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  2. DNMT3L - DNA methyltransferase 3 like Gene

DNMT3L - DNA methyltransferase 3 like Gene

中文名称:DNA 甲基转移酶 3 样

种属: Homo sapiens

基因 ID: 29947 | 基因类型: protein coding

关于 DNMT3L

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,246,339-44,261,897 (from NCBI)

This gene has 4 transcripts (splice variants), 249 orthologues and 4 paralogues. Biased expression in liver (RPKM 1.3), kidney (RPKM 1.0) and 3 other tissues.

功能概要

CpG 甲基化是一种表观遗传修饰,对胚胎发育、印记和 X 染色体失活很重要。对小鼠的研究表明,DNA 甲基化是哺乳动物发育所必需的。该基因编码一种与 DNA 甲基转移酶相似的核蛋白,但不被认为具有 DNA 甲基转移酶的功能,因为它不包含甲基转移酶活性所必需的氨基酸残基。然而,它确实通过 DNA 胞嘧啶甲基转移酶 3 α 刺激从头甲基化,并且被认为是建立母体基因组印记所必需的。该蛋白还通过与组蛋白脱乙酰酶 1 的相互作用介导转录抑制。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA Methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

DNMT3L 基因产物(2)

mRNA Protein Name
NM_013369.4 NP_037501.2 DNA (cytosine-5)-methyltransferase 3-like isoform 1
NM_175867.3 NP_787063.1 DNA (cytosine-5)-methyltransferase 3-like isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme activator activity IDA
IDA: 通过直接分析推断
16543361 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
12202768 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12202768 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of gene expression, epigenetic IDA
IDA: 通过直接分析推断
12202768 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of catalytic complex IPI
IPI: 通过物理相互作用推断
25383530 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
蛋白主名 其他名称

DNA (cytosine-5)-methyltransferase 3-like

DNA (cytosine-5-)-methyltransferase 3-like

DNMT3L 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
DNMT3L Q9UJW3 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
12202768
种属内
DNMT3L Q9UJW3 HDAC1 Homo sapiens Q13547
Pull Down
12202768
种属内
DNMT3L Q9UJW3 RSL24D1 Homo sapiens Q9UHA3
Validated Y2H
25416956
种属内
DNMT3L Q9UJW3 RSL24D1 Homo sapiens Q9UHA3
Y2H Pooling
16189514
种属内
DNMT3L Q9UJW3 RSL24D1 Homo sapiens Q9UHA3
Y2H Array
25416956
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
Testicular Spermatocytic Seminoma

Spermatocytic Seminoma

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome

Atr, Nondeletion Type

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Atrx Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type

Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked

X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome

Xlmr Hypotonic Face Syndrome

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Mental Retardation Syndrome

Alpha Thalassemia/Mental Retardation, X-Linked

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type

X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

Xlmr-Hypotonic Face Syndrome

Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Tatton-Brown-Rahman Syndrome

TBRS

Dnmt3a Overgrowth Syndrome

Tatton-Brown-Rahman Overgrowth Syndrome

Dos

Dnmt3a-Related Overgrowth Syndrome

Doid:0112339

Dose

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

Taylor'S Syndrome

Pelvic Congestion Syndrome

Congestion-Fibrosis Syndrome

Taylor Syndrome

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy

ADCADN

Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy

Adca-Dn Syndrome

Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome

Adca-Dn

Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome

Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Alpha-Thalassemia Myelodysplasia Syndrome

ATMDS

Acquired Hemoglobin H Disease

Alpha-Thalassemia Myelodysplasia Syndrome, Somatic

Acquired Hbh Disease

Alpha-Thalassemia-Myelodysplastic Syndrome

Hemoglobin H Disease, Acquired

Acquired Alpha-Thalassemia With Myelodysplastic Syndrome

Hemoglobin H Disease Acquired

Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic

Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

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

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DNMT3L RGD RGD:1303239
Macaca mulatta DNMT3L VGNC VGNC:108397
Mus musculus DNMT3L MGD MGI:1859287
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