2. Gene
  3. KDM5B - lysine demethylase 5B Gene

KDM5B - lysine demethylase 5B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：赖氨酸脱甲基酶 5B

种属: Homo sapiens

同用名: CT31; PLU1; PUT1; MRT65; PLU-1; JARID1B; PPP1R98; RBP2-H1; RBBP2H1A

基因 ID: 10765 | 基因类型: protein coding

关于 KDM5B

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:202,724,495-202,808,421 (from NCBI)

This gene has 40 transcripts (splice variants), 283 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 55.0), skin (RPKM 8.8) and 18 other tissues.

功能概要

该基因编码赖氨酸特异性组蛋白去甲基化酶，属于包含 jumonji/ARID 结构域的组蛋白去甲基化酶家族。编码的蛋白质能够使组蛋白 H3 的三甲基化、二甲基化和单甲基化赖氨酸 4 去甲基化。该蛋白在转录抑制或某些肿瘤抑制基因中发挥作用，并在某些癌细胞中上调。这种蛋白质也可能在基因组稳定性和 DNA 修复中发挥作用。交替剪接导致多个转录本变体。[RefSeq 提供，2016 年 11 月]

This gene encodes a lysine-specific Histone Demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain Cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

KDM5B 基因产物(4)

mRNA Protein Name
NM_001314042.2 NP_001300971.1 lysine-specific demethylase 5B isoform 1
NM_001347591.2 NP_001334520.1 lysine-specific demethylase 5B isoform 3
NM_001399817.1 NP_001386746.1 lysine-specific demethylase 5B isoform 4
NM_006618.5 NP_006609.3 lysine-specific demethylase 5B isoform 2

KDM5B 蛋白结构

JmjN

JmjN: jmjN domain (33 - 66)

ARID

ARID: ARID/BRIGHT DNA binding domain (95 - 183)

PHD

PHD: PHD-finger (311 - 357)

JmjC

JmjC: JmjC domain, hydroxylase (486 - 602)

zf-C5HC2

zf-C5HC2: C5HC2 zinc finger (692 - 745)

PLU-1

PLU-1: PLU-1-like protein (756 - 1088)

PHD

PHD: PHD-finger (1178 - 1223)

PHD

PHD: PHD-finger (1492 - 1537)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1544 a.a.
蛋白主名 其他名称

lysine-specific demethylase 5B

[histone H3]-trimethyl-L-lysine(4) demethylase 5B

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 65

Mental Retardation, Autosomal Recessive 65

MRT65

Autosomal Recessive Intellectual Developmental Disorder 65
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Autosomal Dominant Non-Syndromic Intellectual Disability
Shukla-Vernon Syndrome

SHUVER
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
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
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
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
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
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
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

相关产品

Pre-clinical Phase
生物活性分子 (18)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-104048 QC6352 Inhibitor 99.48% 否
HY-100744 AS8351 Inhibitor 99.19% 否
HY-102047B KDOAM-25 citrate Inhibitor 98.11% 否
HY-116761 GSK467 Inhibitor 98.14% 否
HY-100014 KDM5A-IN-1 Inhibitor 99.80% 否
HY-101451 PBIT Inhibitor 99.57% 否
HY-151483 TK-129 Inhibitor ≥98.0% 否
HY-100764 YUKA1 Inhibitor 99.56% 否
HY-119397A KDM5-C49 hydrochloride Inhibitor 99.95% 否
HY-102047 KDOAM-25 Inhibitor / 否
HY-128343 KDM4-IN-2 Inhibitor 98.29% 否
HY-102047A KDOAM-25 trihydrochloride Inhibitor / 否
HY-119397 KDM5-C49 Inhibitor / 否
HY-146670 KDM5B-IN-3 Inhibitor / 否
HY-149091 KDM5B-IN-4 / 否
HY-158432 GT-653 Degrader / 否
HY-158433 KDM5B ligand 2 / 否
HY-RS07219 KDM5B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus KDM5B VGNC VGNC:30531
Canis familiaris KDM5B VGNC VGNC:42328
Mus musculus KDM5B MGD MGI:1922855
Felis catus KDM5B VGNC VGNC:63072
Rattus norvegicus KDM5B RGD RGD:1565602
Macaca mulatta KDM5B VGNC VGNC:73847
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