KDM5A (Jumonji, AT rich interactive domain 1A (RBBP2-like))
2006-04-01 Laura J.C.M. van Zutven , Anne R.M. von Bergh AffiliationAfdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Identity
HGNC
LOCATION
12p13.33
LOCUSID
ALIAS
RBBP-2,RBBP2,RBP2
FUSION GENES
DNA/RNA
Description
31 exons over 105 kb
Transcription
from centromere to telomere, yielding mRNA of 6,5 kb
Proteins
Description
JARID1A (Jumonji, AT-rich interactive domain 1A) encodes the 196 kDa retinoblastoma binding protein 2 (1722 amino acids). It contains several motifs, including a leucine-X-cysteine-X-glutamic acid (LXCXE) motif, which is important for association with the T/E1A pocket domain of the retinoblastoma protein. Additionally, the protein contains ARID, Jumonji, and 3 PHD (LAP) domains, which are frequent in proteins regulating transcription through changes in chromatin structure.
Expression
Widely expressed
Localisation
Nuclear
Function
Probably in regulating transcription through changes in chromatin structure
Homology
RBP2 homologue 1 (RBP2-H1)
Implicated in
Entity name
Note
Only one case to date, a 1- year-old boy
Prognosis
Patient reached complete remission and remains in complete remission (CR) for at least 5 years
Cytogenetics
complex/variant t(11;12)(p15;p13); i.e. t(11;21;12)(p15;p13;p13), but misdiagnosed as add(11)(p15) and der(21)t(11;21)(p15;p13). Chromosome 12 was cytogenetically normal by conventional banding techniques and only identified as a partner in this translocation after FISH.
Hybrid gene
5 NUP98 - 3 JARID1A, including the first 13 exons of NUP98 and exons 28-31 of JARID1A
Fusion protein
The NUP98-JARID1A fusion protein contains the Phe-Gly (FG) repeats of the N-terminal part of NUP98. The JARID1A sequence starting with exon 28 still contains the sequence encoding the C-terminal PHD domain.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15949438 | 2005 | Binding of pRB to the PHD protein RBP2 promotes cellular differentiation. | Benevolenskaya EV et al |
| 7935440 | 1994 | Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. | Kim YW et al |
| 16419055 | 2006 | Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene. | van Zutven LJ et al |
Other Information
Locus ID:
NCBI: 5927
MIM: 180202
HGNC: 9886
Ensembl: ENSG00000073614
Variants:
dbSNP: 5927
ClinVar: 5927
TCGA: ENSG00000073614
COSMIC: KDM5A
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| HDMs demethylate histones | REACTOME | R-HSA-3214842 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38230606 | 2024 | Histone demethylase KDM5 regulates cardiomyocyte maturation by promoting fatty acid oxidation, oxidative phosphorylation, and myofibrillar organization. | 4 |
| 38443978 | 2024 | Mechanism of KDM5A-mediated H3K4me3 modification in the osteogenic differentiation of mesenchymal stem cells in steroid-induced osteonecrosis of the femoral head. | 0 |
| 38230606 | 2024 | Histone demethylase KDM5 regulates cardiomyocyte maturation by promoting fatty acid oxidation, oxidative phosphorylation, and myofibrillar organization. | 4 |
| 38443978 | 2024 | Mechanism of KDM5A-mediated H3K4me3 modification in the osteogenic differentiation of mesenchymal stem cells in steroid-induced osteonecrosis of the femoral head. | 0 |
| 36112263 | 2023 | Fbxo22 inhibits metastasis in triple-negative breast cancer through ubiquitin modification of KDM5A and regulation of H3K4me3 demethylation. | 5 |
| 37880235 | 2023 | KDM5 family of demethylases promotes CD44-mediated chemoresistance in pancreatic adenocarcinomas. | 1 |
| 36112263 | 2023 | Fbxo22 inhibits metastasis in triple-negative breast cancer through ubiquitin modification of KDM5A and regulation of H3K4me3 demethylation. | 5 |
| 37880235 | 2023 | KDM5 family of demethylases promotes CD44-mediated chemoresistance in pancreatic adenocarcinomas. | 1 |
| 35126937 | 2022 | TSG Targeting KDM5A Affects Osteogenic Differentiation of Bone Mesenchymal Stem Cells Induced by Bone Morphogenetic Protein 2. | 0 |
| 35726891 | 2022 | KDM5A Inhibits Antitumor Immune Responses Through Downregulation of the Antigen-Presentation Pathway in Ovarian Cancer. | 3 |
| 35896939 | 2022 | Long non-coding RNA tumor protein 73 antisense RNA 1 influences an interaction between lysine demethylase 5A and promoter of tumor protein 73 to enhance the malignancy of colorectal cancer. | 1 |
| 36509829 | 2022 | Drawing a line between histone demethylase KDM5A and KDM5B: their roles in development and tumorigenesis. | 7 |
| 35126937 | 2022 | TSG Targeting KDM5A Affects Osteogenic Differentiation of Bone Mesenchymal Stem Cells Induced by Bone Morphogenetic Protein 2. | 0 |
| 35726891 | 2022 | KDM5A Inhibits Antitumor Immune Responses Through Downregulation of the Antigen-Presentation Pathway in Ovarian Cancer. | 3 |
| 35896939 | 2022 | Long non-coding RNA tumor protein 73 antisense RNA 1 influences an interaction between lysine demethylase 5A and promoter of tumor protein 73 to enhance the malignancy of colorectal cancer. | 1 |
Citation
Laura J.C.M. van Zutven ; Anne R.M. von Bergh
KDM5A (Jumonji, AT rich interactive domain 1A (RBBP2-like))
Atlas Genet Cytogenet Oncol Haematol. 2006-04-01
Online version: http://atlasgeneticsoncology.org/gene/41033/kdm5a-(jumonji-at-rich-interactive-domain-1a-(rbbp2-like))
