KDM5B - lysine demethylase 5B Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10765

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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (22)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-104048	QC6352	Inhibitor	99.13%	Unkown
HY-102047B	KDOAM-25 citrate	Inhibitor	98.56%	Unkown
HY-100744	AS8351	Inhibitor	99.88%	Unkown
HY-116761	GSK467	Inhibitor	99.34%	Unkown
HY-151483	TK-129	Inhibitor	≥98.0%	Unkown
HY-100014	KDM5A-IN-1	Inhibitor	99.64%	Unkown
HY-119397A	KDM5-C49 hydrochloride	Inhibitor	98.22%	Unkown
HY-101451	PBIT	Inhibitor	99.13%	Unkown
HY-149091	KDM5B-IN-4	Inhibitor	99.68%	Unkown
HY-158432	GT-653	Degrader	99.84%	Unkown
HY-100764	YUKA1	Inhibitor	99.15%	Unkown
HY-RS07219	KDM5B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-102047	KDOAM-25	Inhibitor	/	Unkown
HY-128343	KDM4-IN-2	Inhibitor	98.29%	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-175036	YTHu78		/	Unkown
HY-183618	DW-229	Degrader	/	Unkown
HY-RS16636	Kdm5b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23071	Kdm5b Rat Pre-designed siRNA Set A	Pre-designed Set	/	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