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

Gene ID: 127665, updated on 11-Sep-2019

Summary

Official Symbol
ZNF648provided by HGNC
Official Full Name
zinc finger protein 648provided by HGNC
Primary source
HGNC:HGNC:18190
See related
Ensembl:ENSG00000179930
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
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See ZNF648 in Genome Data Viewer
Location:
1q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (182053740..182081725, complement)
105 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 Sharpr-MPRA regulatory region 5358 Neighboring gene uncharacterized LOC105371640 Neighboring gene uncharacterized LOC105371642 Neighboring gene uncharacterized LOC107985233

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

NHGRI GWAS Catalog

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

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    182053740..182081725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453258.1XP_024309026.1  zinc finger protein 648 isoform X1

    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_024453260.1XP_024309028.1  zinc finger protein 648 isoform X1

    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
  3. XM_024453263.1XP_024309031.1  zinc finger protein 648 isoform X1

    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

RNA

  1. XR_002959366.1 RNA Sequence

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