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    ZNF444 zinc finger protein 444 [ Homo sapiens (human) ]

    Gene ID: 55311, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF444provided by HGNC
    Official Full Name
    zinc finger protein 444provided by HGNC
    Primary source
    HGNC:HGNC:16052
    See related
    Ensembl:ENSG00000167685 MIM:607874; AllianceGenome:HGNC:16052
    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
    EZF2; EZF-2; ZSCAN17
    Summary
    This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in prostate (RPKM 3.1), stomach (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF444 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (56132553..56160893)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59231414..59259774)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56652656..56672262)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 787 Neighboring gene uncharacterized LOC124904773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56626767-56627443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56628849-56629564 Neighboring gene Sharpr-MPRA regulatory region 1998 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56632431-56633146 Neighboring gene uncharacterized LOC124904772 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56640200-56640700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56640701-56641201 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15116 Neighboring gene MPRA-validated peak3570 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:56686512-56687062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56687063-56687613 Neighboring gene CRISPRi-validated cis-regulatory element chr19.6329 Neighboring gene galanin like peptide Neighboring gene zinc finger and SCAN domain containing 5B

    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. t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma. Brandal P, et al. Genes Chromosomes Cancer, 2009 Dec. PMID 19760602
    2. Characterization of the human gene encoding the scavenger receptor expressed by endothelial cell and its regulation by a novel transcription factor, endothelial zinc finger protein-2. Adachi H, et al. J Biol Chem, 2002 Jul 5. PMID 11978792
    3. Cellular substrates and pro-apoptotic function of the human HtrA4 protease. Wenta T, et al. J Proteomics, 2019 Oct 30. PMID 31470122
    4. The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. Diner BA, et al. Mol Syst Biol, 2015 Feb 9. PMID 25665578, Free PMC Article
    5. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 is associated with soft tissue myoepithelial carcinoma.
      Title: t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma.
    2. regulates the human gene encoding the scavenger receptor expressed by endothelial cells
      Title: Characterization of the human gene encoding the scavenger receptor expressed by endothelial cell and its regulation by a novel transcription factor, endothelial zinc finger protein-2.
    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

    • FLJ11137

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    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 444
    Names
    endothelial zinc finger protein 2
    zinc finger and SCAN domain-containing protein 17

    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_001253792.2 → NP_001240721.1  zinc finger protein 444 isoform 2

      See identical proteins and their annotated locations for NP_001240721.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AB052954, AC024580
      Consensus CDS
      CCDS59426.1
      UniProtKB/TrEMBL
      Q53F81
      Related
      ENSP00000468069.1, ENST00000592949.5
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 181
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:178 → 279
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:180 → 200
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:277 → 299
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    2. NM_018337.4 → NP_060807.2  zinc finger protein 444 isoform 1

      See identical proteins and their annotated locations for NP_060807.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AL834130, BI823582
      Consensus CDS
      CCDS12939.1
      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Related
      ENSP00000338860.3, ENST00000337080.8
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN 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
      56132553..56160893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451575.2 → XP_024307343.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    2. XM_005259035.2 → XP_005259092.1  zinc finger protein 444 isoform X1

      See identical proteins and their annotated locations for XP_005259092.1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    3. XM_047439042.1 → XP_047294998.1  zinc finger protein 444 isoform X2

    4. XM_005259034.3 → XP_005259091.1  zinc finger protein 444 isoform X1

      See identical proteins and their annotated locations for XP_005259091.1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    5. XM_047439039.1 → XP_047294995.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    6. XM_047439038.1 → XP_047294994.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    7. XM_047439037.1 → XP_047294993.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    8. XM_024451573.2 → XP_024307341.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    9. XM_047439041.1 → XP_047294997.1  zinc finger protein 444 isoform X2

    10. XM_005259036.2 → XP_005259093.1  zinc finger protein 444 isoform X1

      See identical proteins and their annotated locations for XP_005259093.1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    11. XM_047439043.1 → XP_047294999.1  zinc finger protein 444 isoform X2

    12. XM_024451576.1 → XP_024307344.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1
      UniProtKB/TrEMBL
      Q53F81
      Conserved Domains (5) summary
      PRK14959
      Location:60 → 182
      PRK14959; DNA polymerase III subunits gamma and tau; Provisional
      COG5048
      Location:179 → 280
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:181 → 201
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:278 → 300
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:21 → 98
      SCAN; SCAN domain

    13. XM_047439044.1 → XP_047295000.1  zinc finger protein 444 isoform X2

    14. XM_047439040.1 → XP_047294996.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    15. XM_017026933.2 → XP_016882422.1  zinc finger protein 444 isoform X3

      Conserved Domains (3) summary
      COG5048
      Location:82 → 154
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:102 → 122
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:114 → 139
      zf-H2C2_2; Zinc-finger double domain

    16. XM_047439045.1 → XP_047295001.1  zinc finger protein 444 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      59231414..59259774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321366.1 → XP_054177341.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    2. XM_054321363.1 → XP_054177338.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    3. XM_054321371.1 → XP_054177346.1  zinc finger protein 444 isoform X2

    4. XM_054321362.1 → XP_054177337.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    5. XM_054321368.1 → XP_054177343.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    6. XM_054321367.1 → XP_054177342.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    7. XM_054321370.1 → XP_054177345.1  zinc finger protein 444 isoform X2

    8. XM_054321361.1 → XP_054177336.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    9. XM_054321360.1 → XP_054177335.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    10. XM_054321372.1 → XP_054177347.1  zinc finger protein 444 isoform X2

    11. XM_054321365.1 → XP_054177340.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    12. XM_054321364.1 → XP_054177339.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    13. XM_054321373.1 → XP_054177348.1  zinc finger protein 444 isoform X2

    14. XM_054321369.1 → XP_054177344.1  zinc finger protein 444 isoform X1

      UniProtKB/Swiss-Prot
      Q8N0Y2, Q8TEQ9, Q8WU35, Q9NUU1

    15. XM_054321374.1 → XP_054177349.1  zinc finger protein 444 isoform X3

    16. XM_054321375.1 → XP_054177350.1  zinc finger protein 444 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0Y2.1 GenPept UniProtKB/Swiss-Prot:Q8N0Y2

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