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    ZNF124 zinc finger protein 124 [ Homo sapiens (human) ]

    Gene ID: 7678, updated on 5-May-2013
    Official Symbol
    ZNF124provided by HGNC
    Official Full Name
    zinc finger protein 124provided by HGNC
    Primary source
    HGNC:12907
    Locus tag
    RP11-488L18.2
    See related
    Ensembl:ENSG00000196418; HPRD:01936; MIM:194631; Vega:OTTHUMG00000041112
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZK7; HZF16; HZF-16
    Summary
    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]
    Location :
    1q44
    Sequence :
    Chromosome: 1; NC_000001.10 (247285277..247335318, complement)
    See ZNF124 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 229 Neighboring gene fibroblast growth factor receptor 3 pseudogene 6 Neighboring gene peroxisomal biogenesis factor 5 pseudogene Neighboring gene vomeronasal 1 receptor 16 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.
    2. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. Kendler KS, et al. Alcohol Clin Exp Res, 2011 May. PMID 21314694.
    3. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.
    4. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Poot M, et al. Am J Med Genet A, 2007 May 15. PMID 17431901.
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414.

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:113476 BioGRID:204197 Trim28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113476 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC117046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    zinc finger protein 124
    Names
    zinc finger protein 124
    zinc finger protein HZF-16

    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.

    Genomic

    1. NG_029824.1 RefSeqGene

      Range
      5001..55042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243740.1 → NP_001230669.1  zinc finger protein 124 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1, that results in a shorter protein (isoform 2) with a distinct C-terminus that lacks zinc finger domains, compared to isoform 1.
      Source sequence(s)
      AK054647, BC032514, DA610013
      Consensus CDS
      CCDS58067.1
      UniProtKB/TrEMBL
      J3KSE1
      UniProtKB/Swiss-Prot
      Q15973
      Related
      ENSP00000462445, OTTHUMP00000261997, ENST00000472531, OTTHUMT00000098570
      Conserved Domains (2) summary
      cd07765
      Location:13 – 52
      Blast Score: 187
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:13 – 55
      Blast Score: 206
      KRAB; krueppel associated box

    2. NM_003431.2 → NP_003422.2  zinc finger protein 124 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK054647
      Consensus CDS
      CCDS31089.1
      UniProtKB/Swiss-Prot
      Q15973
      Related
      ENSP00000340749, OTTHUMP00000038603, ENST00000340684, OTTHUMT00000098573
      Conserved Domains (4) summary
      COG5048
      Location:58 – 241
      Blast Score: 92
      COG5048; FOG: Zn-finger [General function prediction only]
      cd07765
      Location:13 – 52
      Blast Score: 205
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box.
      smart00349
      Location:13 – 55
      Blast Score: 223
      KRAB; krueppel associated box
      pfam13465
      Location:130 – 155
      Blast Score: 92
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 Primary Assembly

      Range
      247285277..247335318, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      217679688..217729123, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      254079052..254129102, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01031781.1 (3126..38617) None
    genomic ABBA01031782.1 None
    genomic AL390728.37 (12086..62127) None
    genomic AMYH01001909.1 (27796..32330) None
    genomic AMYH01001910.1 None
    genomic CH471148.1 EAW77169.1
    mRNA AK054647.1 BAG51405.1
    mRNA AK131017.1 None
    mRNA BC013605.1 None
    mRNA BC032514.1 None
    mRNA BC096349.4 AAH96349.1
    mRNA BC096350.4 AAH96350.1
    mRNA BC096351.2 AAH96351.1
    mRNA BC099661.3 AAH99661.1
    mRNA DA610013.1 None
    mRNA S54641.1 AAB25346.1
      AAB25347.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15973.2 GenPept UniProtKB/Swiss-Prot:Q15973

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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