Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene: JARID1A - jumonji, AT rich interactive domain 1A

Homo sapiens

Synonyms: Jumonji/ARID domain-containing protein 1A, Jumonji, AT rich interactive domain 1A (RBBP2-like), KDM5A, RBBP2, RBBP-2, RBP2, Retinoblastoma-binding protein 2

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Kashuba, V., Baens, M., Gray, S.G., Roesch, A., van Zutven, L.J., et al.

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Disease relevance of JARID1A

Two cDNAs were isolated that encode retinoblastoma binding proteins (RBP-1 and RBP-2) [1].
Therefore, in this study, we re-established the pRb-modulating function of RBP2-H1 in highly metastatic A375-SM melanoma cells by re-expressing its C-term (cRBP2-H1) [2].
These include human hairless, mutated in individuals with alopecia universalis, retinoblastoma-binding protein 2 and several putative chromatin-associated proteins [3].

High impact information on JARID1A

Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein [4].
We have cloned a gene, BDP, encoding a protein with homology to the retinoblastoma-binding proteins Rbp1 and Rbp2 [5].
JMJD2 proteins are characterized by the presence of two leukemia-associated protein/plant homeodomain (LAP/PHD) zinc fingers, one JmjN, one JmjC (containing an internal retinoblastoma-binding protein 2 (RBBP2)-like sequence), and two Tudor domains [6].
A protein with similarity to the human retinoblastoma binding protein 2 acts specifically as a repressor for genes regulated by the b mating type locus in Ustilago maydis [7].
T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2 [8].

Biological context of JARID1A

Based on RNA-fingerprinting of normal human melanocytes, we previously described a new family member with high sequence homology to the retinoblastoma-binding protein-2 (RBP-2), termed RBP2-Homolog 1 (RBP2-H1) [9].
Of the remaining 76 cDNA sequences, 11 matched previously identified human chromosome 12p genes and 3 matched previously determined cDNA sequences, including the retinoblastoma binding protein 2 (RBBP2), the cyclin-dependent kinase inhibitor KIP1, and an expressed sequence tag [10].
Using a NotI linking clone NR-025 as a probe, we isolated a novel putative member of the RB binding protein family, namely a human retinoblastoma binding protein 2 homologue (RBBP2H1A) [11].

Other interactions of JARID1A

Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene [12].
Homology analysis indicated that the predicted product has an overall 56% amino acid identity to RBBP2, which plays an important role in RB tumor suppressor regulation [11].

Analytical, diagnostic and therapeutic context of JARID1A

JARID1A was identified as the fusion partner of NUP98 using 3' RACE, RT-PCR, and FISH [12].

References

Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product. Defeo-Jones, D., Huang, P.S., Jones, R.E., Haskell, K.M., Vuocolo, G.A., Hanobik, M.G., Huber, H.E., Oliff, A. Nature (1991)
Re-expression of the retinoblastoma-binding protein 2-homolog 1 reveals tumor-suppressive functions in highly metastatic melanoma cells. Roesch, A., Becker, B., Schneider-Brachert, W., Hagen, I., Landthaler, M., Vogt, T. J. Invest. Dermatol. (2006)
JmjC: cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta. Clissold, P.M., Ponting, C.P. Trends Biochem. Sci. (2001)
Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. Kim, Y.W., Otterson, G.A., Kratzke, R.A., Coxon, A.B., Kaye, F.J. Mol. Cell. Biol. (1994)
Bdp, a new member of a family of DNA-binding proteins, associates with the retinoblastoma gene product. Numata, S., Claudio, P.P., Dean, C., Giordano, A., Croce, C.M. Cancer Res. (1999)
Functional characterization of JMJD2A, a histone deacetylase- and retinoblastoma-binding protein. Gray, S.G., Iglesias, A.H., Lizcano, F., Villanueva, R., Camelo, S., Jingu, H., Teh, B.T., Koibuchi, N., Chin, W.W., Kokkotou, E., Dangond, F. J. Biol. Chem. (2005)
A protein with similarity to the human retinoblastoma binding protein 2 acts specifically as a repressor for genes regulated by the b mating type locus in Ustilago maydis. Quadbeck-Seeger, C., Wanner, G., Huber, S., Kahmann, R., Kämper, J. Mol. Microbiol. (2000)
T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2. Mao, S., Neale, G.A., Goorha, R.M. Oncogene (1997)
Retinoblastoma-binding protein 2-homolog 1: a retinoblastoma-binding protein downregulated in malignant melanomas. Roesch, A., Becker, B., Meyer, S., Wild, P., Hafner, C., Landthaler, M., Vogt, T. Mod. Pathol. (2005)
Isolation and regional assignment of human chromosome 12p cDNAs. Baens, M., Aerssens, J., van Zand, K., Van den Berghe, H., Marynen, P. Genomics (1995)
Isolation and chromosomal localization of a new human retinoblastoma binding protein 2 homologue 1a (RBBP2H1A). Kashuba, V., Protopopov, A., Podowski, R., Gizatullin, R., Li, J., Klein, G., Wahlestedt, C., Zabarovsky, E. Eur. J. Hum. Genet. (2000)
Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene. van Zutven, L.J., Onen, E., Velthuizen, S.C., van Drunen, E., von Bergh, A.R., van den Heuvel-Eibrink, M.M., Veronese, A., Mecucci, C., Negrini, M., de Greef, G.E., Beverloo, H.B. Genes Chromosomes Cancer (2006)