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  2. ATP10A - ATPase phospholipid transporting 10A (putative) Gene

ATP10A - ATPase phospholipid transporting 10A (putative) Gene

中文名称:ATPase 磷脂转运 10A (推定)

种属: Homo sapiens

同用名: ATPVA; ATPVC; ATP10C

基因 ID: 57194 | 基因类型: protein coding

关于 ATP10A

Cytogenetic location: 15q12 Genomic coordinates (GRCh38): 15:25,672,237-25,865,088 (from NCBI)

This gene has 19 transcripts (splice variants), 214 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 2.8), lung (RPKM 2.6) and 23 other tissues.

功能概要

该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族,以及氨基磷脂转运 ATP 酶亚家族。氨基磷脂转位酶将磷脂酰丝氨酸和磷脂酰乙醇胺从双层的一侧转运到另一侧。该基因是母系表达的。它映射在导致 Angelman 综合症 (也称为“快乐木偶综合症”) 的最常见缺失区间内。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]

ATP10A 基因产物(1)

mRNA Protein Name
NM_024490.4 NP_077816.1 phospholipid-transporting ATPase VA
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 glycosylceramide flippase activity IDA
IDA: 通过直接分析推断
30530492 GOA
enables phosphatidylcholine flippase activity IDA
IDA: 通过直接分析推断
25947375 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21914794 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of membrane tubulation IDA
IDA: 通过直接分析推断
29599178 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
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
25947375 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: 通过物理相互作用推断
25947375 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
25947375 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

ATP10A 蛋白结构

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (115 - 389)

HAD

HAD: haloacid dehalogenase-like hydrolase (424 - 1040)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1499 a.a.
蛋白主名 其他名称

phospholipid-transporting ATPase VA

ATPase type IV, phospholipid transporting (P-type)

ATP10A 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
ATP10A O60312 TMEM30A Homo sapiens Q9NV96 31571211
种属内
ATP10A O60312 TMEM30A Homo sapiens Q9NV96 25947375
种属内
ATP10A O60312 TMEM30A Homo sapiens Q9NV96 25947375
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
Angelman Syndrome Due To Imprinting Defect In 15q11-Q13
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

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

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

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 ATP10A RGD RGD:1306150
Mus musculus ATP10A MGD MGI:1330809
Canis familiaris ATP10A VGNC VGNC:53148
Macaca mulatta ATP10A VGNC VGNC:107999
Felis catus ATP10A VGNC VGNC:81034