ADAT3 - adenosine deaminase tRNA specific 3 Gene

中文名称：腺苷脱氨酶 tRNA 特异性 3

种属: Homo sapiens

同用名: TAD3; MRT36; FWP005; MST121; NEDBGF; S863-5; MSTP121

基因 ID: 113179 | 基因类型: protein coding

关于 ADAT3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,905,399-1,913,447 (from NCBI)

This gene has 2 transcripts (splice variants), 133 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in colon (RPKM 2.1), stomach (RPKM 1.3) and 22 other tissues.

功能概要

该基因编码 tRNA 特异性腺苷脱氨酶的一个亚基。这种异二聚体酶将 tRNA 反密码子中的腺苷转化为肌苷。该基因的突变会导致以智力障碍和斜视为特征的综合症。该基因与重叠基因、分泌性载体膜蛋白 4 (基因 ID：113178) 共享其 5' 外显子。[RefSeq 提供，2016 年 7 月]

This gene encodes a subunit of a tRNA-specific Adenosine Deaminase. This heterodimeric Enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]

ADAT3 基因产物(2)

mRNA	Protein	Name
NM_001329533.2	NP_001316462.1	probable inactive tRNA-specific adenosine deaminase-like protein 3 isoform 2
NM_138422.4	NP_612431.2	probable inactive tRNA-specific adenosine deaminase-like protein 3 isoform 1

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	32296183	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

ADAT3 蛋白结构

dCMP_cyt_deam_1

0
100
200
300
351 a.a.

蛋白主名

其他名称

probable inactive tRNA-specific adenosine deaminase-like protein 3

adenosine deaminase, tRNA-specific 3, TAD3 homolog

ADAT3 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	ADAT3	Q96EY9	ADAT2	Homo sapiens	Q7Z6V5	Anti Tag CoIP	33961781
Intra	ADAT3	Q96EY9	FBLIM1	Homo sapiens	Q8WUP2	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	FBLIM1	Homo sapiens	Q8WUP2	Y2H Array	32296183
Intra	ADAT3	Q96EY9	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	SORBS3	Homo sapiens	O60504	Y2H Array	32296183
Intra	ADAT3	Q96EY9	CDA	Homo sapiens	P32320	Y2H Prey Pooling	32296183
Intra	ADAT3	Q96EY9	CDA	Homo sapiens	P32320	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

Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies

Intellectual Disability-Strabismus Syndrome	NEDBGF
Mental Retardation, Autosomal Recessive 36, Formerly	Mrt36, Formerly
Autosomal Recessive Mental Retardation 36	Mrt36
Mental Retardation, Autosomal Recessive, Type 36

Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

46,Xy Sex Reversal 9

SRXY9	46,Xy Sex Reversal, Zfpm2-Related
46xy Sex Reversal 9

Myxosarcoma

Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia	Riley-Day Syndrome
Dysautonomia, Familial	HSAN3
Hsan Iii	Fd
Hereditary Sensory And Autonomic Neuropathy Type Iii	Dys
Hereditary Sensory And Autonomic Neuropathy 3	Riley Day Syndrome
Familial Autonomic Nervous Dysfunction	Hereditary Sensory Autonomic Neuropathy Type Iii
Hsan 3	Hsn 3
Hereditary Sensory Neuropathy Type 3	Hsan Type Iii
Hsn-Iii	Hereditary Sensory And Autonomic Neuropathy Type 3
Neuropathy, Hereditary Sensory And Autonomic, 3	Hsn Iii
Dysautonomia Familial	Neuropathy, Sensory And Autonomic, Hereditary, Type Iii
Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Syndromic Intellectual Disability

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS00322	ADAT3 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	ADAT3	RGD	RGD:1642417
Macaca mulatta	ADAT3	VGNC	VGNC:108458
Mus musculus	ADAT3	MGD	MGI:1924344

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