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    ZNF517 zinc finger protein 517 [ Homo sapiens (human) ]

    Gene ID: 340385, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF517provided by HGNC
    Official Full Name
    zinc finger protein 517provided by HGNC
    Primary source
    HGNC:HGNC:27984
    See related
    Ensembl:ENSG00000197363 AllianceGenome:HGNC:27984
    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. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.7), skin (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF517 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144798913..144813513)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145972416..145986948)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (146024298..146038427)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 34 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:146015453-146015954 Neighboring gene RNA, 7SL, cytoplasmic 395, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:146015955-146016454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146018867-146019815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146021109-146022007 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146022008-146022906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146024705-146025602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146025603-146026501 Neighboring gene microRNA 6850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146026502-146027399 Neighboring gene ribosomal protein L8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28105 Neighboring gene uncharacterized LOC100130027 Neighboring gene hESC enhancers GRCh37_chr8:146052597-146053122 and GRCh37_chr8:146053123-146053648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146053649-146054174 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:146064238-146064791 Neighboring gene zinc finger protein 7 Neighboring gene COMM domain containing 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:146076290-146076441 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146077648-146078496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28109 Neighboring gene zinc finger protein 250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126184-146126788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126789-146127391 Neighboring gene uncharacterized LOC124902042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146127392-146127995

    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. 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
    2. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    3. 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
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    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 517

    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_001317936.2 → NP_001304865.1  zinc finger protein 517 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      UniProtKB/TrEMBL
      A0AV05
      Conserved Domains (6) summary
      smart00349
      Location:14 → 66
      KRAB; krueppel associated box
      COG5048
      Location:280 → 452
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:200 → 220
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:389 → 411
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 49
      KRAB; KRAB box
      pfam13465
      Location:403 → 428
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001384904.1 → NP_001371833.1  zinc finger protein 517 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Consensus CDS
      CCDS6434.1
      UniProtKB/Swiss-Prot
      Q6ZMY9
      UniProtKB/TrEMBL
      A0AV05
      Conserved Domains (3) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:287 → 459
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:207 → 227
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001384905.1 → NP_001371834.1  zinc finger protein 517 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Consensus CDS
      CCDS6434.1
      UniProtKB/Swiss-Prot
      Q6ZMY9
      UniProtKB/TrEMBL
      A0AV05
      Conserved Domains (3) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:287 → 459
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:207 → 227
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001384906.1 → NP_001371835.1  zinc finger protein 517 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Conserved Domains (1) summary
      pfam01352
      Location:14 → 49
      KRAB; KRAB box

    5. NM_001384907.1 → NP_001371836.1  zinc finger protein 517 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Consensus CDS
      CCDS94367.1
      UniProtKB/TrEMBL
      G3V191
      Related
      ENSP00000433299.1, ENST00000525105.5
      Conserved Domains (1) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box

    6. NM_001384908.1 → NP_001371837.1  zinc finger protein 517 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Consensus CDS
      CCDS94367.1
      UniProtKB/TrEMBL
      G3V191
      Conserved Domains (1) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box

    7. NM_213605.3 → NP_998770.2  zinc finger protein 517 isoform 1

      See identical proteins and their annotated locations for NP_998770.2

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379
      Consensus CDS
      CCDS6434.1
      UniProtKB/Swiss-Prot
      Q6ZMY9
      UniProtKB/TrEMBL
      A0AV05
      Related
      ENSP00000353058.3, ENST00000359971.4
      Conserved Domains (3) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:287 → 459
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:207 → 227
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_134284.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379

    2. NR_134285.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF235103, KC877379

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144798913..144813513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421745.1 → XP_047277701.1  zinc finger protein 517 isoform X3

      UniProtKB/TrEMBL
      G3V191

    2. XM_011517017.4 → XP_011515319.1  zinc finger protein 517 isoform X1

      UniProtKB/TrEMBL
      B7ZLN6, H0YCN3
      Related
      ENSP00000432025.1, ENST00000529429.5
      Conserved Domains (4) summary
      COG5048
      Location:265 → 437
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:185 → 205
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:374 → 396
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:388 → 413
      zf-H2C2_2; Zinc-finger double domain

    3. XM_017013384.3 → XP_016868873.1  zinc finger protein 517 isoform X2

      UniProtKB/TrEMBL
      H0YCN3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145972416..145986948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360414.1 → XP_054216389.1  zinc finger protein 517 isoform X3

      UniProtKB/TrEMBL
      G3V191

    2. XM_054360412.1 → XP_054216387.1  zinc finger protein 517 isoform X1

    3. XM_054360413.1 → XP_054216388.1  zinc finger protein 517 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMY9.2 GenPept UniProtKB/Swiss-Prot:Q6ZMY9

    Gene LinkOut

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

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