• Gene id: 8882

Gene Summary

• Gene Symbol: ZPR1   Gene   UCSC   Ensembl
• Aliases: ZNF259
• Gene name: ZPR1 zinc finger
• Alternate names: zinc finger protein ZPR1, zinc finger protein 259,
• Gene location: 11q23.3 (116789271: 116773798)     Exons: 14     NC_000011.10
• Gene summary(Entrez): 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 neur
• OMIM: 603901

Protein Summary

• Protein general information: O75312  
  • Name: Zinc finger protein ZPR1 (Zinc finger protein 259)
  • Length: 459  
  • Mass: 50925
  • Tissue specificity: Expressed in fibroblast; weakly expressed in fibroblast of spinal muscular atrophy (SMA) patients. {ECO
• Sequence:

  MAASGAVEPGPPGAAVAPSPAPAPPPAPDHLFRPISAEDEEQQPTEIESLCMNCYCNGMTRLLLTKIPFFREIIV
  SSFSCEHCGWNNTEIQSAGRIQDQGVRYTLSVRALEDMNREVVKTDSAATRIPELDFEIPAFSQKGALTTVEGLI
  TRAISGLEQDQPARRANKDATAERIDEFIVKLKELKQVASPFTLIIDDPSGNSFVENPHAPQKDDALVITHYNRT
  RQQEEMLGLQEEAPAEKPEEEDLRNEVLQFSTNCPECNAPAQTNMKLVQIPHFKEVIIMATNCENCGHRTNEVKS
  GGAVEPLGTRITLHITDASDMTRDLLKSETCSVEIPELEFELGMAVLGGKFTTLEGLLKDIRELVTKNPFTLGDS
  SNPGQTERLQEFSQKMDQIIEGNMKAHFIMDDPAGNSYLQNVYAPEDDPEMKVERYKRTFDQNEELGLNDMKTEG
  YEAGLAPQR

• Structural information:
  • Interpro: IPR004457  IPR040141  IPR042451  IPR042452  
  • STRING: ENSP00000227322
• Other Databases: GeneCards:  ZPR1  Malacards:  ZPR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0061564	axon development	IBA	biological process
GO:0042307	positive regulation of protein import into nucleus	IBA	biological process
GO:0031369	translation initiation factor binding	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0010628	positive regulation of gene expression	IBA	biological process
GO:0030576	Cajal body organization	IBA	biological process
GO:0015030	Cajal body	IBA	cellular component
GO:0008283	cell population proliferation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:2000672	negative regulation of motor neuron apoptotic process	IEA	biological process
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0045927	positive regulation of growth	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042023	DNA endoreduplication	IEA	biological process
GO:0031641	regulation of myelination	IEA	biological process
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0030576	Cajal body organization	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001834	trophectodermal cell proliferation	IEA	biological process
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:1902742	apoptotic process involved in development	IEA	biological process
GO:0061564	axon development	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0031369	translation initiation factor binding	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0021510	spinal cord development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0042307	positive regulation of protein import into nucleus	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0071364	cellular response to epidermal growth factor stimulus	IDA	biological process
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1990261	pre-mRNA catabolic process	IMP	biological process
GO:1902742	apoptotic process involved in development	ISS	biological process
GO:0071931	positive regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:0061564	axon development	IMP	biological process
GO:0061564	axon development	ISS	biological process
GO:0033120	positive regulation of RNA splicing	IMP	biological process
GO:0031369	translation initiation factor binding	IPI	molecular function
GO:0030424	axon	ISS	cellular component
GO:0021510	spinal cord development	ISS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:2000672	negative regulation of motor neuron apoptotic process	ISS	biological process
GO:0045927	positive regulation of growth	ISS	biological process
GO:0043204	perikaryon	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0042023	DNA endoreduplication	ISS	biological process
GO:0031641	regulation of myelination	ISS	biological process
GO:0030576	Cajal body organization	IMP	biological process
GO:0030576	Cajal body organization	ISS	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001834	trophectodermal cell proliferation	ISS	biological process
GO:0000226	microtubule cytoskeleton organization	ISS	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R