1. Gene
  2. PURA - purine rich element binding protein A Gene

PURA - purine rich element binding protein A Gene

中文名称:富嘌呤元素结合蛋白 A

种属: Homo sapiens

同用名: PUR1; MRD31; NEDRIHF; PURALPHA; PUR-ALPHA

基因 ID: 5813 | 基因类型: protein coding

关于 PURA

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,114,109-140,125,619 (from NCBI)

This gene has 5 transcripts (splice variants), 243 orthologues, 2 paralogues and is associated with 4 phenotypes.

功能概要

该基因产物是一种序列特异性的单链 DNA 结合蛋白。它优先结合称为 PUR 的富含嘌呤元素的单链,PUR 存在于从酵母到人类的各种真核生物的复制起点和基因侧翼区域。因此,它与 DNA 复制和转录的控制有关。该基因的缺失与骨髓增生异常综合征和急性骨髓性白血病有关。[RefSeq 提供,2008 年 7 月]

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

PURA 基因产物(1)

mRNA Protein Name
NM_005859.5 NP_005850.1 transcriptional activator protein Pur-alpha
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 double-stranded telomeric DNA binding IDA
IDA: 通过直接分析推断
15777841 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7592647 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA unwinding involved in DNA replication IDA
IDA: 通过直接分析推断
15777841 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
26089202 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
9716182 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

PURA 蛋白结构

PurA

PurA: PurA ssDNA and RNA-binding protein (58 - 278)

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

transcriptional activator protein Pur-alpha

purine-rich single-stranded DNA-binding protein alpha

PURA 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
PURA Q00577 RB1 Homo sapiens P06400
Pull Down
7592647
种属内
PURA Q00577 RB1 Homo sapiens P06400
Anti Bait CoIP
7592647
种属间
PURA Q00577 lt_sv40 Simian virus 40 P03070
Pull Down
9830007
种属间
PURA Q00577 lt_sv40 Simian virus 40 P03070
Pull Down
7592647
种属间
PURA Q00577 lt_povjc JC polyomavirus P03072
Pull Down
9830007
种属间
PURA Q00577 lt_povjc JC polyomavirus P03072
CoIP
9830007
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 Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties

NEDRIHF

Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation

Mental Retardation, Autosomal Dominant 31, Formerly

Mrd31, Formerly

Mrd31

Pura-Related Neurodevelopmental Disorders

Pura Syndrome

Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome

Pura-Related Neurodevelopmental Disorder

5q31.3 Microdeletion Syndrome

Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5q31.3 Microdeletion

Del(5)(Q31.3)

Monosomy 5q31.3

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

X-Linked Hereditary Ataxia
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Fragile X Tremor/Ataxia Syndrome

FXTAS

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Hypotonia
Premature Ovarian Failure 1

Ovarian Failure, Premature

Fmr1-Related Primary Ovarian Insufficiency

Fragile X-Associated Primary Ovarian Insufficiency

POF1

Pofx

Hypergonadotropic Ovarian Failure, X-Linked

Pof

Primary Ovarian Insufficiency, Fragile X-Associated

Primary Ovarian Insufficiency 1

Ovarian Failure Premature

Premature Ovarian Failure, X-Linked

Fragile X Premature Ovarian Failure

Fmr1-Related Premature Ovarian Failure

Familial Premature Ovarian Failure

Idiopathic Familial Premature Ovarian Failure

Fxpoi

X-Linked Hypergonadotropic Ovarian Failure

Hypergonadotropic Ovarian Failure X-Linked

Poi

Premature Ovarian Failure X-Linked

Primary Ovarian Insufficiency

Premature Ovarian Failure-1

Ovarian Failure, Premature, Type 1

Premature Ovarian Failure, Familial

Premature Menopause

Primary Hypogonadism

Turner Syndrome

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Progressive Multifocal Leukoencephalopathy

Pml

Leukoencephalopathy, Progressive Multifocal

Progressive Multifocal Leukoencephalitis

Leukoencephalopathy Progressive Multifocal

Pml - [Progressive Multifocal Leukoencephalopathy]

Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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 PURA RGD RGD:1308543
Mus musculus PURA MGD MGI:103079
Bos taurus PURA VGNC VGNC:33572