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

Gene ID: 284443, updated on 3-Apr-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, Apr 2022]
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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Location:
19p12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21397133..21427577)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21535634..21566098)
105.20220307 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
  • 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. 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
  2. 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
  3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) 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
  
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_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
    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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