Human Gene ZPR1 (uc001ppp.3)
  Description: Homo sapiens zinc finger protein 259 (ZPR1), mRNA.
RefSeq Summary (NM_003904): The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015].
Transcript (Including UTRs)
   Position: hg19 chr11:116,649,276-116,658,739 Size: 9,464 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr11:116,649,641-116,658,706 Size: 9,066 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:116,649,276-116,658,739)mRNA (may differ from genome)Protein (459 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZPR1_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein ZPR1; AltName: Full=Zinc finger protein 259;
FUNCTION: May be a signaling molecule that communicates mitogenic signals from the cytoplasm to the nucleus.
SUBUNIT: Binds to the EGF and PDGF receptors. Binds to the elongation factor 1-alpha EF1A (By similarity). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Translocates to the nucleolus after treatment with mitogens.
SIMILARITY: Belongs to the ZPR1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZPR1
Diseases sorted by gene-association score: muscular atrophy (15), spinal muscular atrophy (14), survival motor neuron spinal muscular atrophy (6), spinal muscular atrophy-1 (5)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.96 RPKM in Testis
Total median expression: 587.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.2033-0.188 Picture PostScript Text
3' UTR -114.32365-0.313 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004457 - Znf_ZPR1

Pfam Domains:
PF03367 - ZPR1 zinc-finger domain

ModBase Predicted Comparative 3D Structure on O75312
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0030971 receptor tyrosine kinase binding
GO:0031369 translation initiation factor binding
GO:0046872 metal ion binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0001833 inner cell mass cell proliferation
GO:0001834 trophectodermal cell proliferation
GO:0006397 mRNA processing
GO:0007165 signal transduction
GO:0008283 cell proliferation
GO:0008380 RNA splicing
GO:0010628 positive regulation of gene expression
GO:0021510 spinal cord development
GO:0030154 cell differentiation
GO:0030576 Cajal body organization
GO:0031641 regulation of myelination
GO:0033120 positive regulation of RNA splicing
GO:0042023 DNA endoreduplication
GO:0042307 positive regulation of protein import into nucleus
GO:0045927 positive regulation of growth
GO:0061564 axon development
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0071931 positive regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:1902742 apoptotic process involved in development
GO:1990261 pre-mRNA catabolic process
GO:2000672 negative regulation of motor neuron apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0015030 Cajal body
GO:0030424 axon
GO:0030426 growth cone
GO:0032797 SMN complex
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0048471 perinuclear region of cytoplasm
GO:0097504 Gemini of coiled bodies


-  Descriptions from all associated GenBank mRNAs
  LF208471 - JP 2014500723-A/15974: Polycomb-Associated Non-Coding RNAs.
BC004256 - Homo sapiens zinc finger protein 259, mRNA (cDNA clone MGC:10654 IMAGE:3610932), complete cds.
BC011929 - Homo sapiens cDNA clone IMAGE:4545123, containing frame-shift errors.
BC012162 - Homo sapiens zinc finger protein 259, mRNA (cDNA clone MGC:20397 IMAGE:4578136), complete cds.
BC017380 - Homo sapiens zinc finger protein 259, mRNA (cDNA clone MGC:1943 IMAGE:2988688), complete cds.
AF019767 - Homo sapiens zinc finger protein (ZPR1) mRNA, complete cds.
BC111028 - Homo sapiens zinc finger protein 259, mRNA (cDNA clone MGC:110983 IMAGE:5245870), complete cds.
BC017349 - Homo sapiens zinc finger protein 259, mRNA (cDNA clone MGC:29702 IMAGE:5013820), complete cds.
AK301227 - Homo sapiens cDNA FLJ60173 complete cds, highly similar to Zinc-finger protein ZPR1.
BT006642 - Homo sapiens zinc finger protein 259 mRNA, complete cds.
MA444048 - JP 2018138019-A/15974: Polycomb-Associated Non-Coding RNAs.
LF376615 - JP 2014500723-A/184118: Polycomb-Associated Non-Coding RNAs.
JD288303 - Sequence 269327 from Patent EP1572962.
JD245025 - Sequence 226049 from Patent EP1572962.
JD362793 - Sequence 343817 from Patent EP1572962.
JD180466 - Sequence 161490 from Patent EP1572962.
LF376613 - JP 2014500723-A/184116: Polycomb-Associated Non-Coding RNAs.
JD319215 - Sequence 300239 from Patent EP1572962.
JD364787 - Sequence 345811 from Patent EP1572962.
JD343752 - Sequence 324776 from Patent EP1572962.
JD511971 - Sequence 492995 from Patent EP1572962.
JD343751 - Sequence 324775 from Patent EP1572962.
JD022967 - Sequence 3991 from Patent EP1572962.
JD034076 - Sequence 15100 from Patent EP1572962.
MA612192 - JP 2018138019-A/184118: Polycomb-Associated Non-Coding RNAs.
MA612190 - JP 2018138019-A/184116: Polycomb-Associated Non-Coding RNAs.
CU678646 - Synthetic construct Homo sapiens gateway clone IMAGE:100019497 5' read ZNF259 mRNA.
LF376608 - JP 2014500723-A/184111: Polycomb-Associated Non-Coding RNAs.
LF376602 - JP 2014500723-A/184105: Polycomb-Associated Non-Coding RNAs.
MA612185 - JP 2018138019-A/184111: Polycomb-Associated Non-Coding RNAs.
MA612179 - JP 2018138019-A/184105: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_003904, NP_003895, O75312, Q2TAA0, ZNF259, ZPR1_HUMAN
UCSC ID: uc001ppp.3
RefSeq Accession: NM_003904
Protein: O75312 (aka ZPR1_HUMAN)
CCDS: CCDS8375.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003904.3
exon count: 14CDS single in 3' UTR: no RNA size: 1810
ORF size: 1380CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2624.00frame shift in genome: no % Coverage: 98.23
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.