DGCR8 - DGCR8 microprocessor complex subunit Gene

中文名称：DGCR8 微处理器复合体亚基

种属: Homo sapiens

同用名: Gy1; pasha; DGCRK6; C22orf12

基因 ID: 54487 | 基因类型: protein coding

关于 DGCR8

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,080,241-20,111,872 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and is associated with 63 phenotypes. Ubiquitous expression in testis (RPKM 13.8), placenta (RPKM 10.2) and 25 other tissues.

功能概要

该基因编码微处理器复合体的一个亚基，该亚基介导从初级 MicroRNA 转录本产生 MicroRNA 的生物发生。编码的蛋白质是一种双链 RNA 结合蛋白，作为微处理器复合体的非催化亚基发挥作用。这种蛋白质是结合双链 RNA 底物所必需的，并促进核糖核酸酶 III 蛋白质 Drosha 对 RNA 的切割。交替剪接导致多个转录本变体。[RefSeq 提供，2010 年 6 月]

This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of MicroRNAs from the primary MicroRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

DGCR8 基因产物(2)

mRNA	Protein	Name
NM_001190326.2	NP_001177255.1	microprocessor complex subunit DGCR8 isoform 2
NM_022720.7	NP_073557.3	microprocessor complex subunit DGCR8 isoform 1

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 double-stranded RNA binding	IDA IDA: 通过直接分析推断	17704815	GOA
enables heme binding	IDA IDA: 通过直接分析推断	24449907	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	15574589	GOA
enables primary miRNA binding	IDA IDA: 通过直接分析推断	24910438	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15574589	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	15574589	GOA
enables protein-RNA adaptor activity	IDA IDA: 通过直接分析推断	15574589	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	34188037	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	34188037	GOA
involved in positive regulation of pre-miRNA processing	IDA IDA: 通过直接分析推断	15574589	GOA
acts upstream of or within primary miRNA processing	IDA IDA: 通过直接分析推断	15531877	GOA
involved in primary miRNA processing	IDA IDA: 通过直接分析推断	15574589	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of microprocessor complex	IDA IDA: 通过直接分析推断	15574589	GOA
part of microprocessor complex	IPI IPI: 通过物理相互作用推断	24581491	GOA
located in nucleus	IDA IDA: 通过直接分析推断	15574589	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

DGCR8 蛋白结构

dsrm

0
200
400
600
773 a.a.

蛋白主名

其他名称

microprocessor complex subunit DGCR8

DiGeorge syndrome critical region 8

DGCR8 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
Intra	DGCR8	Q8WYQ5	DROSHA	Homo sapiens	Q9NRR4	Anti Tag CoIP	22796965
Intra	DGCR8	Q8WYQ5	DROSHA	Homo sapiens	Q9NRR4	Anti Tag CoIP	33961781
Intra	DGCR8	Q8WYQ5	DROSHA	Homo sapiens	Q9NRR4	Anti Tag CoIP	26496610
Intra	DGCR8	Q8WYQ5	DROSHA	Homo sapiens	Q9NRR4	Anti Tag CoIP	15574589
Intra	DGCR8	Q8WYQ5	DROSHA	Homo sapiens	Q9NRR4	GMS	24581491
Intra	DGCR8	Q8WYQ5	MEOX2	Homo sapiens	P50222	Validated Y2H	25416956
Intra	DGCR8	Q8WYQ5	SRPK1	Homo sapiens	Q96SB4	Anti Tag CoIP	33961781
Intra	DGCR8	Q8WYQ5	SRPK1	Homo sapiens	Q96SB4	BiFC	23602568
Intra	DGCR8	Q8WYQ5	MEOX2	Homo sapiens	P50222	Y2H Prey Pooling	25416956
Intra	DGCR8	Q8WYQ5	DGCR8	Homo sapiens	Q8WYQ5	Anti Tag CoIP	15574589
Intra	DGCR8	Q8WYQ5	SRPK1	Homo sapiens	Q96SB4	Anti Tag CoIP	23602568
Intra	DGCR8	Q8WYQ5	DGCR8	Homo sapiens	Q8WYQ5	GMS	17159994

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

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Acrocephalopolysyndactyly Type Iii

Sakati Syndrome	Sakati-Nyhan Syndrome
Acps With Leg Hypoplasia	Acps Iii
Acrocephalopolysyndactyly Type 3	Sakati-Nyhan-Tisdale Syndrome

Chromosomal Deletion Syndrome

X-Linked Hereditary Ataxia

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

Pineoblastoma

Pineal Pnet	Pinealoma
Pineal Gland Neoplasm	Pineocytoma
Tumor Of The Pineal Region

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Pineal Gland Cancer

Tumor Of The Pineal Region	Malignant Pineal Region Tumor
Malignant Tumor Of Pineal Gland	Neoplasm Of Pineal Gland
Neoplasm Of The Pineal Region	Pineal Body Neoplasm
Pineocytic Tumor	Malignant Neoplasm Of Pineal Gland
Pineal Gland Neoplasm	Pineocytoma

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Synchronous Bilateral Breast Carcinoma

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03714	DGCR8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	DGCR8	RGD	RGD:1306365
Bos taurus	DGCR8	VGNC	VGNC:28023
Felis catus	DGCR8	VGNC	VGNC:61457
Mus musculus	DGCR8	MGD	MGI:2151114
Macaca mulatta	DGCR8	VGNC	VGNC:71779
Others	DGCR8	NCBI

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