ATP8A1 - ATPase phospholipid transporting 8A1 Gene

中文名称：ATP 酶磷脂转运 8A1

种属: Homo sapiens

同用名: ATPIA; ATPP2; ATPASEII

基因 ID: 10396 | 基因类型: protein coding

关于 ATP8A1

Cytogenetic location: 4p13 Genomic coordinates (GRCh38): 4:42,408,373-42,657,105 (from NCBI)

This gene has 11 transcripts (splice variants), 229 orthologues and 13 paralogues. Broad expression in brain (RPKM 28.9), thyroid (RPKM 28.5) and 20 other tissues.

功能概要

P 型三磷酸腺苷酶 (P 型 ATP 酶) 是一个蛋白质家族，它利用 ATP 水解的自由能来驱动离子跨膜上坡运输。已经确定了 P 型 ATP 酶的几个亚家族。一个亚家族催化重金属离子的运输。另一个亚家族运输非重金属离子 (NMHI) 。由该基因编码的蛋白质是 P 型 ATP 酶第三亚家族的成员，用于运输两亲性物质，例如磷脂酰丝氨酸。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP8A1 基因产物(6)

mRNA	Protein	Name
NM_001105529.1	NP_001098999.1	phospholipid-transporting ATPase IA isoform b
NM_001400024.1	NP_001386953.1	phospholipid-transporting ATPase IA isoform c
NM_001400025.1	NP_001386954.1	phospholipid-transporting ATPase IA isoform d
NM_001400026.1	NP_001386955.1	phospholipid-transporting ATPase IA isoform e
NM_001400027.1	NP_001386956.1	phospholipid-transporting ATPase IA isoform f
NM_006095.2	NP_006086.1	phospholipid-transporting ATPase IA isoform a

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 phosphatidylserine flippase activity	IDA IDA: 通过直接分析推断	31416931	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20947505	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in aminophospholipid translocation	IDA IDA: 通过直接分析推断	31416931	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	20947505	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	21914794	GOA
part of phospholipid-translocating ATPase complex	IDA IDA: 通过直接分析推断	31416931	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: 通过物理相互作用推断	20961850	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	20947505	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

ATP8A1 蛋白结构

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1164 a.a.

蛋白主名

其他名称

phospholipid-transporting ATPase IA

ATPase II

ATP8A1 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	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Confocal	20947505
种属内	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	20961850
种属内	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Confocal	20961850

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

Spastic Paraplegia 84, Autosomal Recessive

SPG84	Hereditary Spastic Paraplegia 84
Spastic Paraplegia 84 Autosomal Recessive	Doid:0112347

Spastic Paraplegia 85, Autosomal Recessive

SPG85	Hereditary Spastic Paraplegia 85
Spastic Paraplegia 85 Autosomal Recessive	Doid:0112345

Spastic Paraplegia 86, Autosomal Recessive

SPG86	Hereditary Spastic Paraplegia 86
Spastic Paraplegia 86 Autosomal Recessive	Doid:0112342

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome	CAMRQ1
Des	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
Cerebellar Hypoplasia, Vldlr-Associated	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome	Uner Tan Syndrome
Vldlr Cerebellar Hypoplasia	Vldlrch
Vldlr-Associated Cerebellar Hypoplasia	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive	Camrq
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1	Cerebellar Disorder, Nonprogressive, With Intellectual Disability
Cerebellar Hypoplasia, Vldlr Associated	Autosomal Recessive Cerebellar Ataxia With Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification	Cerebellar Disorder, Nonprogressive, With Mental Retardation
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion	Chmrq1
Des-Vldlr	Dysequilibrium Syndrome-Vldlr
Vldlr-Ch	Camrq Syndrome
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome	Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
Uts	Cerebellar Hypoplasia Vldlr-Associated
Dialysis Disequilibrium Syndrome

Spinal Chordoma

Chordoma Of Spine

Vertebral Chordoma

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

Complex Partial Epilepsy

Epilepsy, Complex Partial	Complex Partial Epileptic Seizure
Epilepsy, Psychomotor	Psychomotor Epilepsy

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

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-RS01237	ATP8A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01239	ATP8B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ATP8A1	VGNC	VGNC:70061
Bos taurus	ATP8A1	VGNC	VGNC:26329
Rattus norvegicus	ATP8A1	RGD	RGD:1309619
Felis catus	ATP8A1	VGNC	VGNC:60027
Mus musculus	ATP8A1	MGD	MGI:1330848
Canis familiaris	ATP8A1	VGNC	VGNC:38287

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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）

ATP8A1 - ATPase phospholipid transporting 8A1 Gene

关于 ATP8A1

功能概要

ATP8A1 基因产物(6)

ATP8A1 蛋白结构

ATP8A1 蛋白互作信息

关联疾病

直系同源

热门区域

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ATP8A1 - ATPase phospholipid transporting 8A1 Gene

关于 ATP8A1

功能概要

ATP8A1 基因产物(6)

ATP8A1 蛋白结构

ATP8A1 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