Protein-coding gene in the species Homo sapiens
| H2BW1 |
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| Identifiers |
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| Aliases | H2BW1, H2B histone family member W, testis specific, H2BFWT, H2B.W histone 1, TH2B-175 |
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| External IDs | OMIM: 300507; HomoloGene: 128214; GeneCards: H2BW1; OMA:H2BW1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | X chromosome (human)[1] |
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| | Band | Xq22.2 | Start | 104,011,147 bp[1] |
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| End | 104,013,708 bp[1] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - testicle
- right testis
- placenta
- left testis
- right coronary artery
- prefrontal cortex
- tonsil
- superior frontal gyrus
- blood
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| | | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - DNA binding
- protein heterodimerization activity
| | Cellular component | - nucleosome
- nuclear membrane
- membrane
- nucleus
- chromosome
| | Biological process | | | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr X: 104.01 – 104.01 Mb | n/a |
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| PubMed search | [2] | n/a |
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| Wikidata |
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H2B histone family, member W, testis-specific is a protein that in humans is encoded by the H2BFWT gene.[3]
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Jan 2010].[3]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000123569 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: H2B histone family, member W, testis-specific". Retrieved 2012-03-12.
Further reading
- Churikov D, Zalenskaya IA, Zalensky AO (2004). "Male germline-specific histones in mouse and man". Cytogenetic and Genome Research. 105 (2–4): 203–14. doi:10.1159/000078190. PMID 15237208. S2CID 35801583.
- Churikov D, Siino J, Svetlova M, Zhang K, Gineitis A, Morton Bradbury E, Zalensky A (October 2004). "Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome". Genomics. 84 (4): 745–56. doi:10.1016/j.ygeno.2004.06.001. PMID 15475252.
- Boulard M, Gautier T, Mbele GO, Gerson V, Hamiche A, Angelov D, Bouvet P, Dimitrov S (February 2006). "The NH2 tail of the novel histone variant H2BFWT exhibits properties distinct from conventional H2B with respect to the assembly of mitotic chromosomes". Molecular and Cellular Biology. 26 (4): 1518–26. doi:10.1128/MCB.26.4.1518-1526.2006. PMC 1367197. PMID 16449661.
- Lee J, Park HS, Kim HH, Yun YJ, Lee DR, Lee S (August 2009). "Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility". Journal of Cellular and Molecular Medicine. 13 (8B): 1942–51. doi:10.1111/j.1582-4934.2009.00830.x. PMC 6529973. PMID 19583817.
