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ZNF124 Gene

protein-coding   GIFtS: 52
GCID: GC01M247285

Zinc Finger Protein 124

(Previous name: zinc finger protein 124 (HZF-16))
  See ZNF124-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Zinc Finger Protein 1241 2
Zinc Finger Protein HZF-162 3
Zinc Finger Protein 124 (HZF-16)1
HZF-162
HZF162
ZK72

External Ids:    HGNC: 129071   Entrez Gene: 76782   Ensembl: ENSG000001964187   OMIM: 1946315   UniProtKB: Q159733   
ORGUL members:         

Export aliases for ZNF124 gene to outside databases

Previous GC identifers: GC01P245157 GC01P242540 GC01P243386 GC01M244265 GC01M244098 GC01M243645 GC01M245386 GC01M217713


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZNF124 Gene:
This gene encodes a member of the Kruppel-type (C2H2) zinc finger protein family. It has a KRAB-A box at its amino
terminus and seven consecutively repeated zinc finger motifs at its carboxy terminus. Expression of this gene is
increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and its
expression inhibits apoptotic cell death induced by irradiation or exposure to etoposide. These attributes
suggest that this protein may act as a transcription factor. Alternative splicing results in multiple transcript
variants encoding distinct proteins. Additional transcript variants have been described for this gene but their
biological validity has not been confirmed. This gene has a pseudogene on chromosome 14. (provided by RefSeq, Aug
2011)

GeneCards Summary for ZNF124 Gene:
ZNF124 (zinc finger protein 124) is a protein-coding gene. Diseases associated with ZNF124 include dandy-walker complex. An important paralog of this gene is ZNF177.

UniProtKB/Swiss-Prot: ZN124_HUMAN, Q15973
Function: May be involved in transcriptional regulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZNF124 gene promoter:
         HFH-3   AML1a   NCX/Ncx   AREB6   FOXI1   MEF-2A   HEN1   Msx-1   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNF124 promoter sequence
   Search Chromatin IP Primers for ZNF124

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZNF124


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

ZNF124 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF124 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M247285:  view genomic region     (about GC identifiers)

Start:
247,285,277 bp from pter      End:
247,335,318 bp from pter
Size:
50,042 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for ZNF124

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ZN124_HUMAN, Q15973 (See protein sequence)
Recommended Name: Zinc finger protein 124  
Size: 351 amino acids; 40217 Da
Secondary accessions: B3KNP3 J3KSE1 Q15974 Q4VAJ7 Q5T2V4
Alternative splicing: 5 isoforms:  Q15973-3   Q15973-4   Q15973-1   Q15973-2   Q15973-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF124: NX_Q15973

Explore proteomics data for ZNF124 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZNF124 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001230669.1  NP_003422.2  

    ENSEMBL proteins: 
     ENSP00000462445   ENSP00000463191   ENSP00000340749   ENSP00000440365  
    Reactome Protein details: Q15973

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    4 InterPro protein domains:
     IPR001909 Krueppel-associated_box
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q15973

    ProtoNet protein and cluster: Q15973

    2 Blocks protein domains:
    IPB001909 KRAB box
    IPB007086 C2H2-type zinc finger signature


    UniProtKB/Swiss-Prot: ZN124_HUMAN, Q15973
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 8 C2H2-type zinc fingers
    Similarity: Contains 1 KRAB domain


    Find genes that share domains with ZNF124           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZN124_HUMAN, Q15973
    Function: May be involved in transcriptional regulation

         Genatlas biochemistry entry for ZNF124:
    zinc finger protein 127 (C2H2 type,Kruppel-like),from a hepatoblastoma cell line

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZNF124           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ZNF124

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZN124_HUMAN, Q15973: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    Find genes that share ontologies with ZNF124           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ZNF124 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40


    Find genes that share SuperPaths with ZNF124           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ZNF124
        Generic Transcription Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZNF124
    Interactions:

        Search GeneGlobe Interaction Network for ZNF124

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with ZNF124           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZNF124 (ZN124)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZNF124 gene (2 alternative transcripts): 
    NM_001243740.1  NM_003431.2  

    Unigene Clusters for ZNF124:

    Zinc finger protein 124
    Hs.421238  [show with all ESTs], Hs.655205  [show with all ESTs]
    Unigene Representative Sequences: BG777901, S54641
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472531(uc001ich.3 uc001ici.3) ENST00000476312 ENST00000491356
    ENST00000340684(uc001icj.1) ENST00000543802(uc001ick.3) ENST00000491848

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    Additional mRNA sequence: S54641.1 

    5 DOTS entries:

    DT.95264037  DT.99949212  DT.207536  DT.91919497  DT.121463197 

    Selected AceView cDNA sequences (see all 33):

