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  2. KDM5A - lysine demethylase 5A Gene

KDM5A - lysine demethylase 5A Gene

中文名称:赖氨酸脱甲基酶 5A

种属: Homo sapiens

同用名: RBP2; RBBP2; RBBP-2

基因 ID: 5927 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 Jumonji、富含 AT 的相互作用结构域 1 (JARID1) 组蛋白去甲基化酶蛋白家族的成员。编码的蛋白质通过特异性去甲基化组蛋白 H3 的赖氨酸 4,通过组蛋白密码在基因调控中发挥作用。编码的蛋白质与许多其他蛋白质相互作用,包括视网膜母细胞瘤蛋白,并且涉及 Hox 基因和细胞因子的转录调节。该基因可能在肿瘤进展中发挥作用。[RefSeq 提供,2013 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_001042603.3 NP_001036068.1 lysine-specific demethylase 5A
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
15640446 GOA
enables histone H3K4me/H3K4me2/H3K4me3 demethylase activity IDA
IDA: 通过直接分析推断
18270511 GOA
enables histone binding IDA
IDA: 通过直接分析推断
19430464 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21960634 GOA
enables transcription cis-regulatory region binding IMP
IMP: 通过突变表型推断
18270511 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
19430464 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11358960 GOA
involved in regulation of DNA-binding transcription factor activity IMP
IMP: 通过突变表型推断
18270511 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
18270511 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KDM5A 蛋白结构

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.
蛋白主名 其他名称

lysine-specific demethylase 5A

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

KDM5A 抗体

目录号 产品名 应用 反应物种
HY-P81819 KDM5A Antibody (YA1564) WB, ICC/IF, IP, FC Human, Mouse

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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