2. Gene
  3. ZPR1 - ZPR1 zinc finger Gene

ZPR1 - ZPR1 zinc finger Gene

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

中文名称：ZPR1 锌指

种属: Homo sapiens

同用名: GKAF; ZNF259

基因 ID: 8882 | 基因类型: protein coding

关于 ZPR1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:116,773,799-116,788,023 (from NCBI)

This gene has 9 transcripts (splice variants), 218 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.8), bone marrow (RPKM 9.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质存在于静止细胞的细胞质中，但在增殖细胞中易位至核仁。编码的蛋白质与存活运动神经元蛋白 (SMN1) 相互作用，以增强 pre-mRNA 剪接并诱导神经元分化和轴突生长。该基因或 SMN1 基因的缺陷可导致脊髓性肌萎缩症。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2015 年 11 月]

The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

ZPR1 基因产物(2)

mRNA Protein Name
NM_001317086.2 NP_001304015.1 zinc finger protein ZPR1 isoform 2
NM_003904.5 NP_003895.1 zinc finger protein ZPR1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 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
11283611 GOA
enables translation initiation factor binding IPI
IPI: 通过物理相互作用推断
9852145 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive effect DNA replication IMP
IMP: 通过突变表型推断
17068332 GOA
involved in axon development IMP
IMP: 通过突变表型推断
22422766 GOA
involved in cellular response to epidermal growth factor stimulus IDA
IDA: 通过直接分析推断
9852145 GOA
involved in positive regulation of RNA splicing IMP
IMP: 通过突变表型推断
11283611 GOA
involved in positive regulation of cell cycle IMP
IMP: 通过突变表型推断
29851065 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
22422766 GOA
involved in positive regulation of protein import into nucleus IDA
IDA: 通过直接分析推断
11283611 GOA
involved in pre-mRNA catabolic process IMP
IMP: 通过突变表型推断
11283611 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
11283611 GOA
located in Gemini of coiled bodies IDA
IDA: 通过直接分析推断
11283611 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
9763455 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
9763455 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
17068332 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9852145 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

ZPR1 蛋白结构

zf-ZPR1

zf-ZPR1: ZPR1 zinc-finger domain (49 - 207)

zf-ZPR1

zf-ZPR1: ZPR1 zinc-finger domain (257 - 416)

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

zinc finger protein ZPR1

zinc finger protein 259

关联疾病

疾病名称 别名
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies

GKAF
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Alopecia
Spinal Muscular Atrophy, Type Iii

SMA3

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma Iii

Kugelberg-Welander Syndrome

Kws

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

Spinal Muscular Atrophy-3

Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy, Type Iii, Modifier Of

Type Iii Spinal Muscular Atrophy

Sma 3

Proximal Spinal Muscular Atrophy Type 3

Sma Type 3

Sma Type Iii

Sma-Iii

Spinal Muscular Atrophy 3

Spinal Muscular Atrophy Mild Childhood And Adolescent Form

Spinal Muscular Atrophy Type Iii

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii
Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease

SMA1

Spinal Muscular Atrophy 1

Sma I

Sma, Infantile Acute Form

Muscular Atrophy, Infantile

Spinal Muscular Atrophy-1

Hmn Proximal Type I

Infantile Muscular Atrophy

Proximal Spinal Muscular Atrophy Type 1

Sma Type 1

Sma Type I

Sma-I

Hereditary Motor Neuropathy Proximal Type I

Progressive Muscular Atrophy Of Infancy

Proximal Spinal Muscular Atrophy, Type 1

Werdnig Hoffmann Disease

Infantile Spinal Muscular Atrophy

Infantile-Onset Spinal Muscular Atrophy

Proximal Hereditary Motor Neuropathy Type I

Sma Infantile Acute Form

Spinal Muscular Atrophy Type I

Werdnig-Hoffman Disease

Atrophy, Muscular, Spinal, Type 1
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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-RS16192 ZPR1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ZPR1 MGD MGI:1330262
Felis catus ZPR1 VGNC VGNC:67378
Macaca mulatta ZPR1 VGNC VGNC:107669
Bos taurus ZPR1 VGNC VGNC:37370
Canis familiaris ZPR1 VGNC VGNC:48846
Rattus norvegicus ZPR1 RGD RGD:1562173
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