SETD1B - SET domain containing 1B, histone lysine methyltransferase Gene

中文名称：含 SET 域 1B，组蛋白赖氨酸甲基转移酶

种属: Homo sapiens

同用名: KMT2G; Set1B; IDDSELD

基因 ID: 23067 | 基因类型: protein coding

关于 SETD1B

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,790,155-121,832,656 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues, 19 paralogues and is associated with 83 phenotypes. Ubiquitous expression in endometrium (RPKM 7.9), spleen (RPKM 6.1) and 25 other tissues.

功能概要

SET1B 是组蛋白甲基转移酶复合物的一个组分，它在 Lys4 处产生三甲基化组蛋白 H3 (Lee 等人，2007 [PubMed 17355966]) 。[OMIM 提供，2008 年 3 月]

SET1B is a component of a Histone Methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]

SETD1B 基因产物(1)

mRNA	Protein	Name
NM_001353345.2	NP_001340274.1	histone-lysine N-methyltransferase SETD1B

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to histone H3K4 methyltransferase activity	IDA IDA: 通过直接分析推断	17355966	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17998332	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Set1C/COMPASS complex	IDA IDA: 通过直接分析推断	17998332	GOA
part of Set1C/COMPASS complex	IPI IPI: 通过物理相互作用推断	23508102	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	38003223	GOA
part of histone methyltransferase complex	IDA IDA: 通过直接分析推断	17355966	GOA
located in nucleus	IDA IDA: 通过直接分析推断	38003223	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

SETD1B 蛋白结构

RRM_1

N-SET

SET

0
400
800
1200
1600
1966 a.a.

蛋白主名

其他名称

histone-lysine N-methyltransferase SETD1B

SET domain-containing protein 1B

关联疾病

疾病名称

别名

Intellectual Developmental Disorder With Seizures And Language Delay

IDDSELD

Autosomal Dominant Non-Syndromic Intellectual Disability

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Ichthyosis, Congenital, Autosomal Recessive 3

Autosomal Recessive Congenital Ichthyosis 3	ARCI3
Lamellar Ichthyosis 5	Collodion Baby, Self-Healing
Ichthyosis, Lamellar, 5, Formerly	Li5, Formerly
Li5	Self-Healing Collodion Baby
Ichthyosis, Congenital, Autosomal Recessive, Type 3

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome	Mental Retardation, X-Linked, Snyder-Robinson Type
Spermine Synthase Deficiency	Srs
Snyder-Robinson Mental Retardation Syndrome	X-Linked Intellectual Disability Snyder-Robinson Type
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	Snyder-Robinson X-Linked Mental Retardation Syndrome

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9q34.3 Deletion Syndrome	9qstds
Chromosome 9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

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

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-RS12741	SETD1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SETD1B	VGNC	VGNC:65040
Macaca mulatta	SETD1B	VGNC	VGNC:100104
Canis familiaris	SETD1B	VGNC	VGNC:46053
Bos taurus	SETD1B	VGNC	VGNC:50140
Rattus norvegicus	SETD1B	RGD	RGD:2323325
Mus musculus	SETD1B	MGD	MGI:2652820

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SETD1B - SET domain containing 1B, histone lysine methyltransferase Gene

关于 SETD1B

功能概要

SETD1B 基因产物(1)

SETD1B 蛋白结构

关联疾病

直系同源

热门区域

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SETD1B - SET domain containing 1B, histone lysine methyltransferase Gene

关于 SETD1B

功能概要

SETD1B 基因产物(1)

SETD1B 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

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Z