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

Gene ID: 340385, updated on 3-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144798913..144813513)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145972416..145986948)
105.20220307 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
  • 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_2023_10

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

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