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    ZNF648 zinc finger protein 648 [ Homo sapiens (human) ]

    Gene ID: 127665, updated on 27-Nov-2024

    Summary

    Official Symbol
    ZNF648provided by HGNC
    Official Full Name
    zinc finger protein 648provided by HGNC
    Primary source
    HGNC:HGNC:18190
    See related
    Ensembl:ENSG00000179930 AllianceGenome:HGNC:18190
    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 cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ZNF648 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182054570..182069646, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181409936..181425377, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182023705..182030847, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 229 Neighboring gene Sharpr-MPRA regulatory region 5358 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:181889418-181889626 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:181960367-181960534 Neighboring gene uncharacterized LOC105371640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182025348-182025878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2196 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:182070081-182070851 Neighboring gene uncharacterized LOC105371642 Neighboring gene Sharpr-MPRA regulatory region 10342 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:182112509-182112685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182112694-182113362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182113363-182114030 Neighboring gene YPEL5 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    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_001009992.1NP_001009992.1  zinc finger protein 648

      See identical proteins and their annotated locations for NP_001009992.1

      Status: VALIDATED

      Source sequence(s)
      AL355482
      Consensus CDS
      CCDS30952.1
      UniProtKB/Swiss-Prot
      B2RP16, Q5T619
      Related
      ENSP00000344129.3, ENST00000339948.3
      Conserved Domains (3) summary
      COG5048
      Location:307494
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:294317
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      182054570..182069646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453260.2XP_024309028.1  zinc finger protein 648 isoform X1

      UniProtKB/Swiss-Prot
      B2RP16, Q5T619
      Conserved Domains (3) summary
      COG5048
      Location:307494
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:294317
      zf-H2C2_2; Zinc-finger double domain
    2. XM_047445722.1XP_047301678.1  zinc finger protein 648 isoform X1

      UniProtKB/Swiss-Prot
      B2RP16, Q5T619

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      181409936..181425377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334375.1XP_054190350.1  zinc finger protein 648 isoform X1

    2. XM_054334374.1XP_054190349.1  zinc finger protein 648 isoform X1