ZBED1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

PDBHuman UniProt search: PDBe RCSB
AliasesZBED1, ALTE, DREF, TRAMP, hDREF, zinc finger BED-type containing 1
Quick facts Available structures, PDB ...
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; OMA:ZBED1 - orthologs
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 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human
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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]

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.[8] 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).[9]

References

Further reading

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