KMT5B - lysine methyltransferase 5B Gene

中文名称：赖氨酸甲基转移酶 5B

种属: Homo sapiens

同用名: CGI85; MRD51; CGI-85; SUV420H1

基因 ID: 51111 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种包含 SET 结构域的蛋白质。 SET 结构域似乎是蛋白质-蛋白质相互作用结构域，介导与显示与双特异性磷酸酶 (dsPTPases) 相似性的蛋白质家族的相互作用。该基因的功能尚未确定。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2014 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables chromatin binding	IDA IDA: 通过直接分析推断	28114273	GOA
enables histone H4K20 methyltransferase activity	IDA IDA: 通过直接分析推断	24396869	GOA
enables histone H4K20 methyltransferase activity	IMP IMP: 通过突变表型推断	28114273	GOA
enables histone methyltransferase activity	IDA IDA: 通过直接分析推断	17707234	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19074285	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA repair	IMP IMP: 通过突变表型推断	28114273	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IMP IMP: 通过突变表型推断	28114273	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

KMT5B 蛋白结构

SET

0
200
400
600
800
885 a.a.

蛋白主名

其他名称

histone-lysine N-methyltransferase KMT5B

[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B

KMT5B 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Validated Y2H	32296183
种属内	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Y2H Prey Pooling	32296183
种属内	KMT5B	Q4FZB7	TSPYL2	Homo sapiens	Q9H2G4	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07407	KMT5B Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21619	Kmt5b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28137	Kmt5b Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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