1. Gene
  2. INPP5K - inositol polyphosphate-5-phosphatase K Gene

INPP5K - inositol polyphosphate-5-phosphatase K Gene

中文名称:肌醇聚磷酸-5-磷酸酶 K

种属: Homo sapiens

同用名: PPS; SKIP; MDCCAID

基因 ID: 51763 | 基因类型: protein coding

关于 INPP5K

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,494,577-1,516,612 (from NCBI)

This gene has 20 transcripts (splice variants), 287 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 17.9), lung (RPKM 14.5) and 25 other tissues.

功能概要

该基因编码一种对多磷酸肌醇具有 5-磷酸酶活性的蛋白质。该蛋白质定位于缺乏肌动蛋白应力纤维区域的胞质溶胶。人们认为这种蛋白质可能负向调节肌动蛋白细胞骨架。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 10 月]

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin Cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

INPP5K 基因产物(3)

mRNA Protein Name
NM_001135642.2 NP_001129114.1 inositol polyphosphate 5-phosphatase K isoform 2
NM_016532.4 NP_057616.2 inositol polyphosphate 5-phosphatase K isoform 1
NM_130766.3 NP_570122.1 inositol polyphosphate 5-phosphatase K isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to epidermal growth factor stimulus IDA
IDA: 通过直接分析推断
21712384 GOA
involved in cellular response to insulin stimulus IDA
IDA: 通过直接分析推断
12556481 GOA
involved in cellular response to tumor necrosis factor IDA
IDA: 通过直接分析推断
21712384 GOA
involved in dephosphorylation IDA
IDA: 通过直接分析推断
21712384 GOA
involved in dephosphorylation IMP
IMP: 通过突变表型推断
18774950 GOA
involved in negative regulation by host of viral transcription IDA
IDA: 通过直接分析推断
18774950 GOA
involved in negative regulation of D-glucose transmembrane transport IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of MAP kinase activity IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of calcium ion transport IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of glycogen biosynthetic process IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of insulin receptor signaling pathway IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of peptidyl-threonine phosphorylation IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of protein kinase activity IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of protein targeting to membrane IDA
IDA: 通过直接分析推断
12556481 GOA
involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate IDA
IDA: 通过直接分析推断
18774950 GOA
involved in negative regulation of stress fiber assembly IDA
IDA: 通过直接分析推断
12556481 GOA
acts upstream of or within phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
12536145 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
12556481 GOA
involved in ruffle assembly IDA
IDA: 通过直接分析推断
12556481 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
10753883 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
12536145 GOA
located in membrane IDA
IDA: 通过直接分析推断
12536145 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
10753883 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18774950 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
18774950 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12556481 GOA
located in ruffle IDA
IDA: 通过直接分析推断
12536145 GOA
located in ruffle membrane IDA
IDA: 通过直接分析推断
12556481 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
12556481 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

INPP5K 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (19 - 311)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 448 a.a.
蛋白主名 其他名称

inositol polyphosphate 5-phosphatase K

phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase

INPP5K 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
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6
Validated Y2H
32296183
种属内
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6
Y2H Array
32296183
种属内
INPP5K Q9BT40 KLK6 Homo sapiens Q92876
Y2H Pooling
32814053
种属内
INPP5K Q9BT40 KLK6 Homo sapiens Q92876
Validated Y2H
32814053
种属内
INPP5K Q9BT40 KLK6 Homo sapiens Q92876
Y2H Array
32814053
种属内
INPP5K Q9BT40 ATP5PF Homo sapiens P18859
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 ATP5PF Homo sapiens P18859
Y2H Array
32296183
种属内
INPP5K Q9BT40 FADS6 Homo sapiens Q8N9I5
Y2H Array
32296183
种属内
INPP5K Q9BT40 FADS6 Homo sapiens Q8N9I5
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 SFT2D2 Homo sapiens O95562
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 SFT2D2 Homo sapiens O95562
Y2H Array
32296183
种属内
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0
Y2H Array
32296183
种属内
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0
Validated Y2H
32296183
种属内
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013
Validated Y2H
25416956
种属内
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013
Y2H Array
32296183
种属内
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013
Anti Tag CoIP
33961781
种属内
INPP5K Q9BT40 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 ARL6IP1 Homo sapiens Q15041
Y2H Array
32296183
种属内
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1
Y2H
16002321
种属内
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1
Anti Tag CoIP
16002321
种属内
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1
IF
16002321
种属内
INPP5K Q9BT40 PBX3 Homo sapiens Q96AL5
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 PBX3 Homo sapiens Q96AL5
Y2H Array
32296183
种属内
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0
Y2H Prey Pooling
25416956
种属内
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0
Y2H Array
25416956
种属内
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0
Y2H Array
32296183
种属内
INPP5K Q9BT40 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
种属内
INPP5K Q9BT40 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
种属内
INPP5K Q9BT40 KRT31 Homo sapiens Q15323
Y2H Array
32296183
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
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

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 INPP5K RGD RGD:1359130
Bos taurus INPP5K VGNC VGNC:30214
Mus musculus INPP5K MGD MGI:1194899
Felis catus INPP5K VGNC VGNC:62931
Canis familiaris INPP5K VGNC VGNC:42036
Macaca mulatta INPP5K VGNC VGNC:73695