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    ZNF473 zinc finger protein 473 [ Homo sapiens (human) ]

    Gene ID: 25888, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF473provided by HGNC
    Official Full Name
    zinc finger protein 473provided by HGNC
    Primary source
    HGNC:HGNC:23239
    See related
    Ensembl:ENSG00000142528 MIM:617908; AllianceGenome:HGNC:23239
    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
    ZN473; ZFP100
    Summary
    This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in testis (RPKM 14.8), spleen (RPKM 2.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF473 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50026005..50048776)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53026101..53048873)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50529262..50552033)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50474918-50475418 Neighboring gene sialic acid binding Ig like lectin 16 (gene/pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14970 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50490479-50490646 Neighboring gene VRK serine/threonine kinase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50497521-50498022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50498023-50498522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50527935-50528436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14973 Neighboring gene uncharacterized LOC124904744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50554133-50554813 Neighboring gene ZNF473 cis regulating lncRNA Neighboring gene zinc finger protein 420-like Neighboring gene small NF90 (ILF3) associated RNA A4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Recent Selection Changes in Human Genes under Long-Term Balancing Selection. de Filippo C, et al. Mol Biol Evol, 2016 Jun. PMID 26831942, Free PMC Article
    2. Integrative Analysis of Transcriptomic and Epigenomic Data to Reveal Regulation Patterns for BMD Variation. Zhang JG, et al. PLoS One, 2015. PMID 26390436, Free PMC Article
    3. A novel zinc finger protein is associated with U7 snRNP and interacts with the stem-loop binding protein in the histone pre-mRNP to stimulate 3'-end processing. Dominski Z, et al. Genes Dev, 2002 Jan 1. PMID 11782445, Free PMC Article
    4. Conserved zinc fingers mediate multiple functions of ZFP100, a U7snRNP associated protein. Wagner EJ, et al. RNA, 2006 Jul. PMID 16714279, Free PMC Article
    5. ZFP100, a component of the active U7 snRNP limiting for histone pre-mRNA processing, is required for entry into S phase. Wagner EJ, et al. Mol Cell Biol, 2006 Sep. PMID 16914750, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. ZFP100 is the limiting factor for histone pre-mRNA processing in vivo.
      Title: ZFP100, a component of the active U7 snRNP limiting for histone pre-mRNA processing, is required for entry into S phase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA 3'-end processing by stem-loop binding and cleavage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 473
    Names
    zinc finger protein 100 homolog

    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.

    Genomic

    1. NG_051198.1 RefSeqGene

      Range
      5200..27971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001006656.4 → NP_001006657.1  zinc finger protein 473 isoform 1

      See identical proteins and their annotated locations for NP_001006657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AB032967, AF454744, AL080143
      Consensus CDS
      CCDS33077.1
      UniProtKB/Swiss-Prot
      A8K8T7, Q8WTR7, Q9ULS9, Q9Y4Q7
      Related
      ENSP00000375697.1, ENST00000391821.6
      Conserved Domains (3) summary
      cd07765
      Location:6 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:457 → 860
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:732 → 752
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001308424.3 → NP_001295353.1  zinc finger protein 473 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR and 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB032967, AK302293, AL080143, BC018612, DB086543
      Consensus CDS
      CCDS77335.1
      UniProtKB/TrEMBL
      F8WEC7
      Related
      ENSP00000388961.2, ENST00000445728.7
      Conserved Domains (4) summary
      COG5048
      Location:445 → 848
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:720 → 740
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:732 → 757
      zf-H2C2_2; Zinc-finger double domain
      cl02581
      Location:1 → 33
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    3. NM_015428.4 → NP_056243.1  zinc finger protein 473 isoform 1

      See identical proteins and their annotated locations for NP_056243.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB032967, AF454744, AL080143, BX492803
      Consensus CDS
      CCDS33077.1
      UniProtKB/Swiss-Prot
      A8K8T7, Q8WTR7, Q9ULS9, Q9Y4Q7
      Related
      ENSP00000270617.3, ENST00000270617.8
      Conserved Domains (3) summary
      cd07765
      Location:6 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:457 → 860
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:732 → 752
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      50026005..50048776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      53026101..53048873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTR7.1 GenPept UniProtKB/Swiss-Prot:Q8WTR7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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