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    ZPR1 ZPR1 zinc finger [ Homo sapiens (human) ]

    Gene ID: 8882, updated on 27-Nov-2024

    Summary

    Official Symbol
    ZPR1provided by HGNC
    Official Full Name
    ZPR1 zinc fingerprovided by HGNC
    Primary source
    HGNC:HGNC:13051
    See related
    Ensembl:ENSG00000109917 MIM:603901; AllianceGenome:HGNC:13051
    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
    GKAF; ZNF259
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 14.8), bone marrow (RPKM 9.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZPR1 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116773799..116788023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116788425..116802647, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116644515..116658739, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116511441-116512270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116512271-116513100 Neighboring gene long intergenic non-protein coding RNA 2702 Neighboring gene VISTA enhancer hs1632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:116558341-116558903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:116558904-116559465 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:116580386-116581272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3922 Neighboring gene BUD13 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5555 Neighboring gene BUD13 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3924 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:116658726-116658949 Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene apolipoprotein A5 Neighboring gene lncRNA regulator of hepatic lineages 1

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
    MedGen: C5543375 OMIM: 619321 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
    EBI GWAS Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants associated with circulating vitamin E levels.
    EBI GWAS Catalog
    Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    EBI GWAS Catalog
    Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    EBI GWAS Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC110983

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein folding chaperone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables translation initiation factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables translation initiation factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Cajal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Cajal body organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA endoreduplication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within_positive_effect DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process involved in development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axon development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to epidermal growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of motor neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pre-mRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in trophectodermal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in Cajal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Gemini of coiled bodies IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    zinc finger protein ZPR1
    Names
    zinc finger protein 259

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001317086.2NP_001304015.1  zinc finger protein ZPR1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AP006216, BC017349, CD359945, CD365951, CR975994
      UniProtKB/TrEMBL
      H7C0E5
      Related
      ENSP00000394495.1, ENST00000429220.5
      Conserved Domains (2) summary
      smart00709
      Location:203362
      Zpr1; Duplicated domain in the epidermal growth factor- and elongation factor-1alpha-binding protein Zpr1. Also present in archaeal proteins
      pfam03367
      Location:58152
      zf-ZPR1; ZPR1 zinc-finger domain
    2. NM_003904.5NP_003895.1  zinc finger protein ZPR1 isoform 1

      See identical proteins and their annotated locations for NP_003895.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP006216, BC017349, CD365951
      Consensus CDS
      CCDS8375.1
      UniProtKB/Swiss-Prot
      O75312, Q2TAA0
      UniProtKB/TrEMBL
      H7BZM7
      Related
      ENSP00000227322.3, ENST00000227322.8
      Conserved Domains (2) summary
      smart00709
      Location:257416
      Zpr1; Duplicated domain in the epidermal growth factor- and elongation factor-1alpha-binding protein Zpr1. Also present in archaeal proteins
      pfam03367
      Location:49206
      zf-ZPR1; ZPR1 zinc-finger domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      116773799..116788023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427804.1XP_047283760.1  zinc finger protein ZPR1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      116788425..116802647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370365.1XP_054226340.1  zinc finger protein ZPR1 isoform X1