PURA - purine rich element binding protein A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5813

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables double-stranded telomeric DNA binding	IDA IDA: Inferred from direct assay	15777841	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7592647	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA unwinding involved in DNA replication	IDA IDA: Inferred from direct assay	15777841	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	26089202	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	9716182	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

PURA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PURA	Q00577	RB1	Homo sapiens	P06400	Pull Down	7592647
Intra	PURA	Q00577	RB1	Homo sapiens	P06400	Anti Bait CoIP	7592647
Cross	PURA	Q00577	lt_sv40	Simian virus 40	P03070	Pull Down	9830007
Cross	PURA	Q00577	lt_sv40	Simian virus 40	P03070	Pull Down	7592647
Cross	PURA	Q00577	lt_povjc	JC polyomavirus	P03072	Pull Down	9830007
Cross	PURA	Q00577	lt_povjc	JC polyomavirus	P03072	CoIP	9830007

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N10267	Carviolin		/	Unkown
HY-RS11464	PURA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N14807	Neobulgarone A	Inhibitor	/	Unkown
HY-N14808	Neobulgarone B	Inhibitor	/	Unkown
HY-N14809	Neobulgarone C	Inhibitor	/	Unkown
HY-N14810	Neobulgarone D	Inhibitor	/	Unkown
HY-N14812	Neobulgarone E	Inhibitor	/	Unkown
HY-N14814	Neobulgarone F	Inhibitor	/	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
Others	PURA	NCBI