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

Gene ID: 100131827, updated on 2-Nov-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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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)

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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