KDM5A - lysine demethylase 5A Gene

Also Known as RBP2; RBBP2; RBBP-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5927

About KDM5A

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:280,057-389,320 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KDM5A Protein Structure

JmjN

JmjN: jmjN domain (20 - 53)

ARID

ARID: ARID/BRIGHT DNA binding domain (82 - 170)

PHD

PHD: PHD-finger (295 - 342)

JmjC

JmjC: JmjC domain, hydroxylase (470 - 586)

zf-C5HC2

zf-C5HC2: C5HC2 zinc finger (676 - 729)

PLU-1

PLU-1: PLU-1-like protein (740 - 1072)

PHD

PHD: PHD-finger (1163 - 1217)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1690 a.a.
Protein Preferred Names Protein Names

lysine-specific demethylase 5A

  • Jumonji, AT rich interactive domain 1A (RBP2-like)

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
  • Non-Ds-Amkl

Retinoblastoma
  • RB

  • Trilateral Retinoblastoma

  • RB1

  • Retinoblastoma, Trilateral

  • Neuroblastoma Of Retina

  • Rb - Retinoblastoma

  • Eye Cancer, Retinoblastoma

  • Retinal Cancer

  • Retinal Tumor

  • Glioma, Retinal

  • Non-Hereditary Retinoblastoma

  • Childhood Cancer Retinoblastoma

  • Malignant Neoplasm Of Retina

  • Retinal Neoplasms

Childhood Acute Myeloid Leukemia
  • Childhood Acute Myeloid Leukaemia

  • Paediatric Acute Myeloid Leukaemia

  • Pediatric Acute Myeloid Leukemia

Childhood Acute Megakaryoblastic Leukemia
  • Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Syndromic X-Linked Intellectual Disability Claes-Jensen Type
  • Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

  • Mrxscj

  • Mrxsj

  • Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation

  • Syndromic X-Linked Mental Retardation Jarid1c-Related

Myeloid Leukemia
  • Myeloid Leukaemia

  • Leukaemia Myelogenous

  • Leukemia Myelogenous

  • Myeloid Granulocytic Leukaemia

  • Myeloid Granulocytic Leukemia

  • Non-Lymphocytic Leukemia

  • Leukemia, Myeloid

  • Granulocytic Leukaemia

  • Myelogenous Leukaemia

  • Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Idiopathic Peripheral Autonomic Neuropathy
Acute Megakaryocytic Leukemia
  • Acute Megakaryoblastic Leukemia

  • Acute Megakaryoblastic Leukaemia

  • Megakaryocytic Myelosis

  • Thrombocytic Leukaemia

  • Amkl

  • Aml M7

  • Acute Myeloblastic Leukemia Type 7

  • Acute Myeloid Leukemia M7

  • Megakaryoblastic Leukemia Acute

  • Leukemia, Megakaryoblastic, Acute

  • Acute Myeloid Leukaemia, M7

  • Acute Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Fab M7

  • Fab M7

  • Malignant Megakaryocytosis

  • M7 - Acute Megakaryoblastic Leukaemia

  • Megakaryoblastic Leukaemia

  • Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Nos

  • Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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