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ZPR1 ZPR1 zinc finger [ Homo sapiens (human) ]

Gene ID: 8882, updated on 19-Sep-2021

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
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
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Genomic context

See ZPR1 in Genome Data Viewer
Location:
11q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (116773799..116789272, complement)
105.20201022 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 long intergenic non-protein coding RNA 2702 Neighboring gene VISTA enhancer hs1632 Neighboring gene BUD13 homolog Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene apolipoprotein A5 Neighboring gene apolipoprotein A4

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
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
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.
GeneReviews: Not available
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
GeneReviews: Not available
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association study identifies common variants associated with circulating vitamin E levels.
GeneReviews: Not available
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
GeneReviews: Not available
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
GeneReviews: Not available
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
GeneReviews: Not available
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.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
MedGen: CN296673 OMIM: 619321 GeneReviews: Not available
not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC110983

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in Cajal body organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
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
PubMed 
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 cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in positive regulation of protein import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription involved in G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pre-mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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)

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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/Swiss-Prot
    O75312
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    116773799..116789272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001748023.2 RNA Sequence

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