ZPR1 Gene (Protein Coding)

ZPR1 Zinc Finger

GC11M116777
GIFtS:
36
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 transcri... See more...

Aliases for ZPR1 Gene

Aliases for ZPR1 Gene

  • ZPR1 Zinc Finger 2 3 5
  • Zinc Finger Protein 259 2 3 4
  • Zinc Finger Protein ZPR1 3 4
  • ZNF259 3 4
  • ZPR1 5

External Ids for ZPR1 Gene

Previous HGNC Symbols for ZPR1 Gene

  • ZNF259

Previous GeneCards Identifiers for ZPR1 Gene

  • GC11M116649

Summaries for ZPR1 Gene

Entrez Gene Summary 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 Spinal Muscular Atrophy and 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 Summary 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.

Gene Wiki entry for ZPR1 Gene

Additional gene information for ZPR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZPR1 Gene

Genomics for ZPR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZPR1

Genomic Locations for ZPR1 Gene

Latest Assembly
chr11:116,773,799-116,789,272
(GRCh38/hg38)
Size:
15,474 bases
Orientation:
Minus strand

Previous Assembly
chr11:116,644,515-116,658,739
(GRCh37/hg19 by Entrez Gene)
Size:
14,225 bases
Orientation:
Minus strand

chr11:116,648,436-116,658,766
(GRCh37/hg19 by Ensembl)
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:
ZPR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZPR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ZPR1 Gene

Proteins for ZPR1 Gene

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  • Protein details for ZPR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75312-ZPR1_HUMAN
    Recommended name:
    Zinc finger protein ZPR1
    Protein Accession:
    O75312
    Secondary Accessions:
    • 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.

neXtProt entry for ZPR1 Gene

Protein Expression for ZPR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ZPR1 Gene

  • Ubiquitination at Lys66, Lys119, and Lys299
  • Modification sites at PhosphoSitePlus

Other Protein References for ZPR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Zn-finger, ZPR1 type

Suggested Antigen Peptide Sequences for ZPR1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 259 (ZPR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75312

UniProtKB/Swiss-Prot:

ZPR1_HUMAN :
  • Belongs to the ZPR1 family.
Family:
  • Belongs to the ZPR1 family.
genes like me logo Genes that share domains with ZPR1: view

Function for ZPR1 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with ZPR1: view
genes like me logo Genes that share phenotypes with ZPR1: view

Animal Models for ZPR1 Gene

MGI Knock Outs for ZPR1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZPR1

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZPR1 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 9852145
GO:0005654 nucleoplasm IDA 17068332
GO:0005730 nucleolus IEA,IDA 9763455
GO:0005737 cytoplasm IBA,IDA 9763455
GO:0015030 Cajal body IBA,IDA 11283611
genes like me logo Genes that share ontologies with ZPR1: view

Pathways & Interactions for ZPR1 Gene

PathCards logo

SuperPathways for ZPR1 Gene

SuperPathway Contained pathways
1 Translational Control
Translational Control
-
genes like me logo Genes that share pathways with ZPR1: view

Pathways by source for ZPR1 Gene

1 Cell Signaling Technology pathway for ZPR1 Gene

Gene Ontology (GO) - Biological Process for ZPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA,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
genes like me logo Genes that share ontologies with ZPR1: view

No data available for SIGNOR curated interactions for ZPR1 Gene

Drugs & Compounds for ZPR1 Gene

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(1) Drugs for ZPR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZPR1: view

Transcripts for ZPR1 Gene

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mRNA/cDNA for ZPR1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZPR1

Alternative Splicing Database (ASD) splice patterns (SP) for ZPR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2: -
SP3:

Relevant External Links for ZPR1 Gene

GeneLoc Exon Structure for
ZPR1

Expression for ZPR1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZPR1 Gene

mRNA expression in normal human tissues for ZPR1 Gene
mRNA expression by BioGPS for ZPR1 GenemRNA expression by GTEx for ZPR1 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for ZPR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZPR1

mRNA 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(4.6)
  • Skin(4.4)
  • Pancreas(4.3)
  • Eye(3.2)
  • Liver(2.2)
  • Heart(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ZPR1: view

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.

Orthologs for ZPR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ZNF259 29 30
  • 99.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ZNF259 29 30
  • 89.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ZNF259 29 30
  • 88.89 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Zfp259 29 30
  • 87.15 (n)
 OneToOne
Zpr1 16
Rat
(Rattus norvegicus)
 Mammalia Zfp259 29
  • 86.93 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 84 (a)
 OneToMany
-- 30
  • 81 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia ZNF259 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ZNF259 29 30
  • 73.66 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ZNF259 30
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia znf259 29
  • 69.98 (n)
Str.4088 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6633 29
Zebrafish
(Danio rerio)
 Actinopterygii znf259 30
  • 70 (a)
 OneToOne
zpr1 29
  • 68.01 (n)
wufc17g09 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Zpr1 29 30
  • 56.56 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004417 29
  • 55.85 (n)
Worm
(Caenorhabditis elegans)
 Secernentea CELE_W03F9.1 29
  • 50.36 (n)
W03F9.1 30
  • 40 (a)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACL137C 29
  • 53.95 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ZPR1 29 30 32
  • 53.38 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E16215g 29
  • 51.29 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G22480 29
  • 53.1 (n)
Rice
(Oryza sativa)
 Liliopsida Os08g0471900 29
  • 52.04 (n)
Os.27108 29
Corn
(Zea mays)
 Liliopsida Zm.4971 29
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08507 29
  • 53.63 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes zpr1 29
  • 50.12 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5185 30
  • 50 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.639 29
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
Alliance of Genome Resources:
Additional Orthologs for ZPR1

Paralogs for ZPR1 Gene

Pseudogenes.org Pseudogenes for ZPR1 Gene

genes like me logo Genes that share paralogs with ZPR1: view

No data available for Paralogs for ZPR1 Gene

Variants for ZPR1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZPR1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs144966144 Benign: not provided 116,779,049(-) G/A
NM_003904.5(ZPR1):c.1256C>T (p.Ala419Val) 		MISSENSE
rs35120633 -- p.Ala264Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZPR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ZPR1 Gene

Variant ID Type Subtype PubMed ID
nsv1047727 CNV loss 25217958
nsv507 CNV deletion 18451855

Variation tolerance for ZPR1 Gene

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

Human Gene Mutation Database (HGMD)
ZPR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZPR1
Leiden Open Variation Database (LOVD)
ZPR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZPR1 Gene

Disorders for ZPR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZPR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
spinal muscular atrophy
  • sma
muscular atrophy
  • amyotrophia
fundus dystrophy
  • retinal dystrophy
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search ZPR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZPR1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZPR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZPR1 Gene

Publications for ZPR1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

ExternalLinks

View latest publications for ZPR1 gene in Mastermind

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