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PRUNE1 prune exopolyphosphatase 1 [ Homo sapiens (human) ]

Gene ID: 58497, updated on 8-Oct-2018

Summary

Official Symbol
PRUNE1provided by HGNC
Official Full Name
prune exopolyphosphatase 1provided by HGNC
Primary source
HGNC:HGNC:13420
See related
Ensembl:ENSG00000143363 MIM:617413; Vega:OTTHUMG00000035062
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRUNE; DRES17; HTCD37; NMIHBA; DRES-17; H-PRUNE
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]
Expression
Ubiquitous expression in thyroid (RPKM 21.1), heart (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See PRUNE1 in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (151008391..151035713)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150980867..151008189)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene annexin A9 Neighboring gene MINDY lysine 48 deubiquitinase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene Neighboring gene BCL2 interacting protein like Neighboring gene chromosome 1 open reading frame 56

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
MedGen: C4479566 OMIM: 617481 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
exopolyphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inorganic diphosphatase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
polyphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
exopolyphosphatase PRUNE1
Names
Drosophila-related expressed sequence 17
protein prune homolog
protein prune homolog 1
NP_001290158.1
NP_001290171.1
NP_001290172.1
NP_067045.1
XP_005245450.1
XP_011508134.1
XP_016857444.1
XP_016857445.1
XP_016857446.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052875.1 RefSeqGene

    Range
    5001..32323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303229.1NP_001290158.1  exopolyphosphatase PRUNE1 isoform 2

    See identical proteins and their annotated locations for NP_001290158.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks one alternate internal exon resulting in a distinct 5' UTR and the use of an in-frame downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK027875, BC014886, BC025304, DA719664
    Consensus CDS
    CCDS76211.1
    UniProtKB/Swiss-Prot
    Q86TP1
    Related
    ENSP00000357932.1, OTTHUMP00000033022, ENST00000368936.5, OTTHUMT00000084887
    Conserved Domains (1) summary
    pfam02833
    Location:36175
    DHHA2; DHHA2 domain
  2. NM_001303242.1NP_001290171.1  exopolyphosphatase PRUNE1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    AF123538, AK027875, BC025304, BM554427, DA719664
    UniProtKB/Swiss-Prot
    Q86TP1
    Conserved Domains (3) summary
    COG1227
    Location:21265
    PPX1; Inorganic pyrophosphatase/exopolyphosphatase [Energy production and conversion, Inorganic ion transport and metabolism]
    pfam01368
    Location:100172
    DHH; DHH family
    pfam02833
    Location:218304
    DHHA2; DHHA2 domain
  3. NM_001303243.1NP_001290172.1  exopolyphosphatase PRUNE1 isoform 4

    See identical proteins and their annotated locations for NP_001290172.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons in the 5' coding region resulting in a distinct 5' UTR and the use of an alternate downstream start codon, compared to variant 1. The resulting protein (isoform 4) has a distinct N-terminus and is shorter compared to isoform 1.
    Source sequence(s)
    AK027875, BC025304, DA719664
    UniProtKB/Swiss-Prot
    Q86TP1
    Conserved Domains (1) summary
    pfam02833
    Location:27157
    DHHA2; DHHA2 domain
  4. NM_021222.2NP_067045.1  exopolyphosphatase PRUNE1 isoform 1

    See identical proteins and their annotated locations for NP_067045.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK027875, BC025304, DA719664
    Consensus CDS
    CCDS977.1
    UniProtKB/Swiss-Prot
    Q86TP1
    Related
    ENSP00000271620.3, OTTHUMP00000033020, ENST00000271620.7, OTTHUMT00000084885
    Conserved Domains (3) summary
    COG1227
    Location:21361
    PPX1; Inorganic pyrophosphatase/exopolyphosphatase [Energy production and conversion, Inorganic ion transport and metabolism]
    pfam01368
    Location:100172
    DHH; DHH family
    pfam02833
    Location:218357
    DHHA2; DHHA2 domain

RNA

  1. NR_130130.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AF123538, AK027875, BC025304, DA719664
  2. NR_130131.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks several alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK027875, AK294154, BC025304, DA719664
  3. NR_130132.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks several alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK027875, BC025304, BC063481, DA719664
    Related
    ENST00000368935.1, OTTHUMT00000084889
  4. NR_130135.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks several alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK027875, BC014886, BC025304, DA719664, DA942287

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    151008391..151035713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001956.1XP_016857445.1  exopolyphosphatase PRUNE1 isoform X3

    UniProtKB/Swiss-Prot
    Q86TP1
    Related
    ENSP00000357933.1, OTTHUMP00000033021, ENST00000368937.5, OTTHUMT00000084886
    Conserved Domains (1) summary
    pfam02833
    Location:36175
    DHHA2; DHHA2 domain
  2. XM_011509832.2XP_011508134.1  exopolyphosphatase PRUNE1 isoform X3

    See identical proteins and their annotated locations for XP_011508134.1

    UniProtKB/Swiss-Prot
    Q86TP1
    Related
    ENSP00000357930.1, OTTHUMP00000033023, ENST00000368934.1, OTTHUMT00000084888
    Conserved Domains (1) summary
    pfam02833
    Location:36175
    DHHA2; DHHA2 domain
  3. XM_017001957.1XP_016857446.1  exopolyphosphatase PRUNE1 isoform X4

    Conserved Domains (1) summary
    pfam02833
    Location:27157
    DHHA2; DHHA2 domain
  4. XM_005245393.5XP_005245450.1  exopolyphosphatase PRUNE1 isoform X1

    Related
    ENSP00000497847.1, ENST00000650332.1
    Conserved Domains (3) summary
    COG1227
    Location:21331
    PPX1; Inorganic pyrophosphatase/exopolyphosphatase [Energy production and conversion, Inorganic ion transport and metabolism]
    pfam01368
    Location:20142
    DHH; DHH family
    pfam02833
    Location:188327
    DHHA2; DHHA2 domain
  5. XM_017001955.2XP_016857444.1  exopolyphosphatase PRUNE1 isoform X2

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