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    ZNF114 zinc finger protein 114 [ Homo sapiens (human) ]

    Gene ID: 163071, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF114provided by HGNC
    Official Full Name
    zinc finger protein 114provided by HGNC
    Primary source
    HGNC:HGNC:12894
    See related
    Ensembl:ENSG00000178150 MIM:603996; AllianceGenome:HGNC:12894
    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
    Enables identical protein binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in thyroid (RPKM 2.1), placenta (RPKM 0.5) and 12 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48270081..48287608)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51264184..51281737)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48773338..48790865)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14874 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48763364-48763544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14875 Neighboring gene vomeronasal 1 receptor 97 pseudogene Neighboring gene CARD8 antisense RNA 1 Neighboring gene ZNF114 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48774579-48775085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48775086-48775591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48794631-48795279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48798559-48799060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48799061-48799560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48800397-48800914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48806581-48807105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48807106-48807629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48811608-48812298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48812299-48812988 Neighboring gene outer dynein arm docking complex subunit 1 Neighboring gene Sharpr-MPRA regulatory region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10875 Neighboring gene uncharacterized LOC124904735 Neighboring gene Sharpr-MPRA regulatory region 73 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14881 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48827824-48828055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14885 Neighboring gene epithelial membrane protein 3 (MAM blood group)

    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. Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. Bellefroid EJ, et al. EMBO J, 1993 Apr. PMID 8467795, Free PMC Article
    2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    4. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article
    5. TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells. Chen Y, et al. Biochem Biophys Res Commun, 2022 Oct 15. PMID 35944360

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • MGC17986, MGC149700

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 114
    Names
    zinc finger protein 114 (Y18)

    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_001331097.1 → NP_001318026.1  zinc finger protein 114 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 5, and 6, encodes isoform 1.
      Source sequence(s)
      AC008392, AK291575
      Consensus CDS
      CCDS12713.1
      UniProtKB/Swiss-Prot
      A8K6B0, Q08AQ6, Q8NC26
      Related
      ENSP00000471727.1, ENST00000600687.5
      Conserved Domains (5) summary
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 326
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:5 → 46
      KRAB; KRAB box
      pfam13465
      Location:319 → 343
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:342 → 399
      Ribosomal_L37ae; Ribosomal L37ae protein family

    2. NM_001331098.1 → NP_001318027.1  zinc finger protein 114 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longer isoform (3).
      Source sequence(s)
      AC008392
      Conserved Domains (6) summary
      smart00349
      Location:52 → 111
      KRAB; krueppel associated box
      sd00017
      Location:352 → 372
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:434 → 456
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:52 → 91
      KRAB; KRAB box
      pfam13465
      Location:365 → 389
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:388 → 445
      Ribosomal_L37ae; Ribosomal L37ae protein family

    3. NM_001369811.1 → NP_001356740.1  zinc finger protein 114 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, and 6, encodes isoform 1.
      Source sequence(s)
      AC008392
      Consensus CDS
      CCDS12713.1
      UniProtKB/Swiss-Prot
      A8K6B0, Q08AQ6, Q8NC26
      Related
      ENSP00000318898.1, ENST00000315849.5
      Conserved Domains (5) summary
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 326
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:5 → 46
      KRAB; KRAB box
      pfam13465
      Location:319 → 343
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:342 → 399
      Ribosomal_L37ae; Ribosomal L37ae protein family

    4. NM_001369812.1 → NP_001356741.1  zinc finger protein 114 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 3, and 5, encodes isoform 1.
      Source sequence(s)
      AC008392
      Consensus CDS
      CCDS12713.1
      UniProtKB/Swiss-Prot
      A8K6B0, Q08AQ6, Q8NC26
      Conserved Domains (5) summary
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 326
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:5 → 46
      KRAB; KRAB box
      pfam13465
      Location:319 → 343
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:342 → 399
      Ribosomal_L37ae; Ribosomal L37ae protein family

    5. NM_153608.4 → NP_705836.1  zinc finger protein 114 isoform 1

      See identical proteins and their annotated locations for NP_705836.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 3, 5, and 6, encodes isoform 1.
      Source sequence(s)
      AC008392, AK075062, BG476217
      Consensus CDS
      CCDS12713.1
      UniProtKB/Swiss-Prot
      A8K6B0, Q08AQ6, Q8NC26
      Related
      ENSP00000469998.1, ENST00000595607.6
      Conserved Domains (5) summary
      sd00017
      Location:306 → 326
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 326
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:5 → 46
      KRAB; KRAB box
      pfam13465
      Location:319 → 343
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:342 → 399
      Ribosomal_L37ae; Ribosomal L37ae protein family

    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
      48270081..48287608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026414.3 → XP_016881903.1  zinc finger protein 114 isoform X1

      Conserved Domains (6) summary
      smart00349
      Location:52 → 111
      KRAB; krueppel associated box
      sd00017
      Location:352 → 372
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:434 → 456
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:52 → 91
      KRAB; KRAB box
      pfam13465
      Location:365 → 389
      zf-H2C2_2; Zinc-finger double domain
      cl19284
      Location:388 → 445
      Ribosomal_L37ae; Ribosomal L37ae protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51264184..51281737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320065.1 → XP_054176040.1  zinc finger protein 114 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001301062.1: Suppressed sequence

      Description
      NM_001301062.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC26.1 GenPept UniProtKB/Swiss-Prot:Q8NC26

    Gene LinkOut

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

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