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    ZNF639 zinc finger protein 639 [ Homo sapiens (human) ]

    Gene ID: 51193, updated on 26-Nov-2024

    Summary

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    Official Symbol
    ZNF639provided by HGNC
    Official Full Name
    zinc finger protein 639provided by HGNC
    Primary source
    HGNC:HGNC:30950
    See related
    Ensembl:ENSG00000121864 MIM:619214; AllianceGenome:HGNC:30950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZASC1; ANC-2H01; ANC_2H01
    Summary
    This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.3), bone marrow (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF639 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179322876..179338583)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182126717..182142424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179040664..179056371)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14913 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr3:178905170-178905394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:178980593-178981094 Neighboring gene potassium calcium-activated channel subfamily M regulatory beta subunit 3 Neighboring gene LRR binding FLII interacting protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:179008749-179009491 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179065206-179065735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14917 Neighboring gene mitofusin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20867 Neighboring gene G protein subunit beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179160994-179161145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14919 Neighboring gene ribosomal protein L29 pseudogene 34

    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. Increase of ZASC1 gene copy number in recurrent oral carcinoma. Chiang WF, et al. Oral Dis, 2011 Jan. PMID 20646234
    2. Identification of ZASC1 encoding a Krüppel-like zinc finger protein as a novel target for 3q26 amplification in esophageal squamous cell carcinomas. Imoto I, et al. Cancer Res, 2003 Sep 15. PMID 14522885
    3. Cellular transcription factor ZASC1 regulates murine leukemia virus transcription. Bruce JW, et al. J Virol, 2010 Aug. PMID 20484494, Free PMC Article
    4. ZASC1 stimulates HIV-1 transcription elongation by recruiting P-TEFb and TAT to the LTR promoter. Bruce JW, et al. PLoS Pathog, 2013 Oct. PMID 24204263, Free PMC Article
    5. Nuclear translocation of alphaN-catenin by the novel zinc finger transcriptional repressor ZASC1. Bogaerts S, et al. Exp Cell Res, 2005 Nov 15. PMID 16182284

    See all (27) 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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat ZASC1 interacts with HIV-1 Tat and cellular proteins CDK9/Cyclin T1 (P-TEFb) in a TAR-independent manner, suggesting that the Tat/P-TEFb complex in the transcriptional elongation site is promoted by ZASC1 PubMed
    tat ZASC1, a cellular transcription factor, stimulates HIV-1 Tat-mediated transcription elongation from the HIV-1 promoter in primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation by host of viral transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation by host of viral transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in symbiont entry into host cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 639
    Names
    zinc finger amplified in esophageal squamous cell carcinomas 1

    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_001303425.2 → NP_001290354.1  zinc finger protein 639

      See identical proteins and their annotated locations for NP_001290354.1

      Status: REVIEWED

      Source sequence(s)
      AB097862, AC007823, BC026181, BF799661, BP260931, DB457196
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001303426.2 → NP_001290355.1  zinc finger protein 639

      See identical proteins and their annotated locations for NP_001290355.1

      Status: REVIEWED

      Source sequence(s)
      AB097862, AC007823, BC026181, BP260931, DB457196
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Related
      ENSP00000417740.1, ENST00000496856.6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001375800.1 → NP_001362729.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001375802.1 → NP_001362731.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_001375803.1 → NP_001362732.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Related
      ENSP00000477626.1, ENST00000621687.1
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_001375804.1 → NP_001362733.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_001375805.1 → NP_001362734.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    8. NM_001375806.1 → NP_001362735.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    9. NM_001375807.1 → NP_001362736.1  zinc finger protein 639

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Related
      ENSP00000418766.1, ENST00000484866.5
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    10. NM_016331.3 → NP_057415.1  zinc finger protein 639

      See identical proteins and their annotated locations for NP_057415.1

      Status: REVIEWED

      Source sequence(s)
      AC007823
      Consensus CDS
      CCDS3227.1
      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Related
      ENSP00000325634.3, ENST00000326361.7
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      179322876..179338583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006553.2 → XP_016862042.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_047448258.1 → XP_047304214.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6

    3. XM_017006550.2 → XP_016862039.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
      Conserved Domains (1) summary
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. XM_047448257.1 → XP_047304213.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182126717..182142424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346747.1 → XP_054202722.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6

    2. XM_054346749.1 → XP_054202724.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6

    3. XM_054346746.1 → XP_054202721.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6

    4. XM_054346748.1 → XP_054202723.1  zinc finger protein 639 isoform X1

      UniProtKB/Swiss-Prot
      A9X3Z9, D3DNR3, Q9UID6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UID6.1 GenPept UniProtKB/Swiss-Prot:Q9UID6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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