HP1BP3

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HP1BP3
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases HP1BP3, HP1-BP74, HP1BP74, heterochromatin protein 1 binding protein 3
External IDs MGI: 109369 HomoloGene: 7774 GeneCards: HP1BP3
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for HP1BP3
Genomic location for HP1BP3
Band 1p36.12 Start 20,742,661 bp[1]
End 20,787,323 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016287

RefSeq (protein)

NP_057371

Location (UCSC) Chr 1: 20.74 – 20.79 Mb Chr 1: 138.22 – 138.24 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Heterochromatin protein 1, binding protein 3 is a protein that in humans is encoded by the HP1BP3 gene.[5] It has been identified as a novel subtype of the linker histone H1, involved in the structure of heterochromatin [6][7][8]

Model organisms[edit]

Model organisms have been used in the study of HP1BP3 function. A conditional knockout mouse line, called Hp1bp3tm1a(EUCOMM)Wtsi[16][17] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[18][19][20] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty three tests were carried out and six significant phenotypes were reported. Fewer homozygous mutant embryos were identified during gestation than predicted by Mendelian ratio. Homozygous mutant female adults had decreased body weight, heart weight and bone mineral density, and increased blood urea levels and T cell number.[14]

HP1BP3 deficiency in mice results in severe dwarfism and impaired bone mass, caused by altered endocrine IGF-1 signaling.[22] The gene is highly expressed in the brain and a number of behavioral phenotypes have been described for the mice. Lack of HP1BP3 led to impaired maternal behavior and reduced anxiety, leading to a dramatic reduction in litter survival.[23] This may be related to the connection between HP1BP3 and postpartum depression in humans.[24] Finally, HP1BP3 has been implicated in Alzheimer's disease.[1].[25]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000127483 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028759 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ "Entrez Gene: heterochromatin protein 1, binding protein 3". Retrieved 2011-08-30. 
  6. ^ Garfinkel BP, Melamed-Book N, Anuka E, Bustin M, Orly J (February 2015). "HP1BP3 is a novel histone H1 related protein with essential roles in viability and growth". Nucleic Acids Research. 43 (4): 2074–90. doi:10.1093/nar/gkv089. PMC 4344522Freely accessible. PMID 25662603. 
  7. ^ Dutta B, Ren Y, Hao P, Sim KH, Cheow E, Adav S, Tam JP, Sze SK (September 2014). "Profiling of the Chromatin-associated Proteome Identifies HP1BP3 as a Novel Regulator of Cell Cycle Progression". Molecular & Cellular Proteomics. 13 (9): 2183–97. doi:10.1074/mcp.M113.034975. PMC 4159643Freely accessible. PMID 24830416. 
  8. ^ Hayashihara K, Uchiyama S, Shimamoto S, Kobayashi S, Tomschik M, Wakamatsu H, No D, Sugahara H, Hori N, Noda M, Ohkubo T, Zlatanova J, Matsunaga S, Fukui K (February 2010). "The middle region of an HP1-binding protein, HP1-BP74, associates with linker DNA at the entry/exit site of nucleosomal DNA". The Journal of Biological Chemistry. 285 (9): 6498–507. doi:10.1074/jbc.M109.092833. PMC 2825445Freely accessible. PMID 20042602. 
  9. ^ "Body weight data for Hp1bp3". Wellcome Trust Sanger Institute. 
  10. ^ "DEXA data for Hp1bp3". Wellcome Trust Sanger Institute. 
  11. ^ "Clinical chemistry data for Hp1bp3". Wellcome Trust Sanger Institute. 
  12. ^ "Heart weight data for Hp1bp3". Wellcome Trust Sanger Institute. 
  13. ^ "Citrobacter infection data for Hp1bp3". Wellcome Trust Sanger Institute. 
  14. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  15. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  16. ^ "International Knockout Mouse Consortium". 
  17. ^ "Mouse Genome Informatics". 
  18. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  19. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  20. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  21. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 
  22. ^ Garfinkel BP, Arad S, Le PT, Bustin M, Rosen CJ, Gabet Y, Orly J (December 2015). "Proportionate Dwarfism in Mice Lacking Heterochromatin Protein 1 Binding Protein 3 (HP1BP3) Is Associated With Alterations in the Endocrine IGF-1 Pathway". Endocrinology. 156 (12): 4558–70. doi:10.1210/en.2015-1668. PMID 26402843. 
  23. ^ Garfinkel BP, Arad S, Neuner S, Netser S, Wagner S, Kaczorowski CC, Rosen CJ, Gal M, Soreq H, Orly J (July 2016). "HP1BP3 expression determines maternal behavior and offspring survival". Genes, Brain, and Behavior. 15: 678–88. doi:10.1111/gbb.12312. PMID 27470444. 
  24. ^ Guintivano J, Arad M, Gould TD, Payne JL, Kaminsky ZA (May 2014). "Antenatal prediction of postpartum depression with blood DNA methylation biomarkers". Molecular Psychiatry. 19 (5): 560–7. doi:10.1038/mp.2013.62. PMID 23689534. 
  25. ^ Neuner SM, Garfinkel BP, Wilmott LA, Ignatowska-Jankowska BM, Citri A, Orly J, Lu L, Overall RW, Mulligan MK, Kempermann G, Williams RW, O'Connell KM, Kaczorowski CC (June 2016). "Systems genetics identifies Hp1bp3 as a novel modulator of cognitive aging". Neurobiology of Aging. 46: 58–67. doi:10.1016/j.neurobiolaging.2016.06.008. PMID 27460150. 

Further reading[edit]