BCL7A

Protein-coding gene in humans
BCL7A
Identifiers
AliasesBCL7A, BCL7, B-cell CLL/lymphoma 7A, BCL tumor suppressor 7A, BAF complex component, BAF chromatin remodeling complex subunit SMARCJ1
External IDsOMIM: 601406; MGI: 1924295; HomoloGene: 10869; GeneCards: BCL7A; OMA:BCL7A - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for BCL7A
Genomic location for BCL7A
Band12q24.31Start122,019,422 bp[1]
End122,062,044 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for BCL7A
Genomic location for BCL7A
Band5|5 FStart123,481,897 bp[2]
End123,513,055 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • ventricular zone

  • prefrontal cortex

  • superior frontal gyrus

  • Brodmann area 9

  • cerebellum

  • cerebellar cortex

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • primary visual cortex
Top expressed in
  • hand

  • ganglionic eminence

  • superior cervical ganglion

  • utricle

  • ventricular zone

  • olfactory system

  • olfactory epithelium

  • prefrontal cortex

  • piriform cortex

  • primary motor cortex
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • molecular function
Cellular component
  • cellular component
Biological process
  • negative regulation of transcription, DNA-templated
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

605

77045

Ensembl

ENSG00000282873
ENSG00000110987

ENSMUSG00000029438

UniProt

Q4VC05

Q9CXE2

RefSeq (mRNA)

NM_020993
NM_001024808

NM_029850

RefSeq (protein)

NP_001019979
NP_066273

NP_084126

Location (UCSC)Chr 12: 122.02 – 122.06 MbChr 5: 123.48 – 123.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

B-cell CLL/lymphoma 7 protein family member A is a protein that in humans is encoded by the BCL7A gene located in the chromosome 12 (Cytogenetic band: 12q24.31).[5]

Function

This gene codifies for a protein that belongs to the SWI/SNF chromatin remodelling complex, a complex that is able to modify the interations between DNA and histones using the energy of the ATP hydrolysis. It has found recurrently mutated in lymphomas[6] and silenced by promoter hypermetylation in haematological malignancies.[7][8]

See also

References

  1. ^ a b c ENSG00000110987 GRCh38: Ensembl release 89: ENSG00000282873, ENSG00000110987 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029438 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "BCL7A BAF chromatin remodeling complex subunit BCL7A [ Homo sapiens (human) ]". Retrieved 2019-04-28.
  6. ^ Baliñas-Gavira C, Rodríguez MI, Andrades A, Cuadros M, Álvarez-Pérez JC, Álvarez-Prado ÁF, de Yébenes VG, Sánchez-Hernández S, Fernández-Vigo E, Muñoz J, Martín F, Ramiro AR, Martínez-Climent JA, Medina PP (October 2020). "Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL". Leukemia. 34 (10): 2722–2735. doi:10.1038/s41375-020-0919-5. ISSN 0887-6924. PMID 32576963. S2CID 219989509.
  7. ^ van Doorn R, Zoutman WH, Dijkman R, de Menezes RX, Commandeur S, Mulder AA, van der Velden PA, Vermeer MH, Willemze R, Yan PS, Huang TH, Tensen CP (2005-06-10). "Epigenetic Profiling of Cutaneous T-Cell Lymphoma: Promoter Hypermethylation of Multiple Tumor Suppressor Genes Including BCL7a , PTPRG , and p73". Journal of Clinical Oncology. 23 (17): 3886–3896. doi:10.1200/JCO.2005.11.353. ISSN 0732-183X. PMID 15897551.
  8. ^ Patiño-Mercau JR, Baliñas-Gavira C, Andrades A, Benitez-Cantos MS, Rot AE, Rodriguez MI, Álvarez-Pérez JC, Cuadros M, Medina PP (2023-03-20). "BCL7A is silenced by hypermethylation to promote acute myeloid leukemia". Biomarker Research. 11 (1): 32. doi:10.1186/s40364-023-00472-x. ISSN 2050-7771. PMC 10026484. PMID 36941700.

Further reading

  • van Doorn R, Zoutman WH, Dijkman R, de Menezes RX, Commandeur S, Mulder AA, van der Velden PA, Vermeer MH, Willemze R, Yan PS, Huang TH, Tensen CP (2005). "Epigenetic profiling of cutaneous T-cell lymphoma: promoter hypermethylation of multiple tumor suppressor genes including BCL7a, PTPRG, and p73". J. Clin. Oncol. 23 (17): 3886–96. doi:10.1200/JCO.2005.11.353. PMID 15897551.
  • Carbone A, Bernardini L, Valenzano F, Bottillo I, De Simone C, Capizzi R, Capalbo A, Romano F, Novelli A, Dallapiccola B, Amerio P (2008). "Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF". Genes Chromosomes Cancer. 47 (12): 1067–75. doi:10.1002/gcc.20601. PMID 18663754. S2CID 205827302.
  • Morton LM, Purdue MP, Zheng T, Wang SS, Armstrong B, Zhang Y, Menashe I, Chatterjee N, Davis S, Lan Q, Vajdic CM, Severson RK, Holford TR, Kricker A, Cerhan JR, Leaderer B, Grulich A, Yeager M, Cozen W, Hoar Zahm S, Chanock SJ, Rothman N, Hartge P (2009). "Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development". Cancer Epidemiol. Biomarkers Prev. 18 (4): 1259–70. doi:10.1158/1055-9965.EPI-08-1037. PMC 2716008. PMID 19336552.
  • Morton LM, Purdue MP, Zheng T, Wang SS, Armstrong B, Zhang Y, Menashe I, Chatterjee N, Davis S, Lan Q, Vajdic CM, Severson RK, Holford TR, Kricker A, Cerhan JR, Leaderer B, Grulich A, Yeager M, Cozen W, Hoar Zahm S, Chanock SJ, Rothman N, Hartge P (2009). "Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development". Cancer Epidemiol. Biomarkers Prev. 18 (4): 1259–70. doi:10.1158/1055-9965.EPI-08-1037. PMC 2716008. PMID 19336552.
  • Liang XS, Caporaso N, McMaster ML, Ng D, Landgren O, Yeager M, Chanock S, Goldin LR (2009). "Common genetic variants in candidate genes and risk of familial lymphoid malignancies". Br. J. Haematol. 146 (4): 418–23. doi:10.1111/j.1365-2141.2009.07790.x. PMC 2890251. PMID 19573080.
  • Hosgood HD, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M, Lan Q (2009). "Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity". Occup Environ Med. 66 (12): 848–53. doi:10.1136/oem.2008.044024. PMC 2928224. PMID 19773279.
  • Litvinov IV, Zhou Y, Kupper TS, Sasseville D (2013). "Loss of BCL7A expression correlates with poor disease prognosis in patients with early-stage cutaneous T-cell lymphoma". Leuk. Lymphoma. 54 (3): 653–4. doi:10.3109/10428194.2012.717695. PMID 22856870. S2CID 46257094.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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