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    CEBPZ CCAAT enhancer binding protein zeta [ Homo sapiens (human) ]

    Gene ID: 10153, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEBPZprovided by HGNC
    Official Full Name
    CCAAT enhancer binding protein zetaprovided by HGNC
    Primary source
    HGNC:HGNC:24218
    See related
    Ensembl:ENSG00000115816 MIM:612828; AllianceGenome:HGNC:24218
    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
    CBF; CBF2; NOC1; HSP-CBF
    Summary
    This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]
    Annotation information
    Note: CEBPZ (Gene ID: 10153) and DDIT3 (Gene ID: 1649) share the CEBPZ symbol/alias. CEBPZ is a widely used alternative name for DNA damage inducible transcript 3 (DDIT3), which can be confused with the official symbol for CEBPZ (CCAAT enhancer binding protein zeta, GeneID: 10153). [12 Nov 2020]
    Expression
    Ubiquitous expression in testis (RPKM 27.1), adrenal (RPKM 18.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEBPZ in Genome Data Viewer
    Location:
    2p22.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37201612..37231596, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37208702..37238637, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37428755..37458739, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11354 Neighboring gene ARL14EP pseudogene 1 Neighboring gene sulfotransferase family 6B member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:37416294-37416819 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:37416820-37417344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11355 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:37431745-37432548 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:37432549-37433353 Neighboring gene ribosomal protein L31 pseudogene 16 Neighboring gene CEBPZ opposite strand Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:37441863-37443062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:37453022-37453626 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:37458084-37459283 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 7 Neighboring gene protein kinase D3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11356 Neighboring gene PRKD3 divergent transcript

    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. Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis. Herold T, et al. Blood, 2014 Aug 21. PMID 24923295
    2. A cloned human CCAAT-box-binding factor stimulates transcription from the human hsp70 promoter. Lum LS, et al. Mol Cell Biol, 1990 Dec. PMID 2247079, Free PMC Article
    3. HSP-CBF is an NF-Y-dependent coactivator of the heat shock promoters CCAAT boxes. Imbriano C, et al. J Biol Chem, 2001 Jul 13. PMID 11306579
    4. LAP, a lymphocyte activation gene-3 (LAG-3)-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3, may participate in the down-regulation of the CD3/TCR activation pathway. Iouzalen N, et al. Eur J Immunol, 2001 Oct. PMID 11592063
    5. Physical interaction of tumour suppressor p53/p73 with CCAAT-binding transcription factor 2 (CTF2) and differential regulation of human high-mobility group 1 (HMG1) gene expression. Uramoto H, et al. Biochem J, 2003 Apr 15. PMID 12534345, Free PMC Article

    See all (119) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mouse and Human CCAAT binding factors are discussed in this citation.
      Title: Cloning and characterization of mouse CCAAT binding factor.
    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
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of CCAAT-binding factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    CCAAT/enhancer-binding protein zeta
    Names
    CCAAT-binding transcription factor 2
    CCAAT-box-binding transcription factor
    CCAAT/enhancer binding protein (C/EBP), zeta
    CCAAT/enhancer binding protein cebp family zeta

    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.

    Genomic

    1. NG_050962.1 RefSeqGene

      Range
      5002..34986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005760.3 → NP_005751.2  CCAAT/enhancer-binding protein zeta

      See identical proteins and their annotated locations for NP_005751.2

      Status: REVIEWED

      Source sequence(s)
      AC007390, BC034475
      Consensus CDS
      CCDS1787.1
      UniProtKB/Swiss-Prot
      Q03701, Q8NE75
      UniProtKB/TrEMBL
      B2R5U7
      Related
      ENSP00000234170.5, ENST00000234170.10
      Conserved Domains (3) summary
      COG5593
      Location:157 → 988
      COG5593; Nucleic-acid-binding protein possibly involved in ribosomal biogenesis [Translation, ribosomal structure and biogenesis]
      pfam03914
      Location:523 → 731
      CBF; CBF/Mak21 family
      cl17018
      Location:273 → 449
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      37201612..37231596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      37208702..37238637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03701.3 GenPept UniProtKB/Swiss-Prot:Q03701

    Gene LinkOut

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

    Chemical Information
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