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    ZNF496 zinc finger protein 496 [ Homo sapiens (human) ]

    Gene ID: 84838, updated on 17-Sep-2024

    Summary

    Official Symbol
    ZNF496provided by HGNC
    Official Full Name
    zinc finger protein 496provided by HGNC
    Primary source
    HGNC:HGNC:23713
    See related
    Ensembl:ENSG00000162714 MIM:613911; AllianceGenome:HGNC:23713
    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
    NIZP1; ZFP496; ZSCAN49; ZKSCAN17
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein self-association. Predicted to be involved in positive regulation of transcription, DNA-templated and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZNF496 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247297415..247331867, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246730535..246764981, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247460717..247495169, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 5 (gene/pseudogene) Neighboring gene uncharacterized LOC105373273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247453849-247454367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247462225-247463124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247463125-247464023 Neighboring gene NANOG hESC enhancer GRCh37_chr1:247485935-247486439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:247492160-247492662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2044 Neighboring gene Sharpr-MPRA regulatory region 5917 Neighboring gene Sharpr-MPRA regulatory region 7964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:247499115-247499615 Neighboring gene uncharacterized LOC124904574 Neighboring gene Sharpr-MPRA regulatory region 1744 Neighboring gene ZNF496 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:247525936-247526480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2047 Neighboring gene uncharacterized LOC107985375 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247556143-247556425

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC15548

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription 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
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    zinc finger protein 496
    Names
    NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1
    zinc finger protein with KRAB and SCAN domains 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001329733.2NP_001316662.1  zinc finger protein 496 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC104335
      Conserved Domains (2) summary
      cd07765
      Location:222259
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      pfam02023
      Location:50126
      SCAN; SCAN domain
    2. NM_032752.3NP_116141.1  zinc finger protein 496 isoform 1

      See identical proteins and their annotated locations for NP_116141.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104335, BC007263, BC025794, BU740940, HY023128
      Consensus CDS
      CCDS1631.1
      UniProtKB/Swiss-Prot
      Q8TBS2, Q96IT1
      UniProtKB/TrEMBL
      A0A0C4DGR5
      Related
      ENSP00000507236.1, ENST00000682384.1
      Conserved Domains (6) summary
      cd07765
      Location:222259
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:223275
      KRAB; krueppel associated box
      COG5048
      Location:427586
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:408428
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:463485
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:50126
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      247297415..247331867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791757.1 Reference GRCh38.p14 PATCHES

      Range
      63858..98310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      246730535..246764981 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)