ZFHX3 (AT-binding transcription factor 1)
2003-10-01 Nadine Van Roy , Frank Speleman AffiliationCenter for Medical Genetics, Ghent University Hospital, 1K5, De Pintelaan 185, B-9000 Gent, Belgium
Identity
HGNC
LOCATION
16q22.2
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
ATBF1,ATBT,C16orf47,ZFH-3,ZNF927
FUSION GENES
DNA/RNA
Description
10 exons, DNA size: 261.32 kb.
Transcription
two isoforms ATBF1-A and ATBF1-B, due to alternative promotor usage combined with alternative splicing, mRNA-size: 11893 bp.
Proteins
Description
3703 amino acids; 404 kDa; four homeodomains and 23 zinc fingers including 1 pseudo zinc finger motif, one DEAD and one DEAH box, a RNA and an ATP binding site, two large RS domains and multiple phosphorylation sites.
Expression
Embryonic and neonatal brain.
Localisation
nuclear
Function
Transcription factor that binds to the AT-rich core sequence of the enhancer element of the AFP gene and downregulates AFP gene expression, possibly involved in neuronal differentiation (ATBF1-A).
Homology
mouse atbf1, drosophila zfh2 and C. Elegans ZC 123.3
Mutations
Somatic
Amplification, in one early neural crest derived cell line SJNB-12 under the form of extrachromosomally double minutes, non-syntenic co-amplification with MYC.
Absence of ATBF1 expression in alpha-fetoprotein expressing gastric cancer cell lines, lack of ATBF1 expression not due to mutation, deletion or translocation but to strong repression at the transcriptional level.
Absence of ATBF1 expression in alpha-fetoprotein expressing gastric cancer cell lines, lack of ATBF1 expression not due to mutation, deletion or translocation but to strong repression at the transcriptional level.
Implicated in
Disease
Early neural crest derived cell line (SJNB-12).
Prognosis
unknown
Cytogenetics
Several structural and numerical chromosomal aberrations and presence of extrachromosomally double minutes and homogenously staining regions, presence of a reciprocal unbalanced t(8;16)(q24.3;q22.3).
Oncogenesis
Amplification in one neural crest derived cell line (SJNB-12), non-syntenic co-amplification with MYC.
Disease
Alpha-fetoprotein producing gastric cancer cell lines (GCIY and Ist-I).
Prognosis
poor (very malignant and highly metastatic cancer)
Oncogenesis
Alpha-fetoprotein producing cancer cell lines show absence of ATBF1 expression, lack of ATBF1 expression not due to deletion mutation or translocation but to strong repression at the transcriptional level.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11312261 | 2001 | Positive and negative regulation of myogenic differentiation of C2C12 cells by isoforms of the multiple homeodomain zinc finger transcription factor ATBF1. | Berry FB et al |
| 9034713 | 1997 | Regulation and activities of alpha-fetoprotein. | Chen H et al |
| 12926016 | 2003 | ATBF1-A protein, but not ATBF1-B, is preferentially expressed in developing rat brain. | Ishii Y et al |
| 10318867 | 1999 | Myb-interacting protein, ATBF1, represses transcriptional activity of Myb oncoprotein. | Kaspar P et al |
| 10623580 | 2000 | AT motif binding factor 1-A (ATBF1-A) negatively regulates transcription of the aminopeptidase N gene in the crypt-villus axis of small intestine. | Kataoka H et al |
| 11314020 | 2001 | Alpha-fetoprotein producing gastric cancer lacks transcription factor ATBF1. | Kataoka H et al |
| 10855793 | 2000 | Characterization of trinucleotide- and tandem repeat-containing transcripts obtained from human spinal cord cDNA library by high-density filter hybridization. | Kaushik N et al |
| 11755205 | 2001 | DNA/RNA-dependent ATPase activity is associated with ATBF1, a multiple homeodomain-zinc finger protein. | Kawaguchi M et al |
| 11812077 | 2002 | Expression of homeobox genes in cervical cancer. | Li H et al |
| 7592926 | 1995 | Cloning and characterization of an ATBF1 isoform that expresses in a neuronal differentiation-dependent manner. | Miura Y et al |
| 1719379 | 1991 | A human alpha-fetoprotein enhancer-binding protein, ATBF1, contains four homeodomains and seventeen zinc fingers. | Morinaga T et al |
| 11786962 | 2002 | Regulation of the alpha-fetoprotein gene by the isoforms of ATBF1 transcription factor in human hepatoma. | Ninomiya T et al |
| 11004489 | 2000 | Cloning and characterization of a novel RNA-binding protein SRL300 with RS domains. | Sawada Y et al |
| 8588896 | 1995 | Automated fluorescent dye-terminator sequencing of G+C-rich tracts with the aid of dimethyl sulfoxide. | Scheidl TM et al |
| 8827889 | 1996 | [ZFH/ATBF1 gene family: transcription factors containing both homeo- and zinc finger-domains]. | Tamaoki T et al |
| 11550280 | 2001 | Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines. | Van Roy N et al |
| 9013792 | 1996 | Developmental changes in expression of the ATBF1 transcription factor gene. | Watanabe M et al |
| 8666409 | 1995 | Assignment of the human ATBF1 transcription factor gene to chromosome 16q22.3-q23.1. | Yamada K et al |
| 7507206 | 1994 | ATBF1, a multiple-homeodomain zinc finger protein, selectively down-regulates AT-rich elements of the human alpha-fetoprotein gene. | Yasuda H et al |
Other Information
Locus ID:
NCBI: 463
MIM: 104155
HGNC: 777
Ensembl: ENSG00000140836
Variants:
dbSNP: 463
ClinVar: 463
TCGA: ENSG00000140836
COSMIC: ZFHX3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000140836 | ENST00000268489 | Q15911 |
| ENSG00000140836 | ENST00000397992 | Q15911 |
| ENSG00000140836 | ENST00000641206 | Q15911 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | KEGG | hsa04550 |
| Signaling pathways regulating pluripotency of stem cells | KEGG | ko04550 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38035881 | 2024 | Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. | 2 |
| 38197134 | 2024 | Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4. | 0 |
| 38227369 | 2024 | Myeloid Zfhx3 deficiency protects against hypercapnia-induced suppression of host defense against influenza A virus. | 0 |
| 38412861 | 2024 | Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. | 0 |
| 38508705 | 2024 | ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes. | 0 |
| 38035881 | 2024 | Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. | 2 |
| 38197134 | 2024 | Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4. | 0 |
| 38227369 | 2024 | Myeloid Zfhx3 deficiency protects against hypercapnia-induced suppression of host defense against influenza A virus. | 0 |
| 38412861 | 2024 | Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. | 0 |
| 38508705 | 2024 | ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes. | 0 |
| 36800142 | 2023 | Influence of ZFHX3 Polymorphisms on the Risk of Ischemic Stroke in Chinese Han Population. | 1 |
| 37449401 | 2023 | Loss of the Atrial Fibrillation-Related Gene, Zfhx3, Results in Atrial Dilation and Arrhythmias. | 4 |
| 36800142 | 2023 | Influence of ZFHX3 Polymorphisms on the Risk of Ischemic Stroke in Chinese Han Population. | 1 |
| 37449401 | 2023 | Loss of the Atrial Fibrillation-Related Gene, Zfhx3, Results in Atrial Dilation and Arrhythmias. | 4 |
| 34953044 | 2022 | AR imposes different effects on ZFHX3 transcription depending on androgen status in prostate cancer cells. | 3 |
Citation
Nadine Van Roy ; Frank Speleman
ZFHX3 (AT-binding transcription factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/357/zfhx3
