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

Gene ID: 127665, updated on 10-Dec-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, Dec 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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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
  • 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)

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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