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    ZNF554 zinc finger protein 554 [ Homo sapiens (human) ]

    Gene ID: 115196, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF554provided by HGNC
    Official Full Name
    zinc finger protein 554provided by HGNC
    Primary source
    HGNC:HGNC:26629
    See related
    Ensembl:ENSG00000172006 AllianceGenome:HGNC:26629
    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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.5), placenta (RPKM 1.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF554 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2819868..2836735)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2795155..2812024)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2819866..2836733)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2768763-2769263 Neighboring gene small glutamine rich tetratricopeptide repeat co-chaperone alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2786765-2787291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2787292-2787818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2796022-2796522 Neighboring gene thimet oligopeptidase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2820277-2820970 Neighboring gene MPRA-validated peak3238 silencer Neighboring gene MPRA-validated peak3239 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9815 Neighboring gene zinc finger protein 555 Neighboring gene zinc finger protein 556 Neighboring gene ribosomal protein L35a pseudogene 38

    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 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. Dysfunction of ZNF554 promotes ROS-induced apoptosis and autophagy in Fetal Growth Restriction via the p62-Keap1-Nrf2 pathway. Guo Y, et al. Placenta, 2023 Nov. PMID 37804692
    2. Decreased Expression of ZNF554 in Gliomas is Associated with the Activation of Tumor Pathways and Shorter Patient Survival. Balogh A, et al. Int J Mol Sci, 2020 Aug 11. PMID 32796700, Free PMC Article
    3. ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/β-Catenin Signaling Pathway. Zhu CC, et al. Curr Med Sci, 2024 Apr. PMID 38619681
    4. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/beta-Catenin Signaling Pathway.
      Title: ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/β-Catenin Signaling Pathway.
    2. Dysfunction of ZNF554 promotes ROS-induced apoptosis and autophagy in Fetal Growth Restriction via the p62-Keap1-Nrf2 pathway.
      Title: Dysfunction of ZNF554 promotes ROS-induced apoptosis and autophagy in Fetal Growth Restriction via the p62-Keap1-Nrf2 pathway.
    3. Decreased Expression of ZNF554 in Gliomas is Associated with the Activation of Tumor Pathways and Shorter Patient Survival.
      Title: Decreased Expression of ZNF554 in Gliomas is Associated with the Activation of Tumor Pathways and Shorter Patient Survival.
    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

    • FLJ34817

    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 transcription 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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 554

    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_001102651.2 → NP_001096121.1  zinc finger protein 554

      See identical proteins and their annotated locations for NP_001096121.1

      Status: VALIDATED

      Source sequence(s)
      AC006130, AC006538, AK027860, AK092136, BC000113, BF772510, DC319914
      Consensus CDS
      CCDS42462.1
      UniProtKB/Swiss-Prot
      Q86TJ5, Q8NAT3, Q9BWN3
      Related
      ENSP00000321132.4, ENST00000317243.10
      Conserved Domains (4) summary
      COG5048
      Location:350 → 532
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:382 → 402
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:324 → 346
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:44 → 84
      KRAB; KRAB box

    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
      2819868..2836735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026235.2 → XP_016881724.1  zinc finger protein 554 isoform X3

      Conserved Domains (4) summary
      COG5048
      Location:200 → 382
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:174 → 196
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:328 → 353
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047438128.1 → XP_047294084.1  zinc finger protein 554 isoform X2

    3. XM_017026234.2 → XP_016881723.1  zinc finger protein 554 isoform X1

    4. XM_011527667.4 → XP_011525969.1  zinc finger protein 554 isoform X4

      Conserved Domains (2) summary
      smart00349
      Location:45 → 89
      KRAB; krueppel associated box
      pfam01352
      Location:45 → 84
      KRAB; KRAB box

    5. XM_006722635.4 → XP_006722698.1  zinc finger protein 554 isoform X3

      See identical proteins and their annotated locations for XP_006722698.1

      Conserved Domains (4) summary
      COG5048
      Location:200 → 382
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:174 → 196
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:328 → 353
      zf-H2C2_2; Zinc-finger double domain

    6. XM_017026236.2 → XP_016881725.1  zinc finger protein 554 isoform X3

      Conserved Domains (4) summary
      COG5048
      Location:200 → 382
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:174 → 196
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:328 → 353
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2795155..2812024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319710.1 → XP_054175685.1  zinc finger protein 554 isoform X3

    2. XM_054319709.1 → XP_054175684.1  zinc finger protein 554 isoform X2

    3. XM_054319708.1 → XP_054175683.1  zinc finger protein 554 isoform X1

    4. XM_054319713.1 → XP_054175688.1  zinc finger protein 554 isoform X4

    5. XM_054319712.1 → XP_054175687.1  zinc finger protein 554 isoform X3

    6. XM_054319711.1 → XP_054175686.1  zinc finger protein 554 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152303.2: Suppressed sequence

      Description
      NM_152303.2: This RefSeq was permanently suppressed because it contains the wrong CDS, and the correct CDS makes it a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TJ5.1 GenPept UniProtKB/Swiss-Prot:Q86TJ5

    Gene LinkOut

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

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