JMJD1C - jumonji domain containing 1C Gene

中文名称：含 Jumonji 域 1

种属: Homo sapiens

同用名: KDM3C; TRIP8; TRIP-8

基因 ID: 221037 | 基因类型: protein coding

关于 JMJD1C

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:63,167,225-63,521,890 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 14.8), gall bladder (RPKM 12.0) and 25 other tissues.

功能概要

该基因编码的蛋白质与甲状腺激素受体相互作用，并包含一个 jumonji 结构域。它是一种候选组蛋白去甲基化酶，被认为是关键转录因子的共激活因子。它通过使 DNA 损伤检查点 1 (MDC1) 蛋白的介质去甲基化，在 DNA 损伤反应通路中发挥作用，并且是急性髓系白血病存活所必需的。该基因的突变与 Rett 综合征和智力障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate Histone Demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

JMJD1C 基因产物(7)

mRNA	Protein	Name
NM_001282948.2	NP_001269877.1	probable JmjC domain-containing histone demethylation protein 2C isoform c
NM_001318153.2	NP_001305082.1	probable JmjC domain-containing histone demethylation protein 2C isoform d
NM_001318154.2	NP_001305083.1	probable JmjC domain-containing histone demethylation protein 2C isoform c
NM_001322252.2	NP_001309181.1	probable JmjC domain-containing histone demethylation protein 2C isoform e
NM_001322254.2	NP_001309183.1	probable JmjC domain-containing histone demethylation protein 2C isoform f
NM_001322258.2	NP_001309187.1	probable JmjC domain-containing histone demethylation protein 2C isoform f
NM_032776.3	NP_116165.1	probable JmjC domain-containing histone demethylation protein 2C isoform a

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	17353003	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

JMJD1C 蛋白结构

JmjC

0
400
800
1200
1600
2000
2400
2540 a.a.

蛋白主名

其他名称

probable JmjC domain-containing histone demethylation protein 2C

TR-interacting protein 8

JMJD1C 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	JMJD1C	Q15652	AR	Homo sapiens	P10275	Pull Down	17353003
种属内	JMJD1C	Q15652	AR	Homo sapiens	P10275	Y2H	17353003

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 JMJD1C 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71548	JMJD1C Protein, Human (His-SUMO-Myc)	Q15652-1 (M2274-R2498)	≥95%

关联疾病

疾病名称

别名

Central Nervous System Germinoma

Germinoma Of The Central Nervous System	Intracranial Germinoma
Germinoma Of Cns

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

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

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-162275	JMJD1C-IN-1		99.99%	否
HY-RS16249	Jmjd1c Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS07037	JMJD1C Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	JMJD1C	VGNC	VGNC:42187
Mus musculus	JMJD1C	MGD	MGI:1918614
Macaca mulatta	JMJD1C	VGNC	VGNC:73819
Bos taurus	JMJD1C	VGNC	VGNC:30376
Rattus norvegicus	JMJD1C	RGD	RGD:708458
Others	JMJD1C	NCBI

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