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    ZNF454 zinc finger protein 454 [ Homo sapiens (human) ]

    Gene ID: 285676, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF454provided by HGNC
    Official Full Name
    zinc finger protein 454provided by HGNC
    Primary source
    HGNC:HGNC:21200
    See related
    Ensembl:ENSG00000178187 AllianceGenome:HGNC:21200
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF454 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178941198..178990028)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179494467..179543363)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178368199..178393434)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ZFP2 zinc finger protein Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F pseudogene 1 Neighboring gene ZNF454 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83773 Neighboring gene glutamate metabotropic receptor 6 Neighboring gene F-box and WD repeat domain containing 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:178450433-178450934 Neighboring gene zinc finger protein 879

    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. Methylation‑driven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma. Zhu Q, et al. Mol Med Rep, 2020 Mar. PMID 32016477, Free PMC Article
    2. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    3. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.
      Title: Methylation‑driven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell carcinoma.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37444, MGC138481

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor 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 sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 454

    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_001178089.3 → NP_001171560.1  zinc finger protein 454 isoform 1

      See identical proteins and their annotated locations for NP_001171560.1

      Status: VALIDATED

      Source sequence(s)
      AC104117, AK094763, AK292317, DA081954
      Consensus CDS
      CCDS4441.1
      UniProtKB/Swiss-Prot
      Q2M1P2, Q2M323, Q8N9F8
      Related
      ENSP00000430354.1, ENST00000519564.2
      Conserved Domains (6) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:186 → 522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:178 → 200
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:482 → 507
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001178090.3 → NP_001171561.1  zinc finger protein 454 isoform 1

      See identical proteins and their annotated locations for NP_001171561.1

      Status: VALIDATED

      Source sequence(s)
      AC104117, AK094763, BC112276, DA081954, DA331325
      Consensus CDS
      CCDS4441.1
      UniProtKB/Swiss-Prot
      Q2M1P2, Q2M323, Q8N9F8
      Conserved Domains (6) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:186 → 522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:178 → 200
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:482 → 507
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001323306.2 → NP_001310235.1  zinc finger protein 454 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC104117
      Consensus CDS
      CCDS4441.1
      UniProtKB/Swiss-Prot
      Q2M1P2, Q2M323, Q8N9F8
      Conserved Domains (6) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:186 → 522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:178 → 200
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:482 → 507
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001323307.2 → NP_001310236.1  zinc finger protein 454 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104117

    5. NM_001323308.2 → NP_001310237.1  zinc finger protein 454 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104117

    6. NM_001323309.2 → NP_001310238.1  zinc finger protein 454 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104117

    7. NM_001323310.2 → NP_001310239.1  zinc finger protein 454 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104117

    8. NM_182594.4 → NP_872400.2  zinc finger protein 454 isoform 1

      See identical proteins and their annotated locations for NP_872400.2

      Status: VALIDATED

      Source sequence(s)
      AC104117, AK094763, BC112276, DA081954
      Consensus CDS
      CCDS4441.1
      UniProtKB/Swiss-Prot
      Q2M1P2, Q2M323, Q8N9F8
      Related
      ENSP00000326249.3, ENST00000320129.7
      Conserved Domains (6) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:186 → 522
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:178 → 200
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:482 → 507
      zf-H2C2_2; Zinc-finger double domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      178941198..178990028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007058600.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      179494467..179543363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487112.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9F8.2 GenPept UniProtKB/Swiss-Prot:Q8N9F8

    Gene LinkOut

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

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