Aliases for ZPR1 Gene
Aliases for ZPR1 Gene
External Ids for ZPR1 Gene
- HGNC: 13051
- Entrez Gene: 8882
- Ensembl: ENSG00000109917
- OMIM: 603901
- UniProtKB: O75312
Previous HGNC Symbols for ZPR1 Gene
- ZNF259
Previous GeneCards Identifiers for ZPR1 Gene
- GC11M116649
Summaries for ZPR1 Gene
-
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]
GeneCards Summary for ZPR1 Gene
ZPR1 (ZPR1 Zinc Finger) is a Protein Coding gene. Diseases associated with ZPR1 include Muscular Atrophy and Spinal Muscular Atrophy. Among its related pathways are Translational Control. Gene Ontology (GO) annotations related to this gene include receptor tyrosine kinase binding and translation initiation factor binding.
UniProtKB/Swiss-Prot for ZPR1 Gene
-
Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death.
Additional gene information for ZPR1 Gene
- Monarch Initiative
- Search for ZPR1 at DataMed
- Search for ZPR1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZPR1 Gene
Genomics for ZPR1 Gene
GeneHancer (GH) Regulatory Elements for ZPR1 Gene
Promoters and enhancers for ZPR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ZPR1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ZPR1 Gene
Genomic Locations for ZPR1 Gene
- chr11:116,773,799-116,788,050
- (GRCh38/hg38)
- Size:
- 14,252 bases
- Orientation:
- Minus strand
- chr11:116,648,436-116,658,766
- (GRCh37/hg19)
- Size:
- 10,331 bases
- Orientation:
- Minus strand
Genomic View for ZPR1 Gene
Genes around ZPR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
- 11q23.3 by Ensembl
ZPR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ZPR1 Gene
Proteins for ZPR1 Gene
-
Protein details for ZPR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75312-ZPR1_HUMAN
- Recommended name:
- Zinc finger protein ZPR1
- Protein Accession:
- O75312
- Q2TAA0
Protein attributes for ZPR1 Gene
- Size:
- 459 amino acids
- Molecular mass:
- 50925 Da
- Quaternary structure:
-
- Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Interacts (via C-terminal region) with SMN1 (via C-terminal region); the interaction occurs after treatment with serum. Interacts with elongation factor 1-alpha EEF1A1; the interaction occurs in a epidermal growth factor (EGF)-dependent manner. Interacts (via zinc fingers) with EGFR (via C-terminal cytoplasmic kinase domain); the interaction is negatively regulated in response to epidermal growth factor (EGF) stimulation and the EGFR kinase activity. May also bind to the PDGFR receptor.
Protein Expression for ZPR1 Gene
Post-translational modifications for ZPR1 Gene
Other Protein References for ZPR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Assay Products
No data available for DME Specific Peptides for ZPR1 Gene
Domains & Families for ZPR1 Gene
Gene Families for ZPR1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ZPR1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZPR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75312- Family:
-
- Belongs to the ZPR1 family.
Function for ZPR1 Gene
Molecular function for ZPR1 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death.
Phenotypes From GWAS Catalog for ZPR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11283611 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0030971 | receptor tyrosine kinase binding | IEA | -- |
| GO:0031369 | translation initiation factor binding | IEA,IPI | 9852145 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZPR1 Gene
- MGI mutant phenotypes for ZPR1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ZPR1:
Animal Models for ZPR1 Gene
- MGI Knock Outs for ZPR1:
-
- Zpr1 Zpr1<tm1Rjd>
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-
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miRNA for ZPR1 Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZPR1
- genomics-online: cdna clones - Search results for available znf259 gene related products
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZPR1 Gene
Localization for ZPR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZPR1 Gene
- Nucleus. Nucleus, nucleolus. Nucleus, gem. Nucleus, Cajal body. Cytoplasm, perinuclear region. Cytoplasm. Cell projection, axon. Cell projection, growth cone. Note=Colocalized with SMN1 in Gemini of coiled bodies (gems), Cajal bodies, axon and growth cones of neurons (By similarity). Localized predominantly in the cytoplasm in serum-starved cells growth arrested in G0 of the mitotic cell cycle. Localized both in the nucleus and cytoplasm at the G1 phase of the mitotic cell cycle. Accumulates in the subnuclear bodies during progression into the S phase of the mitotic cell cycle. Diffusely localized throughout the cell during mitosis. Colocalized with NPAT and SMN1 in nuclear bodies including gems (Gemini of coiled bodies) and Cajal bodies in a cell cycle-dependent manner. Translocates together with EEF1A1 from the cytoplasm to the nucleolus after treatment with mitogens. Colocalized with EGFR in the cytoplasm of quiescent cells. Translocates from the cytoplasm to the nucleus in a epidermal growth factor (EGF)-dependent manner. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,TAS | 9852145 |
| GO:0005654 | nucleoplasm | IDA | 17068332 |
| GO:0005730 | nucleolus | TAS,IDA | 9852145 |
| GO:0005737 | cytoplasm | IDA,TAS | 9852145 |
| GO:0015030 | Cajal body | IDA,IEA | 11283611 |
Pathways & Interactions for ZPR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translational Control | ||
Pathways by source for ZPR1 Gene
1 Cell Signaling Technology pathway for ZPR1 Gene
Interacting Proteins for ZPR1 Gene
GPS-Prot Interaction Network for ZPR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000226 | microtubule cytoskeleton organization | ISS | -- |
| GO:0001833 | inner cell mass cell proliferation | IEA | -- |
| GO:0001834 | trophectodermal cell proliferation | IEA,ISS | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0007165 | signal transduction | TAS | 8650580 |
No data available for SIGNOR curated interactions for ZPR1 Gene
Transcripts for ZPR1 Gene
mRNA/cDNA for ZPR1 Gene
- (2) REFSEQ mRNAs :
- (288) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000227322 6566 bps (uc001ppp.4)
