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Gene Review:

KDM5A - lysine (K)-specific demethylase 5A

Homo sapiens

Synonyms: Histone demethylase JARID1A, JARID1A, Jumonji/ARID domain-containing protein 1A, Lysine-specific demethylase 5A, RBBP-2, ...

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

Roesch, Becker, Meyer, Wild, Hafner, Landthaler, Vogt,

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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) [Pubmed]
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) [Pubmed]
JmjC: cupin metalloenzyme-like domains in jumonji, hairless and phospholipase A2beta. Clissold, P.M., Ponting, C.P. Trends Biochem. Sci. (2001) [Pubmed]
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) [Pubmed]
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) [Pubmed]
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) [Pubmed]
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) [Pubmed]
T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2. Mao, S., Neale, G.A., Goorha, R.M. Oncogene (1997) [Pubmed]
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) [Pubmed]
Isolation and regional assignment of human chromosome 12p cDNAs. Baens, M., Aerssens, J., van Zand, K., Van den Berghe, H., Marynen, P. Genomics (1995) [Pubmed]
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) [Pubmed]
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) [Pubmed]

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