PURA - purine rich element binding protein A Gene

Homo sapiens

Also known as PUR1; MRD31; NEDRIHF; PURALPHA; PUR-ALPHA

Gene ID: 5813 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_005859.5	NP_005850.1	transcriptional activator protein Pur-alpha

PURA Protein Structure

PurA

0
100
200
300
322 a.a.

Protein Preferred Names

Protein Names

transcriptional activator protein Pur-alpha

purine-rich single-stranded DNA-binding protein alpha

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N10267	Carviolin		/	Unkown
HY-RS11464	PURA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PURA	RGD	RGD:1308543
Mus musculus	PURA	MGD	MGI:103079
Bos taurus	PURA	VGNC	VGNC:33572

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