PRUNE1 - prune exopolyphosphatase 1 Gene

Also Known as PRUNE; DRES17; HTCD37; NMIHBA; DRES-17; H-PRUNE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 58497

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatase activity	IDA IDA: Inferred from direct assay	28334956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10602478	GOA
enables tubulin binding	IDA IDA: Inferred from direct assay	28334956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of microtubule polymerization	IMP IMP: Inferred from mutant phenotype	28334956	GOA
involved in regulation of neurogenesis	IMP IMP: Inferred from mutant phenotype	28334956	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

PRUNE1 Protein Structure

DHH

DHHA2

0
100
200
300
400
453 a.a.

Protein Preferred Names	Protein Names
exopolyphosphatase PRUNE1	Drosophila-related expressed sequence 17

PRUNE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRUNE1	Q86TP1	NME1	Homo sapiens	P15531	Y2H	10602478

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11263	PRUNE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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