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

Gene ID: 10153, updated on 5-Mar-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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Location:
2p22.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37201612..37231596, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37208702..37238637, complement)
105.20220307 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. 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
  3. 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
  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 (103) 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)

Genotypes

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 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_2023_10

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

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