(5;14)(q35;q32.2), recently found in 15-20% pediatric T-ALL patients, with 5q35 and 14q32.2 breakpoints at 5'-HOX11L2 and 3'-BCL11B, respectively. Expression of both BCL11B, which is hematologically restricted to T cells, and HOX11L2 was detected, whereas adjacent genes at 5q35 (RANBP17) and 14q32 (VRK1, HSU88895) were not dysregulated. Apparently, t(5;14)(q35;q32.2) serves to activate HOX11L2 by juxtaposition with elements downstream of BCL11B, implying a novel dysregulatory mechanism comparable to TCRA/D or IGH juxtaposition. As well as providing molecular cytogenetic documentation of t(5;14) ALL, this report validates HPB-ALL cells for investigating this important new disease entity in vitro.

Hansen-Hagge TE, Schäfer M, Kiyoi H, et al.
Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11).
Leukemia. 2002; 16(11):2205-12 [PubMed] Related Publications
The t(5;14)(q33-34;q11) translocation constitutes a recurrent rearrangement in acute lymphoblastic leukemia involving the T cell receptor (TCR) delta locus on chromosome 14. Breakpoint sequences of the derivative chromosome 5 were isolated by application of a ligation-mediated PCR technique using TCR delta-specific primers to amplify genomic DNA from the leukemic cells of a patient with t(5;14). Through exon trap analysis, we identified various putative exons of the chromosome 5 target gene of the translocation; compilation of sequence information of trapped exons and available expressed sequence tags (ESTs) from the GenBank database allowed us to assemble 1.2 kb of the cDNA. Full-length cDNAs were isolated from a human testis cDNA library and sequence analysis predicted a putative Ran binding protein, a novel member of the importin-beta superfamily of nuclear transport receptors, called RanBP17. The t(5;14) breakpoint maps to the 3' coding region of the gene. The breakpoint of a second t(5;14) positive patient was mapped about 8 kb downstream of the most 3' RanBP17 exon and 2 kb upstream of the first exon of the orphan homeobox gene, Hox11L2. In both cases TCR delta enhancer sequences are juxtaposed downstream of the truncated or intact RanBP17 gene, respectively on the derivative chromosome.

Bernard OA, Busson-LeConiat M, Ballerini P, et al.
A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
Leukemia. 2001; 15(10):1495-504 [PubMed] Related Publications
FISH identified a cryptic t(5;14)(q35;q32) in T acute lymphoblastic leukemia (ALL), whereas it was not observed in B ALL samples. This translocation is present in five out of 23 (22%) children and adolescents with T ALL tested. RanBP17, a gene coding for a member of the importin beta protein family, and Hox11Like2, an orphan homeobox gene were mapped close to the chromosome 5 breakpoints and CTIP2, which is highly expressed during normal T cell differentiation, was localized in the vicinity of the chromosome 14 breakpoints. The Hox11L2 gene was found to be transcriptionally activated as a result of the translocation, probably under the influence of CTIP2 transcriptional regulation elements. These data establish the t(5;14)(q35;q32) as a major abnormality, and Hox11 family member activation as an important pathway in T ALL leukemogenesis.

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Cite this page: Cotterill SJ. RANBP17, Cancer Genetics Web: http://www.cancer-genetics.org/RANBP17.htm Accessed:

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