KDM5A - lysine demethylase 5A Gene
Also Known as RBP2; RBBP2; RBBP-2
Species: Homo sapiens
About KDM5A
This gene has 11 transcripts (splice variants), 211 orthologues, 10 paralogues and is associated with 97 phenotypes. Ubiquitous expression in testis (RPKM 10.6), bone marrow (RPKM 8.6) and 25 other tissues.
Summary
This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) Histone Demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many Other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
KDM5A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042603.3 | NP_001036068.1 | lysine-specific demethylase 5A |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
15640446 | GOA |
| enables histone H3K4me/H3K4me2/H3K4me3 demethylase activity |
IDA
IDA: Inferred from direct assay
|
18270511 | GOA |
| enables histone binding |
IDA
IDA: Inferred from direct assay
|
19430464 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21960634 | GOA |
| enables transcription cis-regulatory region binding |
IMP
IMP: Inferred from mutant phenotype
|
18270511 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
19430464 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
11358960 | GOA |
| involved in regulation of DNA-binding transcription factor activity |
IMP
IMP: Inferred from mutant phenotype
|
18270511 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
18270511 | GOA |
KDM5A Protein Structure
JmjN: jmjN domain (20 - 53)
ARID: ARID/BRIGHT DNA binding domain (82 - 170)
PHD: PHD-finger (295 - 342)
JmjC: JmjC domain, hydroxylase (470 - 586)
zf-C5HC2: C5HC2 zinc finger (676 - 729)
PLU-1: PLU-1-like protein (740 - 1072)
PHD: PHD-finger (1163 - 1217)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1690 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lysine-specific demethylase 5A |
|
KDM5A Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P81819 | KDM5A Antibody (YA1564) | WB, ICC/IF, IP, FC | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
| Retinoblastoma |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Childhood Acute Megakaryoblastic Leukemia |
|
|
| Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
|
|
| Myeloid Leukemia |
|
|
| Idiopathic Peripheral Autonomic Neuropathy |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Autism Spectrum Disorder |
|
|
| Autism |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | KDM5A | VGNC | VGNC:30530 |
| Felis catus | KDM5A | VGNC | VGNC:69256 |
| Canis familiaris | KDM5A | VGNC | VGNC:42327 |
| Macaca mulatta | KDM5A | VGNC | VGNC:82169 |
| Mus musculus | KDM5A | MGD | MGI:2136980 |
| Rattus norvegicus | KDM5A | RGD | RGD:1305429 |
| Others | KDM5A | NCBI |