ATAD3A - ATPase family AAA domain containing 3A Gene

中文名称：含 ATPase 家族 AAA 结构域 3A

种属: Homo sapiens

同用名: HAYOS; PHRINL

基因 ID: 55210 | 基因类型: protein coding

关于 ATAD3A

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,512,162-1,534,685 (from NCBI)

This gene has 8 transcripts (splice variants), 226 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.3), testis (RPKM 6.2) and 25 other tissues.

功能概要

该基因编码一种普遍表达的线粒体膜蛋白，该蛋白有助于线粒体动力学、类核组织、蛋白质翻译、细胞生长和胆固醇代谢。该基因是 ATPase 家族 AAA 结构域的成员，包含 3 个基因家族，在人类中，该家族包括另外两个旁系同源物。该基因中自然发生的突变与包括 Harel-Yoon 综合征在内的不同神经系统综合征有关。该基因的高水平表达与乳腺癌患者的低生存率有关。由于生长迟缓和滋养细胞谱系发育缺陷，小鼠中直系同源基因的纯合敲除导致胚胎在第 7.5 天死亡。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and Cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two Other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast Cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

ATAD3A 基因产物(3)

mRNA	Protein	Name
NM_001170535.3	NP_001164006.1	ATPase family AAA domain-containing protein 3A isoform 2
NM_001170536.3	NP_001164007.1	ATPase family AAA domain-containing protein 3A isoform 3
NM_018188.5	NP_060658.3	ATPase family AAA domain-containing protein 3A 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 identical protein binding	IPI IPI: 通过物理相互作用推断	30914652	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22664726	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	37832546	GOA
acts upstream of HRI-mediated signaling	IDA IDA: 通过直接分析推断	37832546	GOA
involved in antiviral innate immune response	IMP IMP: 通过突变表型推断	31522117	GOA
involved in negative regulation of apoptotic process	IMP IMP: 通过突变表型推断	20332122	GOA
involved in regulation of cell growth	IMP IMP: 通过突变表型推断	20332122	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	20349121	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	20332122	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

ATAD3A 蛋白结构

DUF3523

AAA

0
100
200
300
400
500
634 a.a.

蛋白主名

其他名称

ATPase family AAA domain-containing protein 3A

ATAD3A 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	ATAD3A	Q9NVI7	HSPD1	Homo sapiens	P10809	Anti Bait CoIP	22664726

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

Harel-Yoon Syndrome

HAYOS

Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome

Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal

PHRINL	Phrinl Syndrome
Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To Biallelic Deletions In The Atad3 Gene Cluster	Lethal 1p36.33 Deletion Syndrome
Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To A Point Mutation	Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome
Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Distress Syndrome	Fatal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Axonal Neuropathy

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Treacher Collins Syndrome 3

TCS3	Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive
Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive

Lissencephaly 6

Lis6

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy	Athetoid Dyskinetic Cerebral Palsy
Cerebral Palsy Athetoid	Cerebral Palsy Dyskinetic
Athetoid Cerebral Paralysis	Dyskinetic Cerebral Paralysis
Vogt Disease	Athetoid Cerebrum Palsy
Double Athetosis Syndrome	État Marbré

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Hypotonia

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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-RS01121	ATAD3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-P10326	Z-ATAD-FMK	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ATAD3A	MGD	MGI:1919214
Rattus norvegicus	ATAD3A	RGD	RGD:1305964

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

ATAD3A - ATPase family AAA domain containing 3A Gene

关于 ATAD3A

功能概要

ATAD3A 基因产物(3)

ATAD3A 蛋白结构

ATAD3A 蛋白互作信息

关联疾病

直系同源

热门区域

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ATAD3A - ATPase family AAA domain containing 3A Gene

关于 ATAD3A

功能概要

ATAD3A 基因产物(3)

ATAD3A 蛋白结构

ATAD3A 蛋白互作信息

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

Y

Z