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    ZNF383 zinc finger protein 383 [ Homo sapiens (human) ]

    Gene ID: 163087, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF383provided by HGNC
    Official Full Name
    zinc finger protein 383provided by HGNC
    Primary source
    HGNC:HGNC:18609
    See related
    Ensembl:ENSG00000188283 MIM:619499; AllianceGenome:HGNC:18609
    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
    HSD17; Zfp383
    Summary
    The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.1), ovary (RPKM 1.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (37218214..37248740)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (39893160..39924038)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (37709116..37739642)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 585A Neighboring gene Sharpr-MPRA regulatory region 11816 Neighboring gene zinc finger protein 585B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14540 Neighboring gene long intergenic non-protein coding RNA 1535 Neighboring gene Putative uncharacterized protein PP6455

    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. ZNF383, a novel KRAB-containing zinc finger protein, suppresses MAPK signaling pathway. Cao L, et al. Biochem Biophys Res Commun, 2005 Aug 12. PMID 15964543
    2. 19q13.12 KRAB zinc-finger protein ZNF383 represses p53 signaling pathway by interacting with p53. Liang Y, et al. Cell Signal, 2022 Oct. PMID 35835334
    3. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 19q13.12 KRAB zinc-finger protein ZNF383 represses p53 signaling pathway by interacting with p53.
      Title: 19q13.12 KRAB zinc-finger protein ZNF383 represses p53 signaling pathway by interacting with p53.
    2. Overexpression of ZNF383 in cells inhibits the transcriptional activities of AP-1 and SRE, suggesting that ZNF383 may act as a negative regulator in MAPK-mediated signaling pathways.
      Title: ZNF383, a novel KRAB-containing zinc finger protein, suppresses MAPK signaling pathway.
    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

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog

    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

    • FLJ35863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 383

    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_001345947.2 → NP_001332876.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001345948.2 → NP_001332877.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001345949.3 → NP_001332878.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Related
      ENSP00000464871.1, ENST00000589413.5
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001387593.1 → NP_001374522.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001387594.1 → NP_001374523.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001387595.1 → NP_001374524.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Related
      ENSP00000466101.1, ENST00000590503.5
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001387596.1 → NP_001374525.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001387597.1 → NP_001374526.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    9. NM_001387598.1 → NP_001374527.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    10. NM_001387599.1 → NP_001374528.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    11. NM_001387600.1 → NP_001374529.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    12. NM_001387601.1 → NP_001374530.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Related
      ENSP00000507972.1, ENST00000684119.1
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    13. NM_001387602.1 → NP_001374531.1  zinc finger protein 383

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    14. NM_152604.3 → NP_689817.1  zinc finger protein 383

      See identical proteins and their annotated locations for NP_689817.1

      Status: REVIEWED

      Source sequence(s)
      AC012309, AC016590, AK122892, AY438646, KC877738
      Consensus CDS
      CCDS12501.1
      UniProtKB/Swiss-Prot
      Q6X2C7, Q8NA42
      Related
      ENSP00000340132.2, ENST00000352998.7
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:231 → 475
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:312 → 332
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:170 → 192
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:212 → 237
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      37218214..37248740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      39893160..39924038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA42.1 GenPept UniProtKB/Swiss-Prot:Q8NA42

    Gene LinkOut

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

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