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

    Gene ID: 127665, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Characterization and evolutionary origin of novel C(2)H(2) zinc finger protein (ZNF648) required for both erythroid and megakaryocyte differentiation in humans. Ferguson DCJ, et al. Haematologica, 2021 Nov 1. PMID 33054117, Free PMC Article
    2. Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes. Qi L, et al. JAMA, 2013 Aug 28. PMID 23982368, Free PMC Article
    3. Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. Leger PD, et al. J Neurovirol, 2014 Jun. PMID 24554482, Free PMC Article
    4. Biological, clinical and population relevance of 95 loci for blood lipids. Teslovich TM, et al. Nature, 2010 Aug 5. PMID 20686565, Free PMC Article
    5. Discovery and refinement of loci associated with lipid levels. Willer CJ, et al. Nat Genet, 2013 Nov. PMID 24097068, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization and evolutionary origin of novel C<sub>2</sub>H<sub>2</sub> zinc finger protein (ZNF648) required for both erythroid and megakaryocyte differentiation in humans.
      Title: Characterization and evolutionary origin of novel C(2)H(2) zinc finger protein (ZNF648) required for both erythroid and megakaryocyte differentiation in humans.
    Submit: New GeneRIF Correction

    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

    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

    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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    Homology

    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
    		  

    General protein information

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    Preferred Names
    zinc finger protein 648

    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_001009992.1 → NP_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:307 → 494
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:294 → 317
      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_024453260.2 → XP_024309028.1  zinc finger protein 648 isoform X1

      UniProtKB/Swiss-Prot
      B2RP16, Q5T619
      Conserved Domains (3) summary
      COG5048
      Location:307 → 494
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:294 → 317
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047445722.1 → XP_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_054334375.1 → XP_054190350.1  zinc finger protein 648 isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T619.1 GenPept UniProtKB/Swiss-Prot:Q5T619

    Gene LinkOut

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

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