ZBED1

Last updated
ZBED1
Protein ZBED1 PDB 2ct5.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases ZBED1 , ALTE, DREF, TRAMP, hDREF, zinc finger BED-type containing 1
External IDs OMIM: 300178 HomoloGene: 123965 GeneCards: ZBED1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004729
NM_001171135
NM_001171136

n/a

RefSeq (protein)

NP_001164606
NP_001164607
NP_004720

n/a

Location (UCSC) Chr X: 2.49 – 2.5 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

Full Name: Zinc finger BED domain-containing protein 1 is a protein that in humans is encoded by the ZBED1 gene. [3] [4] [5]

Contents

ZBED1 regulates the expression of several genes involved in cell proliferation, color remodeling, protein metabolism, and other genes involved in cell proliferation and differentiation. [6]

At one point in time ZBED1 was confused to be a gene similar to Ac transposable elements, but was later changed as transposes activity was not found. [7]

Function

ZBED1 is located in the pseudoautosomal region 1(PAR) of the X and Y chromosome. ZBED1 is a gene that has a localization in the nucleus and has properties that help it function as a transcription factor as it is able to bind with DNA elements. These Elements can be found in regions that have promoters with several genes in relation to any cell proliferation. Histone H1 being one, at times has the opportunity to regulate genes that are related to cell proliferation. ZBED1 has been found to also have spliced transcript variants that have numerous types of 5' untranslated regions. [7]

Structure

Released images from November 23 in 2005 show the solution structure of the sink finger Bed domain of ZBED1. Having a deposited structure of PDB entry 2ct5 the structure is colored with a chain and is shown from a forward angle. Each side of the structure was also able to. show the copy of the ZINC ion. [8]

ZBED1 has a multi metric state that appears to be monomeric. This shows how the energy and binding statistics are not able to work and function properly for this current assembly. In addition to its macromolecules is it evident that this is considered to be an A Chain. Holding a wide length of 73 amino acids and a theoretical weight of 8.07 KDa. However, there was no provided information for ZBED1's expression system. ZBED1's source organisms was pronounced to be Homo sapiens (Human). Homo sapiens (Human) function as almost ubiquitin-like modifier ligase that then is responsible for sumoylates CHD3/Mi2-alpha that is set to release DNA. RNA polymerase II also had a regulation increase of gene promoters and regulations of transcription that are positive. These all also include H1-5 ribosomal proteins and are listed as RPS6, RPL10A, and RPL12. [9]

Gene Cards shows the three demential structure of ZBED1 in a variety of colors those being navy blue, sky blue, yellow, orange and green. All three dimensional structures having either a representative or predicted gene of ZEBD1. This being known as PDB and AlphaFold. These all being listed from very high to very low model confidence. At very high being Navy blue with a (pLDDT > 90). Sky blue being labeled to have a confident model confidence of 90 > pLDDT > 70. Yellow having a model confidence 70 > pLDDT > 50 and Orange having a model confidence being at very low with pLDDT < 50. [7]

Clininical significance

ZBED1 is associated with two diseases those being fibrosclerosis of breast and Sotos Syndrome. Fibrosclerosis of Breast being heavily related to breast disease and non-proliferative fibrocystic change of the best. However, other compatible disease that are also related diseases include; breast cancer, mastitis, gynecomastia, breast fibroadenoma, papilloma, diabetic mast-patchy, vascular disease, and systemic scleroderma. All diseases ranging with scores 10.0 to 9.7 and non-proliferative fibrocystic that changes the breast having the highest affiliating gene. This disease is known to be a non-proliferative fibrocystic that changes the breast as a result of containing scar tissue. [10] Sotos Syndrome is globally known as a genetic disease, rare disease and in some cases fetal disease. Sotos syndrome has a large relatedness to many other disease these being; overgrowth syndrome, Sotos syndrome 2, normokalemic periodic paralysis, tremor, hereditary essential, hypokalemic periodic paralysis (type 2), (myotonia, potassium-aggravated), (myotonia), (myasthenia syndrome, congenital,16), torticollis. All rating with scores that vary from 31.6 being the highest to 10.2 being the lowest (left to right). [11]

Related Research Articles

<span class="mw-page-title-main">Sex-determining region Y protein</span> Protein that initiates male sex determination in therian mammals

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

<span class="mw-page-title-main">Estrogen receptor</span> Proteins activated by the hormone estrogen

Estrogen receptors (ERs) are a group of proteins found inside cells. They are receptors that are activated by the hormone estrogen (17β-estradiol). Two classes of ER exist: nuclear estrogen receptors, which are members of the nuclear receptor family of intracellular receptors, and membrane estrogen receptors (mERs), which are mostly G protein-coupled receptors. This article refers to the former (ER).

HMGN proteins are members of the broader class of high mobility group (HMG) chromosomal proteins that are involved in regulation of transcription, replication, recombination, and DNA repair.

<span class="mw-page-title-main">GATA1</span> Protein-coding gene in humans

GATA-binding factor 1 or GATA-1 is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in both species.

<span class="mw-page-title-main">Mothers against decapentaplegic homolog 3</span> Protein-coding gene in humans

Mothers against decapentaplegic homolog 3 also known as SMAD family member 3 or SMAD3 is a protein that in humans is encoded by the SMAD3 gene.

<span class="mw-page-title-main">RUNX2</span> Protein-coding gene in humans

Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the RUNX2 gene. RUNX2 is a key transcription factor associated with osteoblast differentiation.

<span class="mw-page-title-main">Ki-67 (protein)</span> Mammalian protein found in humans

Antigen Kiel 67, also known as Ki-67 or MKI67, is a protein that in humans is encoded by the MKI67 gene.

