PRUNE1 - prune exopolyphosphatase 1 Gene

Homo sapiens

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

Gene ID: 58497 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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