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    ZNF700 zinc finger protein 700 [ Homo sapiens (human) ]

    Gene ID: 90592, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZNF700provided by HGNC
    Official Full Name
    zinc finger protein 700provided by HGNC
    Primary source
    HGNC:HGNC:25292
    See related
    Ensembl:ENSG00000196757 AllianceGenome:HGNC:25292
    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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 8.1), bone marrow (RPKM 7.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF700 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11925107..11950763)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12053315..12078973)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12035922..12061578)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 69 Neighboring gene zinc finger protein 440-like Neighboring gene vomeronasal 2 receptor 15 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12033828-12034618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12034619-12035408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12035565-12036137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10135 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:12060504-12060733 Neighboring gene vomeronasal 2 receptor 21 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12074983-12075936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10136 Neighboring gene zinc finger protein 763

    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. Diagnostic potential of zinc finger protein-specific autoantibodies and associated linear B-cell epitopes in colorectal cancer. O'Reilly JA, et al. PLoS One, 2015. PMID 25875936, Free PMC Article
    2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High ZNF700 expression is associated with colorectal cancer.
      Title: Diagnostic potential of zinc finger protein-specific autoantibodies and associated linear B-cell epitopes in colorectal 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)

    General gene information

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    Markers

    Potential readthrough

    Included gene: ZNF763

    Homology

    Clone Names

    • DKFZp434I1610

    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 transcription 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 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
    		  

    General protein information

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    Preferred Names
    zinc finger protein 700

    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_001271848.2 → NP_001258777.1  zinc finger protein 700 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AL136732, DA794204, DB013169
      Consensus CDS
      CCDS74289.1
      UniProtKB/TrEMBL
      A0A087WVH9
      Related
      ENSP00000479449.1, ENST00000622593.4
      Conserved Domains (5) summary
      smart00349
      Location:27 → 69
      KRAB; krueppel associated box
      COG5048
      Location:224 → 636
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:569 → 589
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:27 → 66
      KRAB; KRAB box
      pfam13465
      Location:581 → 606
      zf-H2C2_2; Zinc-finger double domain

    2. NM_144566.3 → NP_653167.1  zinc finger protein 700 isoform 1

      See identical proteins and their annotated locations for NP_653167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AL136732
      Consensus CDS
      CCDS32915.1
      UniProtKB/Swiss-Prot
      B9EGU4, Q9H0M5
      Related
      ENSP00000254321.4, ENST00000254321.10
      Conserved Domains (5) summary
      smart00349
      Location:24 → 66
      KRAB; krueppel associated box
      COG5048
      Location:221 → 633
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:566 → 586
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 63
      KRAB; KRAB box
      pfam13465
      Location:578 → 603
      zf-H2C2_2; Zinc-finger double 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
      11925107..11950763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12053315..12078973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001271847.1: Suppressed sequence

      Description
      NM_001271847.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0M5.1 GenPept UniProtKB/Swiss-Prot:Q9H0M5

    Gene LinkOut

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

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