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  2. INPP4A - inositol polyphosphate-4-phosphatase type I A Gene

INPP4A - inositol polyphosphate-4-phosphatase type I A Gene

中文名称:IA 型肌醇多磷酸 4 磷酸酶

种属: Homo sapiens

同用名: INPP4; TVAS1

基因 ID: 3631 | 基因类型: protein coding

关于 INPP4A

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,444,587-98,594,392 (from NCBI)

This gene has 10 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 6.3), spleen (RPKM 4.2) and 24 other tissues.

功能概要

该基因编码一种独立于 Mg++ 的酶,该酶可水解磷脂酰肌醇 3,4-二磷酸、肌醇 1,3,4-三磷酸和肌醇 3,4-二磷酸的肌醇环上的 4 位磷酸盐。已经描述了编码不同亚型的多个转录变体。[RefSeq 提供,2008 年 8 月]

This gene encodes an Mg++ independent Enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]

INPP4A 基因产物(10)

mRNA Protein Name
NM_001134224.2 NP_001127696.1 inositol polyphosphate-4-phosphatase type I A isoform d
NM_001134225.2 NP_001127697.1 inositol polyphosphate-4-phosphatase type I A isoform c
NM_001351424.1 NP_001338353.1 inositol polyphosphate-4-phosphatase type I A isoform e
NM_001351425.2 NP_001338354.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351426.2 NP_001338355.1 inositol polyphosphate-4-phosphatase type I A isoform f
NM_001351427.2 NP_001338356.1 inositol polyphosphate-4-phosphatase type I A isoform a
NM_001351428.2 NP_001338357.1 inositol polyphosphate-4-phosphatase type I A isoform g
NM_001351429.2 NP_001338358.1 inositol polyphosphate-4-phosphatase type I A isoform h
NM_001566.2 NP_001557.1 inositol polyphosphate-4-phosphatase type I A isoform b
NM_004027.3 NP_004018.1 inositol polyphosphate-4-phosphatase type I A isoform a
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
25869668 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
30071275 GOA
located in nucleus IDA
IDA: 通过直接分析推断
30071275 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
蛋白主名 其他名称

inositol polyphosphate-4-phosphatase type I A

inositol polyphosphate-4-phosphatase, type I, 107kD

关联疾病

疾病名称 别名
Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1

Dyskeratosis Congenita, Scoggins Type

Autosomal Dominant Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Dominant, Type 1

Dyskeratosis Congenita, Autosomal Dominant

Pectus Excavatum

Funnel Chest

Congenital Pectus Excavatum

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Hypotonia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

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

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
Bos taurus INPP4A VGNC VGNC:30209
Mus musculus INPP4A MGD MGI:1931123
Canis familiaris INPP4A VGNC VGNC:42028
Rattus norvegicus INPP4A RGD RGD:68386
Felis catus INPP4A VGNC VGNC:67805
Macaca mulatta INPP4A VGNC VGNC:73747