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ZNF718 zinc finger protein 718 [ Homo sapiens (human) ]

Gene ID: 255403, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF718provided by HGNC
Official Full Name
zinc finger protein 718provided by HGNC
Primary source
HGNC:HGNC:26889
See related
Ensembl:ENSG00000250312 AllianceGenome:HGNC:26889
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 factor 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, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 2.0), urinary bladder (RPKM 1.4) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
4p16.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (124476..202306)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (123916..195646)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (124358..196095)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:53076-54017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54018-54958 Neighboring gene zinc finger protein 595 Neighboring gene WEE1 pseudogene 1 Neighboring gene uncharacterized LOC124900641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21125 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:145148-146002 Neighboring gene NANOG hESC enhancer GRCh37_chr4:167459-167993 Neighboring gene WEE1 homolog (S. pombe) pseudogene Neighboring gene zinc finger protein 141-like Neighboring gene zinc finger protein 876, pseudogene Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene

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. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Xu J, et al. Proc Natl Acad Sci U S A, 2010 Feb 2. PMID 20080650, Free PMC Article
  2. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
Submit: New GeneRIF Correction

Phenotypes

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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

  • FLJ90036

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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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 nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 718

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_001039127.6 → NP_001034216.2  zinc finger protein 718 isoform a

    See identical proteins and their annotated locations for NP_001034216.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC253576, AL833758, BC104027, CA411757, DA386535, N73572
    Consensus CDS
    CCDS75078.1
    UniProtKB/Swiss-Prot
    A0A075B7G5, A8WFQ3, Q3SXZ3, Q3SXZ4, Q3SXZ5
    Related
    ENSP00000480556.1, ENST00000510175.6
    Conserved Domains (3) summary
    smart00349
    Location:4 → 64
    KRAB; krueppel associated box
    COG5048
    Location:225 → 386
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:313 → 333
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001289930.2 → NP_001276859.1  zinc finger protein 718 isoform b

    See identical proteins and their annotated locations for NP_001276859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 enocde isoform b.
    Source sequence(s)
    AC253576, AL833758, BC104026, BC104027, CA411757, DA386535, N73572
    Consensus CDS
    CCDS75079.1
    UniProtKB/Swiss-Prot
    Q3SXZ3
    UniProtKB/TrEMBL
    A0A075B7G5, Q658L4
    Related
    ENSP00000476435.1, ENST00000609714.1
    Conserved Domains (5) summary
    smart00349
    Location:1 → 32
    KRAB; krueppel associated box
    COG5048
    Location:193 → 354
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281 → 301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:195 → 217
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:405 → 430
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001289931.2 → NP_001276860.1  zinc finger protein 718 isoform b

    See identical proteins and their annotated locations for NP_001276860.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 enocde isoform b.
    Source sequence(s)
    AC253576, AL833758, BC104027, CA411757, CN265977, N73572
    Consensus CDS
    CCDS75079.1
    UniProtKB/Swiss-Prot
    Q3SXZ3
    UniProtKB/TrEMBL
    A0A075B7G5, Q658L4
    Conserved Domains (5) summary
    smart00349
    Location:1 → 32
    KRAB; krueppel associated box
    COG5048
    Location:193 → 354
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281 → 301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:195 → 217
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:405 → 430
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_110527.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC253576, AI367791, BC020836
    Related
    ENST00000642529.1

  2. NR_110528.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AI367791, CN413889, DA386535, DB073415

  3. NR_110529.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC253576, AL833758, BC104027, CA411757, DA386535, N73572

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    124476..202306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007980.3 → XP_016863469.1  zinc finger protein 718 isoform X1

    UniProtKB/TrEMBL
    A0A075B7G5
    Conserved Domains (5) summary
    smart00349
    Location:1 → 32
    KRAB; krueppel associated box
    COG5048
    Location:193 → 354
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281 → 301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:195 → 217
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:405 → 430
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    123916..195646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153691.4: Suppressed sequence

    Description
    NM_153691.4: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3SXZ3.2 GenPept UniProtKB/Swiss-Prot:Q3SXZ3

Gene LinkOut

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