KMT5B - lysine methyltransferase 5B Gene

Also Known as CGI85; MRD51; CGI-85; SUV420H1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51111

About KMT5B

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,154,863-68,213,648 (from NCBI)

This gene has 22 transcripts (splice variants), 230 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.1), endometrium (RPKM 8.7) and 25 other tissues.

Summary

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

KMT5B Products (16)

mRNA	Protein	Name
NM_001300907.1	NP_001287836.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001300908.2	NP_001287837.1	histone-lysine N-methyltransferase KMT5B isoform 4
NM_001300909.2	NP_001287838.1	histone-lysine N-methyltransferase KMT5B isoform 5
NM_001363566.2	NP_001350495.1	histone-lysine N-methyltransferase KMT5B isoform 6
NM_001369424.1	NP_001356353.1	histone-lysine N-methyltransferase KMT5B isoform 7
NM_001369425.1	NP_001356354.1	histone-lysine N-methyltransferase KMT5B isoform 8
NM_001369426.1	NP_001356355.1	histone-lysine N-methyltransferase KMT5B isoform 1
NM_001369427.1	NP_001356356.1	histone-lysine N-methyltransferase KMT5B isoform 2
NM_001369428.1	NP_001356357.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369429.1	NP_001356358.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369430.1	NP_001356359.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369431.1	NP_001356360.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369432.1	NP_001356361.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369433.1	NP_001356362.1	histone-lysine N-methyltransferase KMT5B isoform 3
NM_016028.4	NP_057112.3	histone-lysine N-methyltransferase KMT5B isoform 2
NM_017635.5	NP_060105.3	histone-lysine N-methyltransferase KMT5B isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	28114273	GOA
enables histone H4K20 methyltransferase activity	IDA IDA: Inferred from direct assay	24396869	GOA
enables histone H4K20 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	28114273	GOA
enables histone methyltransferase activity	IDA IDA: Inferred from direct assay	17707234	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19074285	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	28114273	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	28114273	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

KMT5B Protein Structure

SET

0
200
400
600
800
885 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase KMT5B	[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B

KMT5B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Validated Y2H	32296183
Intra	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Y2H Prey Pooling	32296183
Intra	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 51	MRD51 Mental Retardation, Autosomal Dominant 51 Autosomal Dominant Intellectual Developmental Disorder 51 Autosomal Dominant Mental Retardation 51 Mental Retardation, Autosomal Dominant, Type 51
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
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
Syndromic X-Linked Intellectual Disability Nascimento Type	Mental Retardation, X-Linked Syndromic, Nascimento-Type X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Helsmoortel-Van Der Aa Syndrome	HVDAS Mrd28 Adnp Syndrome Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28 Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28, Formerly Mrd28, Formerly Autosomal Dominant Mental Retardation 28 Adnp-Related Intellectual Disability And Autism Spectrum Disorder Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
Non-Syndromic X-Linked Intellectual Disability 97	Mrx65 Mrx97 Mrxz X-Linked Mental Retardation 65 X-Linked Mental Retardation 97
Intellectual Developmental Disorder, Autosomal Dominant 23	MRD23 Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency Mental Retardation, Autosomal Dominant 23 Autosomal Dominant Non-Syndromic Intellectual Disability 23 Autosomal Dominant Intellectual Developmental Disorder 23 Autosomal Dominant Mental Retardation 23 Mental Retardation, Autosomal Dominant, Type 23
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
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
Type 1 Diabetes Mellitus 4	Diabetes Mellitus, Insulin-Dependent, 4 Iddm4 Insulin-Dependent Diabetes Mellitus 4 T1D4 Insulin-Dependent Diabetes Mellitus-4
White-Sutton Syndrome	WHSUS Mrd37 Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome Mental Retardation, Autosomal Dominant 37 Autosomal Dominant Mental Retardation 37 Pogz-Related Intellectual Disability Syndrome
Hyperoxaluria, Primary, Type I	Primary Hyperoxaluria Type 1 HP1 Glycolic Aciduria Alanine-Glyoxylate Aminotransferase Deficiency Hepatic Agt Deficiency Oxalosis I Primary Hyperoxaluria, Type I Serine:Pyruvate Aminotransferase Deficiency Hyperoxaluria, Primary, Type 1 Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency Serine Pyruvate Aminotransferase Deficiency Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Oxalosis 1 Hyperoxaluria Primary 1 Hyperoxaluria Primary Type I Ph1 Primary Hyperoxaluria Type I Oxalosis Type 1 2-Oxoglutarate Glyoxylate Carboligase Deficiency
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07407	KMT5B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21619	Kmt5b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28137	Kmt5b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KMT5B	RGD	RGD:1311637
Mus musculus	KMT5B	MGD	MGI:2444557
Felis catus	KMT5B	VGNC	VGNC:63163
Canis familiaris	KMT5B	VGNC	VGNC:42494
Macaca mulatta	KMT5B	VGNC	VGNC:74110
Others	KMT5B	NCBI