KDM5B - lysine demethylase 5B Gene

Homo sapiens

Also known as CT31; PLU1; PUT1; MRT65; PLU-1; JARID1B; PPP1R98; RBP2-H1; RBBP2H1A

Gene ID: 10765 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	15640446	GOA
enables histone H3K4 demethylase activity	IDA IDA: Inferred from direct assay	18048344	GOA
enables histone H3K4 demethylase activity	IMP IMP: Inferred from mutant phenotype	24952722	GOA
enables histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IDA IDA: Inferred from direct assay	20228790	GOA
enables histone H3K4me/H3K4me2/H3K4me3 demethylase activity	IMP IMP: Inferred from mutant phenotype	20403335	GOA
enables histone binding	IDA IDA: Inferred from direct assay	24952722	GOA
enables nucleic acid binding	EXP EXP: Inferred from Experiment	20403335	GOA
enables nucleic acid binding	IMP IMP: Inferred from mutant phenotype	20403335	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12657635	GOA
enables sequence-specific double-stranded DNA binding	IMP IMP: Inferred from mutant phenotype	20403335	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	12657635	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	24952722	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	28262558	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	20403335	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

KDM5B Protein Structure

JmjN

ARID

PHD

JmjC

zf-C5HC2

PLU-1

PHD

0
300
600
900
1200
1544 a.a.

Protein Preferred Names

Protein Names

lysine-specific demethylase 5B

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

KDM5B Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KDM5B	Q9UGL1	CTCF	Homo sapiens	P49711	Anti Bait CoIP	24937458

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-104048	QC6352	Inhibitor	99.48%	Unkown
HY-116761	GSK467	Inhibitor	99.55%	Unkown
HY-102047B	KDOAM-25 citrate	Inhibitor	98.11%	Unkown
HY-100744	AS8351	Inhibitor	99.19%	Unkown
HY-100014	KDM5A-IN-1	Inhibitor	99.80%	Unkown
HY-151483	TK-129	Inhibitor	≥98.0%	Unkown
HY-101451	PBIT	Inhibitor	99.46%	Unkown
HY-119397A	KDM5-C49 hydrochloride	Inhibitor	99.95%	Unkown
HY-100764	YUKA1	Inhibitor	99.56%	Unkown
HY-102047	KDOAM-25	Inhibitor	/	Unkown
HY-128343	KDM4-IN-2	Inhibitor	98.29%	Unkown
HY-149091	KDM5B-IN-4		99.68%	Unkown
HY-158432	GT-653	Degrader	/	Unkown
HY-102047A	KDOAM-25 trihydrochloride	Inhibitor	/	Unkown
HY-119397	KDM5-C49	Inhibitor	/	Unkown
HY-146670	KDM5B-IN-3	Inhibitor	/	Unkown
HY-158433	KDM5B ligand 2		/	Unkown
HY-RS07219	KDM5B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	KDM5B	NCBI

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