ZBED1

ZBED1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2CT5
Identifiers
Aliases	ZBED1, ALTE, DREF, TRAMP, hDREF, zinc finger BED-type containing 1
External IDs	OMIM: 300178; HomoloGene: 123965; GeneCards: ZBED1; OMA:ZBED1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band X;Y Start 2,486,414 bp[1] End 2,500,976 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glutes gastrocnemius muscle quadriceps femoris muscle vastus lateralis muscle ganglionic eminence skin of thigh ventricular zone skeletal muscle tissue muscle of arm biceps brachii n/a More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding transposase activity protein binding protein dimerization activity metal ion binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity identical protein binding SUMO transferase activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nuclear chromosome nucleus nucleoplasm Biological process regulation of transcription by RNA polymerase II protein sumoylation transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 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]

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]

References

Further reading

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