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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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See ZNF383 in Genome Data Viewer
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

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