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    ZNF493 zinc finger protein 493 [ Homo sapiens (human) ]

    Gene ID: 284443, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF493provided by HGNC
    Official Full Name
    zinc finger protein 493provided by HGNC
    Primary source
    HGNC:HGNC:23708
    See related
    Ensembl:ENSG00000196268 AllianceGenome:HGNC:23708
    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 activator 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. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.3), ovary (RPKM 5.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF493 in Genome Data Viewer
    Location:
    19p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21397133..21427577)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21535634..21566098)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21579935..21610379)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 708 Neighboring gene NANOG hESC enhancer GRCh37_chr19:21500539-21501043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21510155-21510676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14383 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:21512069-21513057 Neighboring gene BCL2 interacting protein 3 pseudogene 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:21540515-21541072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14385 Neighboring gene zinc finger protein 738 Neighboring gene iron-sulfur cluster assembly 1 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:21579974-21580212 Neighboring gene MPRA-validated peak3410 silencer Neighboring gene uncharacterized LOC105372321 Neighboring gene MPRA-validated peak3411 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21643213-21643712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:21646023-21646921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:21657297-21657950 Neighboring gene long intergenic non-protein coding RNA 664

    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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    Related articles in PubMed

    1. 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
    2. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) 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

    • FLJ36504

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 493

    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_001076678.3 → NP_001070146.1  zinc finger protein 493 isoform 3

      See identical proteins and their annotated locations for NP_001070146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC010615, BX648842
      Consensus CDS
      CCDS42536.1
      UniProtKB/Swiss-Prot
      Q6ZR52
      Related
      ENSP00000376110.2, ENST00000392288.7
      Conserved Domains (5) summary
      smart00349
      Location:13 → 73
      KRAB; krueppel associated box
      COG5048
      Location:262 → 667
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:491 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 52
      KRAB; KRAB box
      pfam13465
      Location:363 → 387
      zf-H2C2_2; Zinc-finger double domain

    2. NM_145326.3 → NP_663299.2  zinc finger protein 493 isoform 2

      See identical proteins and their annotated locations for NP_663299.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), includes an alternate exon in the 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 3.
      Source sequence(s)
      AC010615, BC006408, DA804007
      Consensus CDS
      CCDS12411.1
      UniProtKB/TrEMBL
      M0QXT4
      Related
      ENSP00000340651.6, ENST00000339914.6
      Conserved Domains (2) summary
      smart00349
      Location:13 → 74
      KRAB; krueppel associated box
      pfam01352
      Location:13 → 52
      KRAB; KRAB box

    3. NM_175910.7 → NP_787106.4  zinc finger protein 493 isoform 1

      See identical proteins and their annotated locations for NP_787106.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks two exons resulting in use of a downstream start codon, compared to variant 3. It encodes isoform 1, which has a shorter and distinct N-terminus, compared to isoform 3.
      Source sequence(s)
      AB209086, AC010615, DA804007
      Consensus CDS
      CCDS12412.1
      UniProtKB/Swiss-Prot
      G5E974, Q59GM3, Q6ZR52, Q6ZSF6, Q8N1Z6, Q8N965, Q9BR99
      Related
      ENSP00000347691.4, ENST00000355504.4
      Conserved Domains (3) summary
      COG5048
      Location:134 → 539
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:363 → 383
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:235 → 259
      zf-H2C2_2; Zinc-finger double domain

    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
      21397133..21427577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438678.1 → XP_047294634.1  zinc finger protein 493 isoform X2

    2. XM_047438677.1 → XP_047294633.1  zinc finger protein 493 isoform X1

    3. XM_047438679.1 → XP_047294635.1  zinc finger protein 493 isoform X2

    4. XM_047438680.1 → XP_047294636.1  zinc finger protein 493 isoform X3

      UniProtKB/Swiss-Prot
      G5E974, Q59GM3, Q6ZR52, Q6ZSF6, Q8N1Z6, Q8N965, Q9BR99

    5. XM_047438681.1 → XP_047294637.1  zinc finger protein 493 isoform X3

      UniProtKB/Swiss-Prot
      G5E974, Q59GM3, Q6ZR52, Q6ZSF6, Q8N1Z6, Q8N965, Q9BR99

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      21535634..21566098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320702.1 → XP_054176677.1  zinc finger protein 493 isoform X2

    2. XM_054320701.1 → XP_054176676.1  zinc finger protein 493 isoform X1

    3. XM_054320706.1 → XP_054176681.1  zinc finger protein 493 isoform X5

      UniProtKB/TrEMBL
      M0QY95

    4. XM_054320705.1 → XP_054176680.1  zinc finger protein 493 isoform X4

    5. XM_054320703.1 → XP_054176678.1  zinc finger protein 493 isoform X2

    6. XM_054320704.1 → XP_054176679.1  zinc finger protein 493 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZR52.3 GenPept UniProtKB/Swiss-Prot:Q6ZR52

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