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    ZNF717 zinc finger protein 717 [ Homo sapiens (human) ]

    Gene ID: 100131827, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF717provided by HGNC
    Official Full Name
    zinc finger protein 717provided by HGNC
    Primary source
    HGNC:HGNC:29448
    See related
    Ensembl:ENSG00000227124 MIM:618405; AllianceGenome:HGNC:29448
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OB1; X17; ZNF838
    Summary
    This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Ubiquitous expression in testis (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF717 in Genome Data Viewer
    Location:
    3p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (75694701..75785549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (75764322..75838835, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (75779112..75834700, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:75718139-75718640 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:75718641-75719140 Neighboring gene Sharpr-MPRA regulatory region 15711 Neighboring gene long intergenic non-protein coding RNA 960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:75821208-75821708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:75821709-75822209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20105 Neighboring gene MPRA-validated peak4708 silencer Neighboring gene double homeobox 4 like 26 (pseudogene) Neighboring gene RNA, 7SL, cytoplasmic 92, pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:75899387-75899888 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:75899889-75900388 Neighboring gene microRNA 4273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:75955554-75956084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:75956085-75956613 Neighboring gene NANOG hESC enhancer GRCh37_chr3:75982289-75982809 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:76008545-76009744 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:76092499-76093032 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:76093033-76093565 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:76119119-76119976 Neighboring gene roundabout guidance receptor 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:76247194-76247810 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:76251853-76253052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71192 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:76291943-76292450 Neighboring gene uncharacterized LOC124900544 Neighboring gene CAP1 pseudogene 1

    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. Diverse modes of clonal evolution in HBV-related hepatocellular carcinoma revealed by single-cell genome sequencing. Duan M, et al. Cell Res, 2018 Mar. PMID 29327728, Free PMC Article
    2. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997
    3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Vandamme J, et al. Mol Cell Proteomics, 2011 Apr. PMID 21282530, Free PMC Article
    4. NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Chen W, et al. Cell Death Dis, 2020 Jul 14. PMID 32665550, Free PMC Article
    5. 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

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF717 gene exhibited a high frequency of mutation in hepatocellular carcinoma at both single-cell and population levels.
      Title: Diverse modes of clonal evolution in HBV-related hepatocellular carcinoma revealed by single-cell genome sequencing.
    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

    • FLJ41782

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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 positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 717
    Names
    krueppel-like factor X17
    kruppel-like zinc finger factor X17
    zinc finger protein 838

    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.

    Genomic

    1. NG_047070.2 RefSeqGene

      Range
      5000..54681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128223.3 → NP_001121695.1  zinc finger protein 717 isoform a

      See identical proteins and their annotated locations for NP_001121695.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC108724, DB079386, DB491038, DR006008
      UniProtKB/Swiss-Prot
      A0A494C0W3, Q9BY31
      Conserved Domains (3) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      COG5048
      Location:309 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:816 → 836
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001290208.3 → NP_001277137.1  zinc finger protein 717 isoform a

      See identical proteins and their annotated locations for NP_001277137.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC108724, DA618280, DB079386, DR006008, HY057162
      UniProtKB/Swiss-Prot
      A0A494C0W3, Q9BY31
      Related
      ENSP00000498738.1, ENST00000652011.2
      Conserved Domains (3) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      COG5048
      Location:309 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:816 → 836
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001290209.3 → NP_001277138.1  zinc finger protein 717 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC108724, DA618280, DB079386, DR006008
      Consensus CDS
      CCDS77773.1
      UniProtKB/TrEMBL
      C9JVC3
      Related
      ENSP00000419377.1, ENST00000478296.5
      Conserved Domains (5) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:259 → 639
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:766 → 786
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:820 → 842
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:415 → 440
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001290210.2 → NP_001277139.1  zinc finger protein 717 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and contains alternate 3' exon structure and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a. Variants 4 and 5 encode the same isoform.
      Source sequence(s)
      BQ189284, BQ928230, BX091527, DA618280, DR006008
      Consensus CDS
      CCDS77774.1
      UniProtKB/TrEMBL
      C9J5W8, C9J8I7, C9JQ47
      Related
      ENSP00000417902.1, ENST00000477374.5
      Conserved Domains (2) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      pfam01352
      Location:22 → 61
      KRAB; KRAB box

    5. NM_001324026.2 → NP_001310955.1  zinc finger protein 717 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: Variants 4 and 5 encode the same isoform (c).
      Source sequence(s)
      AC108724, AC133123, BQ189284
      Consensus CDS
      CCDS77774.1
      UniProtKB/TrEMBL
      C9J5W8, C9J8I7, C9JQ47
      Conserved Domains (2) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      pfam01352
      Location:22 → 61
      KRAB; KRAB box

    6. NM_001324027.1 → NP_001310956.1  zinc finger protein 717 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC108724, AC133123, BQ189284