- ENST00000366405 598 bps (uc058hqk.1)
- ENST00000429220 2364 bps (uc058hql.1)
- ENST00000444935 2497 bps (uc058hqm.1)
- ENST00000449430 691 bps (uc058hqn.1)
CRISPR Products
-
OriGene CRISPR knockouts for ZPR1
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- genomics-online: gRNA clones - Search results for available znf259 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZPR1
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for ZPR1
- VectorBuilder custom plasmid, inducible vectors for ZPR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZPR1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZPR1
- genomics-online: cdna clones - Search results for available znf259 gene related products
- orf clones - Search results for available znf259 gene related products
- Applied Biological Materials Clones for ZPR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: |
Expression for ZPR1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (12.1) and Lymph node (11.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZPR1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ZPR1 Gene:
ZPR1mRNA Expression by UniProt/SwissProt for ZPR1 Gene:
O75312-ZPR1_HUMAN
Tissue specificity:
Expressed in fibroblast; weakly expressed in fibroblast of spinal muscular atrophy (SMA) patients.
Evidence on tissue expression from TISSUES for ZPR1 Gene
- Nervous system(4.5)
- Pancreas(4.2)
- Skin(4.2)
- Eye(2.5)
Primer Products
-
OriGene qPCR primer pairs and template standards for ZPR1
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OriGene qPCR primer pairs for ZPR1
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Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZPR1 Gene
Orthologs for ZPR1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZNF259 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ZNF259 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ZNF259 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Zfp259 34 33 |
|
OneToOne | |
| Zpr1 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Zfp259 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZNF259 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZNF259 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ZNF259 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | znf259 33 |
|
||
| Str.4088 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6633 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | znf259 34 |
|
OneToOne | |
| zpr1 33 |
|
||||
| wufc17g09 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Zpr1 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004417 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_W03F9.1 33 |
|
||
| W03F9.1 34 |
|
OneToOne | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACL137C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ZPR1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E16215g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G22480 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0471900 33 |
|
||
| Os.27108 33 |
|
||||
| corn (Zea mays) |
Liliopsida | Zm.4971 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08507 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | zpr1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5185 34 |
|
OneToOne | |
| Cin.639 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.639 33 |
|
- Species where no ortholog for ZPR1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ZPR1 Gene
- ENSEMBL:
- Gene Tree for ZPR1 (if available)
- TreeFam:
- Gene Tree for ZPR1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ZPR1: view image
Paralogs for ZPR1 Gene
Pseudogenes.org Pseudogenes for ZPR1 Gene
No data available for Paralogs for ZPR1 Gene
Variants for ZPR1 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121917821 | pathogenic, Familial type 5 hyperlipoproteinemia | 116,790,814(-) | G/A | upstream_transcript_variant | |
| rs2075291 | risk-factor, Hypertriglyceridemia, susceptibility to | 116,790,676(-) | C/A/T | upstream_transcript_variant | |
| rs2266788 | risk-factor, Hypertriglyceridemia, susceptibility to | 116,789,970(-) | G/A | upstream_transcript_variant | |
| rs201079485 | pathogenic, not provided | 116,790,940(-) | G/A/T | upstream_transcript_variant | |
| rs147528707 | likely-pathogenic, not provided | 116,790,292(-) | G/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1047727 | CNV | loss | 25217958 |
| nsv507 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.36;
63.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZPR1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZPR1 Gene
Disorders for ZPR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular atrophy |
|
|
| spinal muscular atrophy |
|
|
Search ZPR1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ZPR1
No data available for UniProtKB/Swiss-Prot and Genatlas for ZPR1 Gene
Publications for ZPR1 Gene
- The cytoplasmic zinc finger protein ZPR1 accumulates in the nucleolus of proliferating cells. (PMID: 9763455) Galcheva-Gargova Z … Davis RJ (Molecular biology of the cell 1998) 2 3 4 22 58
- Binding of zinc finger protein ZPR1 to the epidermal growth factor receptor. (PMID: 8650580) Galcheva-Gargova Z … Davis RJ (Science (New York, N.Y.) 1996) 2 3 4 22 58
- The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. (PMID: 22422766) Ahmad S … Gangwani L (Human molecular genetics 2012) 2 3 4 58
- Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression. (PMID: 17068332) Gangwani L (The Journal of biological chemistry 2006) 3 4 22 58
- Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. (PMID: 11283611) Gangwani L … Davis RJ (Nature cell biology 2001) 3 4 22 58
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- Yeast expression
- antibodies-online: Search results for 80 available znf259 Antibodies ranked by validation data
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- GeneCopoeia miRNA 3'UTR Target clone products for ZPR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZPR1
- Boster Bio Antibodies for ZPR1
- Browse Boster Bio ELISA Kits
Sources for ZPR1 Gene
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