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

Gene ID: 25888, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50026005..50048776)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53026101..53048873)
105.20220307 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 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. Conserved zinc fingers mediate multiple functions of ZFP100, a U7snRNP associated protein. Wagner EJ, et al. RNA, 2006 Jul. PMID 16714279, Free PMC Article
  4. 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
  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 (22) 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)

Genotypes

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_2023_10

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

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