    7. NM_001324028.1 → NP_001310957.1  zinc finger protein 717 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC108724, AC133123, BQ189284

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      75694701..75785549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447041.1 → XP_047302997.1  zinc finger protein 717 isoform X11

    2. XM_011533251.2 → XP_011531553.1  zinc finger protein 717 isoform X10

      Conserved Domains (2) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      pfam01352
      Location:56 → 95
      KRAB; KRAB box

    3. XM_011533250.4 → XP_011531552.1  zinc finger protein 717 isoform X8

      Conserved Domains (2) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      pfam01352
      Location:56 → 95
      KRAB; KRAB box

    4. XM_011533249.4 → XP_011531551.1  zinc finger protein 717 isoform X7

      Conserved Domains (5) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      COG5048
      Location:343 → 723
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:543 → 563
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:56 → 95
      KRAB; KRAB box
      pfam13465
      Location:499 → 524
      zf-H2C2_2; Zinc-finger double domain

    5. XM_011533248.3 → XP_011531550.1  zinc finger protein 717 isoform X6

      Conserved Domains (6) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      COG5048
      Location:343 → 723
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:543 → 563
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:429 → 451
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:56 → 95
      KRAB; KRAB box
      pfam13465
      Location:499 → 524
      zf-H2C2_2; Zinc-finger double domain

    6. XM_011533246.4 → XP_011531548.1  zinc finger protein 717 isoform X3

      Conserved Domains (5) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      COG5048
      Location:343 → 723
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:543 → 563
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:56 → 95
      KRAB; KRAB box
      pfam13465
      Location:499 → 524
      zf-H2C2_2; Zinc-finger double domain

    7. XM_047447039.1 → XP_047302995.1  zinc finger protein 717 isoform X4

      UniProtKB/Swiss-Prot
      A0A494C0W3, Q9BY31

    8. XM_047447038.1 → XP_047302994.1  zinc finger protein 717 isoform X4

      UniProtKB/Swiss-Prot
      A0A494C0W3, Q9BY31

    9. XM_011533244.4 → XP_011531546.1  zinc finger protein 717 isoform X1

      Conserved Domains (6) summary
      smart00349
      Location:56 → 116
      KRAB; krueppel associated box
      COG5048
      Location:343 → 723
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:850 → 870
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:904 → 926
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:56 → 95
      KRAB; KRAB box
      pfam13465
      Location:499 → 524
      zf-H2C2_2; Zinc-finger double domain

    10. XM_005264711.5 → XP_005264768.1  zinc finger protein 717 isoform X4

      See identical proteins and their annotated locations for XP_005264768.1

      UniProtKB/Swiss-Prot
      A0A494C0W3, Q9BY31
      Conserved Domains (3) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      COG5048
      Location:309 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:816 → 836
      ZF_C2H2; C2H2 Zn finger [structural motif]

    11. XM_011533245.4 → XP_011531547.1  zinc finger protein 717 isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:34 → 94
      KRAB; krueppel associated box
      COG5048
      Location:321 → 701
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:828 → 848
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:882 → 904
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:34 → 73
      KRAB; KRAB box
      pfam13465
      Location:477 → 502
      zf-H2C2_2; Zinc-finger double domain

    12. XM_024453284.2 → XP_024309052.1  zinc finger protein 717 isoform X5

      Conserved Domains (3) summary
      smart00349
      Location:15 → 75
      KRAB; krueppel associated box
      COG5048
      Location:302 → 682
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:809 → 829
      ZF_C2H2; C2H2 Zn finger [structural motif]

    13. XM_047447040.1 → XP_047302996.1  zinc finger protein 717 isoform X9

    RNA

    1. XR_007090409.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      75764322..75838835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344818.1 → XP_054200793.1  zinc finger protein 717 isoform X13

    2. XM_054344812.1 → XP_054200787.1  zinc finger protein 717 isoform X6

    3. XM_054344809.1 → XP_054200784.1  zinc finger protein 717 isoform X3

    4. XM_054344814.1 → XP_054200789.1  zinc finger protein 717 isoform X12

    5. XM_054344813.1 → XP_054200788.1  zinc finger protein 717 isoform X7

    6. XM_054344815.1 → XP_054200790.1  zinc finger protein 717 isoform X8

    7. XM_054344817.1 → XP_054200792.1  zinc finger protein 717 isoform X10

    8. XM_054344807.1 → XP_054200782.1  zinc finger protein 717 isoform X1

    9. XM_054344810.1 → XP_054200785.1  zinc finger protein 717 isoform X4

    10. XM_054344808.1 → XP_054200783.1  zinc finger protein 717 isoform X2

    11. XM_054344811.1 → XP_054200786.1  zinc finger protein 717 isoform X5

    12. XM_054344816.1 → XP_054200791.1  zinc finger protein 717 isoform X9

    RNA

    1. XR_008486616.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BY31.3 GenPept UniProtKB/Swiss-Prot:Q9BY31

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