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

Gene ID: 147694, updated on 2-Nov-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, Nov 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: 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. 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

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