2. Gene
  3. PRUNE1 - prune exopolyphosphatase 1 Gene

PRUNE1 - prune exopolyphosphatase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：西梅外聚磷酸酶 1

种属: Homo sapiens

同用名: PRUNE; DRES17; HTCD37; NMIHBA; DRES-17; H-PRUNE

基因 ID: 58497 | 基因类型: protein coding

关于 PRUNE1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,008,449-151,035,713 (from NCBI)

This gene has 11 transcripts (splice variants), 227 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 21.1), heart (RPKM 13.3) and 25 other tissues.

功能概要

该基因编码磷酸酯酶 DHH 蛋白超家族的成员。已发现该蛋白质同时作为核苷酸磷酸二酯酶和外多磷酸酶发挥作用。这种蛋白质被认为通过诱导细胞运动来刺激癌症进展和转移。已在 13 号染色体上鉴定出一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate Cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

PRUNE1 基因产物(4)

mRNA Protein Name
NM_001303229.2 NP_001290158.1 exopolyphosphatase PRUNE1 isoform 2
NM_001303242.2 NP_001290171.1 exopolyphosphatase PRUNE1 isoform 3
NM_001303243.2 NP_001290172.1 exopolyphosphatase PRUNE1 isoform 4
NM_021222.3 NP_067045.1 exopolyphosphatase PRUNE1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatase activity IDA
IDA: 通过直接分析推断
28334956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10602478 GOA
enables tubulin binding IDA
IDA: 通过直接分析推断
28334956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of microtubule polymerization IMP
IMP: 通过突变表型推断
28334956 GOA
involved in regulation of neurogenesis IMP
IMP: 通过突变表型推断
28334956 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

PRUNE1 蛋白结构

DHH

DHH: DHH family (20 - 176)

DHHA2

DHHA2: DHHA2 domain (215 - 359)

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

exopolyphosphatase PRUNE1

Drosophila-related expressed sequence 17

PRUNE1 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
PRUNE1 Q86TP1 NME1 Homo sapiens P15531
Y2H
10602478
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
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies

NMIHBA

Prune1-Related Neurological Syndrome
Ulnar Neuropathy

Ulnar Neuropathies
Cerebellar Hypoplasia
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

Infantile Cerebellooptic Atrophy

PEHO

Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Hypotonia
Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy
Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11263 PRUNE1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PRUNE1 VGNC VGNC:107607
Rattus norvegicus PRUNE1 RGD RGD:1359521
Bos taurus PRUNE1 VGNC VGNC:33428
Mus musculus PRUNE1 MGD MGI:1925152
Macaca mulatta PRUNE1 VGNC VGNC:76247
Canis familiaris PRUNE1 VGNC VGNC:45077
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