Chromatin remodeling is the dynamic modification of chromatin architecture to allow access of condensed genomic DNA to the regulatory transcription machinery proteins, and thereby control gene expression. Such remodeling is principally carried out by 1) covalent histone modifications by specific enzymes, e.g., histone acetyltransferases (HATs), deacetylases, methyltransferases, and kinases, and 2) ATP-dependent chromatin remodeling complexes which either move, eject or restructure nucleosomes. Besides actively regulating gene expression, dynamic remodeling of chromatin imparts an epigenetic regulatory role in several key biological processes, egg cells DNA replication and repair; apoptosis; chromosome segregation as well as development and pluripotency. Aberrations in chromatin remodeling proteins are found to be associated with human diseases, including cancer. Targeting chromatin remodeling pathways is currently evolving as a major therapeutic strategy in the treatment of several cancers.

<span class="mw-page-title-main">ETV4</span> Protein-coding gene in the species Homo sapiens

ETS translocation variant 4 (ETV4), also known as polyoma enhancer activator 3 (PEA3), is a member of the PEA3 subfamily of Ets transcription factors.

<span class="mw-page-title-main">Flap structure-specific endonuclease 1</span> Protein-coding gene in the species Homo sapiens

Flap endonuclease 1 is an enzyme that in humans is encoded by the FEN1 gene.

<span class="mw-page-title-main">GATA3</span> Protein-coding gene in the species Homo sapiens

GATA3 is a transcription factor that in humans is encoded by the GATA3 gene. Studies in animal models and humans indicate that it controls the expression of a wide range of biologically and clinically important genes.

<span class="mw-page-title-main">GATA6</span> Protein-coding gene in the species Homo sapiens

Transcription factor GATA-6, also known as GATA-binding factor 6 (GATA6), is protein that in humans is encoded by the GATA6 gene. The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence.

<span class="mw-page-title-main">TBX3</span> Protein-coding gene in the species Homo sapiens

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.

<span class="mw-page-title-main">ID4</span> Protein-coding gene in humans

ID4 is a protein coding gene. In humans, it encodes for the protein known as DNA-binding protein inhibitor ID-4. This protein is known to be involved in the regulation of many cellular processes during both prenatal development and tumorigenesis. This is inclusive of embryonic cellular growth, senescence, cellular differentiation, apoptosis, and as an oncogene in angiogenesis.

<span class="mw-page-title-main">LBH (gene)</span> Protein-coding gene in the species Homo sapiens

The LBH gene is a highly conserved human gene that produces the LBH protein, a transcription co-factor in the Wnt/β-catenin pathway. Upon transcriptional activation of β-catenin, LBH goes on to act as a regulator of cell proliferation and differentiation through multiple transcriptional targets. The gene is located on the p arm of chromosome 2 and is roughly 28 kb long. Current ongoing studies are examining its role in developmental and oncological settings.

<span class="mw-page-title-main">SMC2</span> Protein-coding gene in the species Homo sapiens

Structural maintenance of chromosomes protein 2 (SMC-2), also known as chromosome-associated protein E (CAP-E), is a protein that in humans is encoded by the SMC2 gene. SMC2 is part of the SMC protein family and is a core subunit of condensin I and II, large protein complexes involved in chromosome condensation, overall organization. Several studies have demonstrated the necessity of SMC2 for cell division and proliferation.

<span class="mw-page-title-main">TFAP2C</span> Protein-coding gene in the species Homo sapiens

Transcription factor AP-2 gamma also known as AP2-gamma is a protein that in humans is encoded by the TFAP2C gene. AP2-gamma is a member of the activating protein 2 family of transcription factors.

<span class="mw-page-title-main">SHOX2</span> Protein-coding gene in the species Homo sapiens

Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.

Genome instability refers to a high frequency of mutations within the genome of a cellular lineage. These mutations can include changes in nucleic acid sequences, chromosomal rearrangements or aneuploidy. Genome instability does occur in bacteria. In multicellular organisms genome instability is central to carcinogenesis, and in humans it is also a factor in some neurodegenerative diseases such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000214717 Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, et al. (October 1998). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (5): 277–286. doi: 10.1093/dnares/5.5.277 . PMID   9872452.
  4. Esposito T, Gianfrancesco F, Ciccodicola A, Montanini L, Mumm S, D'Urso M, Forabosco A (January 1999). "A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases". Human Molecular Genetics. 8 (1): 61–67. doi: 10.1093/hmg/8.1.61 . PMID   9887332.
  5. "Entrez Gene: ZBED1 zinc finger, BED-type containing 1".
  6. Jin Y, Li R, Zhang Z, Ren J, Song X, Zhang G (November 2020). "ZBED1/DREF: A transcription factor that regulates cell proliferation". Oncology Letters. 20 (5): 137. doi:10.3892/ol.2020.11997. PMC   7471704 . PMID   32934705.
  7. 1 2 3 "ZBED1 Gene - GeneCards | ZBED1 Protein | ZBED1 Antibody". www.genecards.org. Retrieved 2023-04-27.
  8. Protein Data Bank in Europe. "PDB 2ct5 structure summary ‹ Protein Data Bank in Europe (PDBe) ‹ EMBL-EBI". www.ebi.ac.uk. Retrieved 2023-04-27.
  9. "O96006 ZBED1_HUMAN". UniProt. Retrieved 2023-04-27.
  10. "Fibrosclerosis of Breast disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2023-04-26.
  11. "Sotos Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2023-04-26.

Further reading