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    ZNF418 zinc finger protein 418 [ Homo sapiens (human) ]

    Gene ID: 147686, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF418provided by HGNC
    Official Full Name
    zinc finger protein 418provided by HGNC
    Primary source
    HGNC:HGNC:20647
    See related
    Ensembl:ENSG00000196724 MIM:619509; AllianceGenome:HGNC:20647
    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
    Also known as
    ZFP418
    Summary
    Enables DNA-binding transcription repressor activity. Predicted to be involved in microautophagy; regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.8), skin (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF418 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57921882..57935402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61018805..61032325, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58433250..58446770, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 814 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:58398549-58399281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399306-58399849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399850-58400392 Neighboring gene zinc finger protein 417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58428025-58428880 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58446173-58447055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15173 Neighboring gene zinc finger protein 256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15174 Neighboring gene ribosomal protein L19 pseudogene 19

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway.
      Title: A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway.
    2. Integration analysis of esophageal squamous cell carcinoma (ESCC) identified five hyper-methylated CpG sites in STK3, ZNF418 and ZNF542 that can be used for effective methylation-based testing for ESCC diagnosis.
      Title: Targeted bisulfite sequencing identified a panel of DNA methylation-based biomarkers for esophageal squamous cell carcinoma (ESCC).
    3. the deficiency of ZNF418 enhanced the phosphorylation level of c-jun, and overexpression of ZNF418 suppressed the phosphorylation level of c-jun in vivo and in vitro
      Title: Zinc-finger protein 418 overexpression protects against cardiac hypertrophy and fibrosis.
    4. These results suggest that ZNF418 is a member of the zincfinger transcription factor family and may act as a negative regulator in MAPK signaling pathway.
      Title: ZNF418, a novel human KRAB/C2H2 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31551, KIAA1956, MGC138449

    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 DNA-binding transcription repressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 microautophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 418

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001317027.2 → NP_001303956.1  zinc finger protein 418 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC010326, AK293723, AY695825
      Consensus CDS
      CCDS82410.1
      UniProtKB/TrEMBL
      J3KQR4
      Related
      ENSP00000407039.2, ENST00000425570.7
      Conserved Domains (5) summary
      smart00349
      Location:26 → 67
      KRAB; krueppel associated box
      COG5048
      Location:304 → 692
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:505 → 525
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:26 → 65
      KRAB; KRAB box
      pfam13465
      Location:433 → 458
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001317028.2 → NP_001303957.1  zinc finger protein 418 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC010326, AK293723, AY695825, DA961678
      UniProtKB/Swiss-Prot
      Q8TF45
      UniProtKB/TrEMBL
      B7Z1P3
      Conserved Domains (5) summary
      smart00349
      Location:6 → 47
      KRAB; krueppel associated box
      COG5048
      Location:284 → 672
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:485 → 505
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001317029.2 → NP_001303958.1  zinc finger protein 418 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC010326, AK293723, AY695825, DA113968
      Consensus CDS
      CCDS42642.1
      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18
      Conserved Domains (3) summary
      COG5048
      Location:283 → 671
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:484 → 504
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 45
      KRAB; KRAB box

    4. NM_001317030.2 → NP_001303959.1  zinc finger protein 418 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC010326, AK293723, AK304632, AY695825
      Consensus CDS
      CCDS82409.1
      UniProtKB/TrEMBL
      M0QX82
      Related
      ENSP00000468968.1, ENST00000599852.1
      Conserved Domains (2) summary
      COG5048
      Location:198 → 586
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:399 → 419
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_133460.3 → NP_597717.1  zinc finger protein 418 isoform c

      See identical proteins and their annotated locations for NP_597717.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC010326, AK293723, AY695825
      Consensus CDS
      CCDS42642.1
      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18
      Related
      ENSP00000379451.1, ENST00000396147.6
      Conserved Domains (3) summary
      COG5048
      Location:283 → 671
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:484 → 504
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 45
      KRAB; KRAB box

    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
      57921882..57935402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438220.1 → XP_047294176.1  zinc finger protein 418 isoform X8

