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    ZNF317 zinc finger protein 317 [ Homo sapiens (human) ]

    Gene ID: 57693, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZNF317provided by HGNC
    Official Full Name
    zinc finger protein 317provided by HGNC
    Primary source
    HGNC:HGNC:13507
    See related
    Ensembl:ENSG00000130803 MIM:613864; AllianceGenome:HGNC:13507
    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. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 11.1), lymph node (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF317 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (9140397..9163413)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (9266590..9289607)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (9251073..9274089)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily G member 15 pseudogene Neighboring gene olfactory receptor family 7 subfamily G member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:9270512-9271012 Neighboring gene olfactory receptor family 7 subfamily D member 2 Neighboring gene elongin C pseudogene 29 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:9300121-9300643 Neighboring gene olfactory receptor family 7 subfamily E member 16 pseudogene

    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. Molecular cloning and characterization of a KRAB-containing zinc finger protein, ZNF317, and its isoforms. Takashima H, et al. Biochem Biophys Res Commun, 2001 Nov 9. PMID 11688974
    2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    3. Tumor-derived neomorphic mutations in ASXL1 impairs the BAP1-ASXL1-FOXK1/K2 transcription network. Xia YK, et al. Protein Cell, 2021 Jul. PMID 32683582, Free PMC Article
    4. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    5. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. molecular cloning and characterization of isoforms
      Title: Molecular cloning and characterization of a KRAB-containing zinc finger protein, ZNF317, and its isoforms.
    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

    • KIAA1588

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    located_in nucleus HDA PubMed 
    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 317
    Names
    KRAB-containing zinc finger protein 317

    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_001190791.2 → NP_001177720.1  zinc finger protein 317 isoform 2

      See identical proteins and their annotated locations for NP_001177720.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting protein (isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AF148135, BC009367, DA757943
      Consensus CDS
      CCDS54213.1
      Related
      ENSP00000353554.2, ENST00000360385.7
      Conserved Domains (5) summary
      smart00349
      Location:57 → 103
      KRAB; krueppel associated box
      COG5048
      Location:190 → 548
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:472 → 492
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:57 → 96
      KRAB; KRAB box
      pfam13465
      Location:485 → 508
      zf-H2C2_2; Zinc-finger double domain

    2. NM_020933.5 → NP_065984.3  zinc finger protein 317 isoform 1

      See identical proteins and their annotated locations for NP_065984.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC078154, DA757943
      Consensus CDS
      CCDS12210.1
      UniProtKB/Swiss-Prot
      Q6DCA9, Q96PM0, Q96PM1, Q96PQ6, Q96PT2, Q9HCI4
      Related
      ENSP00000247956.5, ENST00000247956.11
      Conserved Domains (3) summary
      smart00349
      Location:57 → 109
      KRAB; krueppel associated box
      COG5048
      Location:222 → 580
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:504 → 524
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_102435.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011464, BC009367
      Related
      ENST00000591278.5

    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
      9140397..9163413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439139.1 → XP_047295095.1  zinc finger protein 317 isoform X1

    RNA

    1. XR_430146.5 RNA Sequence

    2. XR_007066921.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      9266590..9289607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321568.1 → XP_054177543.1  zinc finger protein 317 isoform X1

    RNA

    1. XR_008485171.1 RNA Sequence

    2. XR_008485172.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PQ6.2 GenPept UniProtKB/Swiss-Prot:Q96PQ6

    Gene LinkOut

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

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