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    ZNF551 zinc finger protein 551 [ Homo sapiens (human) ]

    Gene ID: 90233, updated on 27-Aug-2024

    Summary

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    Official Symbol
    ZNF551provided by HGNC
    Official Full Name
    zinc finger protein 551provided by HGNC
    Primary source
    HGNC:HGNC:25108
    See related
    Ensembl:ENSG00000204519 AllianceGenome:HGNC:25108
    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, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.43
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57681977..57690648)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60778907..60787580)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58193345..58202016)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11078 Neighboring gene zinc finger protein 211 Neighboring gene MPRA-validated peak3574 silencer Neighboring gene zinc finger and SCAN domain containing 4 Neighboring gene tumor protein p63 regulated 1 like pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58193037-58193660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11079 Neighboring gene zinc finger protein 154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58220160-58220799 Neighboring gene uncharacterized LOC124904783

    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. Multiple genes encoding zinc finger domains are expressed in human T cells. Thiesen HJ. New Biol, 1990 Apr. PMID 2288909
    2. Large-scale characterization of HeLa cell nuclear phosphoproteins. Beausoleil SA, et al. Proc Natl Acad Sci U S A, 2004 Aug 17. PMID 15302935, Free PMC Article
    3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    4. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, 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

    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

    Potential readthrough

    Included gene: ZNF776

    Homology

    Clone Names

    • MGC52307, DKFZp686H1038

    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 551
    Names
    KOX 23 protein (56 AA)
    zinc finger protein KOX23

    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_001270938.2 → NP_001257867.1  zinc finger protein 551 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at the 3' end of the first exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC004017, AK307670, BC005868
      UniProtKB/Swiss-Prot
      Q7Z340
      Related
      ENSP00000472674.1, ENST00000601064.1
      Conserved Domains (5) summary
      smart00349
      Location:1 → 43
      KRAB; krueppel associated box
      COG5048
      Location:251 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:561 → 581
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:1 → 40
      KRAB; KRAB box
      pfam13465
      Location:601 → 626
      zf-H2C2_2; Zinc-finger double domain

    2. NM_138347.5 → NP_612356.2  zinc finger protein 551 isoform 1

      See identical proteins and their annotated locations for NP_612356.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004017, AK307670, BC005868
      Consensus CDS
      CCDS12959.2
      UniProtKB/Swiss-Prot
      B4DU22, P17034, Q7Z340, Q8N246, Q9BRY1
      Related
      ENSP00000282296.5, ENST00000282296.10
      Conserved Domains (5) summary
      smart00349
      Location:29 → 71
      KRAB; krueppel associated box
      COG5048
      Location:279 → 624
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:589 → 609
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:29 → 68
      KRAB; KRAB box
      pfam13465
      Location:629 → 654
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_073102.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon compared to variant 1. The resulting transcript has an overlapping upstream ORF with a strong Kozak signal, making this a candidate for nonsense-mediated mRNA decay (NMD). Therefore, it is unlikely that this variant encodes a protein.
      Source sequence(s)
      AC004017, AK300465, AK307670, BC005868

    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
      57681977..57690648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60778907..60787580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z340.3 GenPept UniProtKB/Swiss-Prot:Q7Z340

    Gene LinkOut

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

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