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    ZNF548 zinc finger protein 548 [ Homo sapiens (human) ]

    Gene ID: 147694, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF548provided by HGNC
    Official Full Name
    zinc finger protein 548provided by HGNC
    Primary source
    HGNC:HGNC:26561
    See related
    Ensembl:ENSG00000188785 AllianceGenome:HGNC:26561
    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
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific 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, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 1.5), lymph node (RPKM 1.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF548 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57389854..57402992)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60486884..60500022)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57901222..57914360)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:57861815-57862674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:57862675-57863533 Neighboring gene zinc finger protein 304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15136 Neighboring gene trafficking protein particle complex subunit 2B Neighboring gene zinc finger protein 547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:57915187-57915686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15141 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:57923026-57923228 Neighboring gene zinc finger protein 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15143 Neighboring gene zinc finger protein 749

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15. Han T, et al. Science, 2017 Apr 28. PMID 28302793
    2. A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling. Kumar P, et al. J Proteome Res, 2017 Aug 4. PMID 28675297, Free PMC Article
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32932

    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
    		  
    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 548

    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_001172773.2 → NP_001166244.1  zinc finger protein 548 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC003002, AW449330, BC030788, BP244372
      Consensus CDS
      CCDS54324.1
      UniProtKB/Swiss-Prot
      Q8NEK5
      Related
      ENSP00000337555.6, ENST00000336128.12
      Conserved Domains (5) summary
      smart00349
      Location:20 → 60
      KRAB; krueppel associated box
      COG5048
      Location:292 → 507
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:295 → 315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:20 → 59
      KRAB; KRAB box
      pfam13465
      Location:280 → 304
      zf-H2C2_2; Zinc-finger double domain

    2. NM_152909.4 → NP_690873.2  zinc finger protein 548 isoform 2

      See identical proteins and their annotated locations for NP_690873.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC003002, AW449330, BC030788, BP244372
      Consensus CDS
      CCDS46209.1
      UniProtKB/Swiss-Prot
      Q8NEK5, Q96M05
      Related
      ENSP00000379482.3, ENST00000366197.10
      Conserved Domains (5) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box
      COG5048
      Location:280 → 495
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:283 → 303
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:268 → 292
      zf-H2C2_2; Zinc-finger double 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      57389854..57402992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60486884..60500022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEK5.2 GenPept UniProtKB/Swiss-Prot:Q8NEK5

    Gene LinkOut

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

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