    2. XM_047438221.1 → XP_047294177.1  zinc finger protein 418 isoform X8

    3. XM_047438216.1 → XP_047294172.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18
      Related
      ENSP00000483763.1, ENST00000616958.1

    4. XM_047438205.1 → XP_047294161.1  zinc finger protein 418 isoform X5

    5. XM_047438203.1 → XP_047294159.1  zinc finger protein 418 isoform X5

    6. XM_047438198.1 → XP_047294154.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4

    7. XM_047438215.1 → XP_047294171.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    8. XM_047438212.1 → XP_047294168.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    9. XM_047438206.1 → XP_047294162.1  zinc finger protein 418 isoform X5

    10. XM_047438207.1 → XP_047294163.1  zinc finger protein 418 isoform X5

    11. XM_047438197.1 → XP_047294153.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4

    12. XM_017026314.3 → XP_016881803.1  zinc finger protein 418 isoform X8

    13. XM_047438219.1 → XP_047294175.1  zinc finger protein 418 isoform X8

    14. XM_047438214.1 → XP_047294170.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    15. XM_047438210.1 → XP_047294166.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    16. XM_017026311.2 → XP_016881800.1  zinc finger protein 418 isoform X5

      Conserved Domains (5) summary
      smart00349
      Location:6 → 47
      KRAB; krueppel associated box
      COG5048
      Location:284 → 672
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:485 → 505
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    17. XM_017026310.2 → XP_016881799.1  zinc finger protein 418 isoform X5

      Conserved Domains (5) summary
      smart00349
      Location:6 → 47
      KRAB; krueppel associated box
      COG5048
      Location:284 → 672
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:485 → 505
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    18. XM_047438196.1 → XP_047294152.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4

    19. XM_047438211.1 → XP_047294167.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    20. XM_047438204.1 → XP_047294160.1  zinc finger protein 418 isoform X5

    21. XM_047438195.1 → XP_047294151.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4

    22. XM_047438217.1 → XP_047294173.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18

    23. XM_017026313.2 → XP_016881802.1  zinc finger protein 418 isoform X6

      UniProtKB/Swiss-Prot
      Q2M1S2, Q670L5, Q8TF45, Q96N18
      Conserved Domains (3) summary
      COG5048
      Location:283 → 671
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:484 → 504
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 45
      KRAB; KRAB box

    24. XM_047438202.1 → XP_047294158.1  zinc finger protein 418 isoform X4

    25. XM_047438201.1 → XP_047294157.1  zinc finger protein 418 isoform X4

    26. XM_017026308.3 → XP_016881797.1  zinc finger protein 418 isoform X3

    27. XM_047438200.1 → XP_047294156.1  zinc finger protein 418 isoform X3

    28. XM_047438209.1 → XP_047294165.1  zinc finger protein 418 isoform X5

    29. XM_047438199.1 → XP_047294155.1  zinc finger protein 418 isoform X2

    30. XM_047438218.1 → XP_047294174.1  zinc finger protein 418 isoform X7

    31. XM_017026304.3 → XP_016881793.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4
      Conserved Domains (5) summary
      smart00349
      Location:26 → 67
      KRAB; krueppel associated box
      COG5048
      Location:304 → 692
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:505 → 525
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:26 → 65
      KRAB; KRAB box
      pfam13465
      Location:433 → 458
      zf-H2C2_2; Zinc-finger double domain

    32. XM_017026305.3 → XP_016881794.1  zinc finger protein 418 isoform X1

      UniProtKB/TrEMBL
      J3KQR4
      Conserved Domains (5) summary
      smart00349
      Location:26 → 67
      KRAB; krueppel associated box
      COG5048
      Location:304 → 692
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:505 → 525
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:26 → 65
      KRAB; KRAB box
      pfam13465
      Location:433 → 458
      zf-H2C2_2; Zinc-finger double domain

    33. XM_047438208.1 → XP_047294164.1  zinc finger protein 418 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61018805..61032325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319858.1 → XP_054175833.1  zinc finger protein 418 isoform X4

    2. XM_054319857.1 → XP_054175832.1  zinc finger protein 418 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF45.2 GenPept UniProtKB/Swiss-Prot:Q8TF45

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