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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)

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

  • 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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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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