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  2. ATP10D - ATPase phospholipid transporting 10D (putative) Gene

ATP10D - ATPase phospholipid transporting 10D (putative) Gene

中文名称:ATPase 磷脂转运 10D (推定)

种属: Homo sapiens

同用名: ATPVD

基因 ID: 57205 | 基因类型: protein coding

关于 ATP10D

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:47,485,275-47,593,486 (from NCBI)

This gene has 7 transcripts (splice variants), 226 orthologues and 13 paralogues. Ubiquitous expression in placenta (RPKM 7.9), skin (RPKM 7.8) and 25 other tissues.

功能概要

启用糖基神经酰胺翻转酶活性。预测参与磷脂易位。位于内质网;核质;和质膜。是质膜的组成部分。磷脂转运 ATP 酶复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Is integral component of plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

ATP10D 基因产物(1)

mRNA Protein Name
NM_020453.4 NP_065186.3 phospholipid-transporting ATPase VD
基因本体论
  • 分子功能
  • 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 protein binding IPI
IPI: 通过物理相互作用推断
21914794 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

ATP10D 蛋白结构

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (127 - 396)

HAD

HAD: haloacid dehalogenase-like hydrolase (436 - 1065)

  • 0
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  • 1426 a.a.
蛋白主名 其他名称

phospholipid-transporting ATPase VD

ATPase, class V, type 10D

关联疾病

疾病名称 别名
Leukoencephalopathy, Cystic, Without Megalencephaly

Cystic Leukoencephalopathy Without Megalencephaly

Rnaset2-Deficient Cystic Leukoencephalopathy

Rnase T2-Deficient Leukoencephalopathy

Clwm

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts

Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy

Lbatc

LCWM

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

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 ATP10D RGD RGD:1588541
Felis catus ATP10D VGNC VGNC:107312
Bos taurus ATP10D VGNC VGNC:55156
Macaca mulatta ATP10D VGNC VGNC:100201
Canis familiaris ATP10D VGNC VGNC:55155
Mus musculus ATP10D MGD MGI:2450125