1. Gene
  2. ATP8B4 - ATPase phospholipid transporting 8B4 (putative) Gene

ATP8B4 - ATPase phospholipid transporting 8B4 (putative) Gene

中文名称:ATPase 磷脂转运 8B4 (推定)

种属: Homo sapiens

同用名: ATPIM

基因 ID: 79895 | 基因类型: protein coding

关于 ATP8B4

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:49,858,238-50,181,854 (from NCBI)

This gene has 19 transcripts (splice variants), 194 orthologues and 13 paralogues. Broad expression in bone marrow (RPKM 8.4), placenta (RPKM 2.4) and 14 other tissues.

功能概要

该基因编码阳离子转运 ATP 酶 (P 型) 家族和 IV 型亚家族的成员。编码的蛋白质参与细胞膜中的磷脂转运。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 1 月]

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ATP8B4 基因产物(1)

mRNA Protein Name
NM_024837.4 NP_079113.2 probable phospholipid-transporting ATPase IM
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 protein binding IPI
IPI: 通过物理相互作用推断
20947505 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
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

ATP8B4 蛋白结构

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (84 - 349)

HAD

HAD: haloacid dehalogenase-like hydrolase (389 - 824)

  • 0
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  • 1000
  • 1192 a.a.
蛋白主名 其他名称

probable phospholipid-transporting ATPase IM

ATPase, class I, type 8B, member 4

ATP8B4 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
ATP8B4 Q8TF62 TMEM30A Homo sapiens Q9NV96 20961850
种属内
ATP8B4 Q8TF62 TMEM30A Homo sapiens Q9NV96 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
Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe

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 ATP8B4 RGD RGD:1306712
Canis familiaris ATP8B4 VGNC VGNC:59104
Macaca mulatta ATP8B4 VGNC VGNC:84311
Mus musculus ATP8B4 MGD MGI:1859664
Felis catus ATP8B4 VGNC VGNC:81033