ZBED1
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesZBED1, ALTE, DREF, TRAMP, hDREF, zinc finger BED-type containing 1
External IDsOMIM: 300178 HomoloGene: 123965 GeneCards: ZBED1
Orthologs
SpeciesHumanMouse
Entrez

9189

n/a

Ensembl

ENSG00000214717

n/a

UniProt

O96006

n/a

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 Mbn/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]

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]

ZBED 1 has a multi metric state that appears to be monomeric. This shows the 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]

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


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