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    ZSCAN1 zinc finger and SCAN domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 284312, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZSCAN1provided by HGNC
    Official Full Name
    zinc finger and SCAN domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23712
    See related
    Ensembl:ENSG00000152467 MIM:620026; AllianceGenome:HGNC:23712
    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
    MZF-1; ZNF915
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ZSCAN1 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58034025..58056502)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61130974..61155728)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58545393..58565999)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15175 Neighboring gene ZNF606 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15177 Neighboring gene vomeronasal 2 receptor 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 748 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 2 Neighboring gene HNRNPDL pseudogene 4 Neighboring gene zinc finger protein 135 Neighboring gene RNA, 7SL, cytoplasmic 526, pseudogene

    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. ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD. Mandel-Brehm C, et al. Ann Neurol, 2022 Aug. PMID 35466441, Free PMC Article
    2. A systematic screen for CDK4/6 substrates links FOXM1 phosphorylation to senescence suppression in cancer cells. Anders L, et al. Cancer Cell, 2011 Nov 15. PMID 22094256, Free PMC Article
    3. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
    4. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, 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 (19) 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)

    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

    • FLJ33779, MGC104472

    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 factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    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 chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and SCAN domain-containing protein 1
    Names
    zinc finger with SCAN domain 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_182572.4 → NP_872378.3  zinc finger and SCAN domain-containing protein 1

      See identical proteins and their annotated locations for NP_872378.3

      Status: VALIDATED

      Source sequence(s)
      AC008751, AC008969
      Consensus CDS
      CCDS12969.1
      UniProtKB/Swiss-Prot
      Q3B798, Q6WLH8, Q86WS8, Q8NBB4
      Related
      ENSP00000282326.1, ENST00000282326.6
      Conserved Domains (3) summary
      sd00017
      Location:294 → 314
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:35 → 122
      SCAN; SCAN domain
      pfam13465
      Location:306 → 331
      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
      58034025..58056502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723149.3 → XP_006723212.1  zinc finger and SCAN domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006723212.1

      Conserved Domains (3) summary
      sd00017
      Location:334 → 354
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:75 → 162
      SCAN; SCAN domain
      pfam13465
      Location:346 → 371
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047438630.1 → XP_047294586.1  zinc finger and SCAN domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61130974..61155728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320590.1 → XP_054176565.1  zinc finger and SCAN domain-containing protein 1 isoform X2

    2. XM_054320589.1 → XP_054176564.1  zinc finger and SCAN domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBB4.2 GenPept UniProtKB/Swiss-Prot:Q8NBB4

    Gene LinkOut

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

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