    AK131017 BX951708 AA873762 AA868224 AW137277 AI024680 AW197626 AA629263 
    NM_003431 AK054647 S54641 BC013605 AI638722 BX107933 BG257604 AA393367 
    BM791773 AI014542 BI767963 AW615127 BX477982 AA744900 T28214 AW265546 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF124    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e · 4f
    SP1:                          -                 -                                 
    SP2:                                            -                                 
    SP3:                          -                 -     -                           
    SP4:                          -                                                   


    ECgene alternative splicing isoforms for ZNF124

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZNF124 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTCTGCA
    ZNF124 Expression
    About this image

    ZNF124 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZNF124 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.421238 Hs.655205
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZNF124 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia LOC1026371111 zinc finger protein 120-like 70.66(n)
    59.93(a)
      102637111  XM_006525234.1  XP_006525297.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    33(a)
    1 → many
    GL344882.1(1643-15461)
    zebrafish
    (Danio rerio)
    Actinopterygii ZNF5576
    zinc finger protein 557
    32(a)
    1 → many
    15(997733-1002447) ENSDARG00000097394


    ENSEMBL Gene Tree for ZNF124 (if available)
    TreeFam Gene Tree for ZNF124 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZNF124 gene
    ZNF1772  ZNF5572  ZNF3332  ZNF3172  ZNF8912  ZNF559-ZNF1772  ZNF5582  
    Selected SIMAP similar genes for ZNF124 using alignment to 2 protein entries:     ZN124_HUMAN (see all proteins) (see all similar genes):
    ZNF625-ZNF20    ZNF761    LOC101928664    ZNF846    ZNF669    ZNF229
    ZNF235    ZNF625    ZNF83    FIK    ZNF208    ZNF224
    ZNF225    ZNF320    ZNF527    ZNF624    ZNF573    ZNF616

    Find genes that share paralogs with ZNF124           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for ZNF124
    PGOHUM00000248166 PGOHUM00000263153 PGOHUM00000249257


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZNF124 (see all 1192)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819482601,2
    --247284815(+) ATTTAG/TTCTGC 1 -- ds50010--------
    rs66800331,2
    C,F,A--247285021(+) CTCCCG/AGGTTC 1 -- ds50014Minor allele frequency- A:0.43NA WA CSA 7
    rs2015567491,2
    C--247285029(+) TTCTA-/GCAATT 1 -- ds50010--------
    rs574187901,2
    C,F--247285040(+) CTCCTG/CCCTCA 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs49257011,2
    C,F,A--247285147(+) AGTCTT/CGAACT 1 -- ds50013Minor allele frequency- C:0.17NA WA 6
    rs49257021,2
    C,A--247285155(+) ACTCCC/TGAGCT 1 -- ds50010--------
    rs571734931,2
    F--247285223(+) GTGCCC/TAGTGA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs49257031,2
    C,F,A,H--247285224(+) TGCCCA/GGTGAC 1 -- ds500119Minor allele frequency- G:0.30NS EA NA WA CSA 2339
    rs783380391,2
    F--247285239(+) AGTTTT/CCTCTG 1 -- ds50011Minor allele frequency- C:0.12WA 118
    rs1874125121,2
    --247285286(+) TAATAC/TTCATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ZNF124 (247285277 - 247335318 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ZNF124 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1201683CNV Deletion17803354
    nsv821373CNV Deletion20802225
    esv2675826CNV Deletion23128226
    esv2727651CNV Deletion23290073
    esv2727640CNV Deletion23290073
    esv2727629CNV Deletion23290073
    esv2727662CNV Deletion23290073
    esv2727673CNV Deletion23290073
    nsv5287CNV Insertion18451855
    nsv509779CNV Insertion20534489

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 194631    OMIM disorders: --

    1 disease for ZNF124:    
    About MalaCards
    dandy-walker complex


    Find genes that share disorders with ZNF124           About GenesLikeMe

    Genetic Association Database (GAD): ZNF124

    Export disorders for ZNF124 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ZNF124 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with ZNF124)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel zinc finger gene on human chromosome 1qter that is alternatively spliced in human tissues and cell lines. (PubMed id 7916577)1, 2, 3 Saleh M.... Evans G.A. (Am. J. Hum. Genet. 1993)
    2. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. (PubMed id 21314694)1, 4 Kendler K.S....Gejman P.V. (Alcohol. Clin. Exp. Res. 2011)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. A whole genome screen for HIV restriction factors. (PubMed id 22082156)1 Liu L....McKnight A. (Retrovirology 2011)
    8. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    9. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). (PubMed id 17431901)1 Poot M....Hochstenbach R. (Am. J. Med. Genet. A 2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7678 HGNC: 12907 AceView: ZNF124 Ensembl:ENSG00000196418 euGenes: HUgn7678
    ECgene: ZNF124 H-InvDB: ZNF124

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ZNF124 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZNF124 gene:
    Search GeneIP for patents involving ZNF124

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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