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词条 Annexin A6
释义

  1. Function

  2. Model organisms

  3. Interactions

  4. References

  5. Further reading

  6. External links

{{Infobox_gene}}Annexin A6 is a protein that in humans is encoded by the ANXA6 gene.[1]

Function

Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Exon 21 of annexin VI is alternatively spliced, giving rise to two isoforms that differ by a 6-amino acid insertion at the start of the seventh repeat. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis.[2]

Model organisms

Model organisms have been used in the study of ANXA6 function. A conditional knockout mouse line, called Anxa6tm1a(EUCOMM)Wtsi[9][10] 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.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty six tests were carried out on mutant mice and one significant abnormality was observed: female homozygous mutant animals had an increased susceptibility to Citrobacter infection.[7]

Interactions

ANXA6 has been shown to interact with RAS p21 protein activator 1.[15]

References

1. ^{{cite journal | vauthors = Crompton MR, Owens RJ, Totty NF, Moss SE, Waterfield MD, Crumpton MJ | title = Primary structure of the human, membrane-associated Ca2+-binding protein p68 a novel member of a protein family | journal = The EMBO Journal | volume = 7 | issue = 1 | pages = 21–7 | date = Jan 1988 | pmid = 3258820 | pmc = 454210 | doi = }}
2. ^{{cite web | title = Entrez Gene: ANXA6 annexin A6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=309| accessdate = }}
3. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBGB/dysmorphology/ |title=Dysmorphology data for Anxa6 |publisher=Wellcome Trust Sanger Institute}}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBGB/haematology-cbc/ |title=Haematology data for Anxa6 |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBGB/salmonella-challenge/ |title=Salmonella infection data for Anxa6 |publisher=Wellcome Trust Sanger Institute}}
6. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBGB/citrobacter-challenge/ |title=Citrobacter infection data for Anxa6 |publisher=Wellcome Trust Sanger Institute}}
7. ^1 2 {{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 }}
8. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
9. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Anxa6 |title=International Knockout Mouse Consortium}}
10. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432672 |title=Mouse Genome Informatics}}
11. ^{{cite journal | vauthors = 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 | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}
12. ^{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}
13. ^{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}
14. ^{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}
15. ^{{cite journal | vauthors = Chow A, Gawler D | title = Mapping the site of interaction between annexin VI and the p120GAP C2 domain | journal = FEBS Letters | volume = 460 | issue = 1 | pages = 166–72 | date = Oct 1999 | pmid = 10571081 | doi = 10.1016/S0014-5793(99)01336-8 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Moss SE, Jacob SM, Davies AA, Crumpton MJ | title = A growth-dependent post-translational modification of annexin VI | journal = Biochimica et Biophysica Acta | volume = 1160 | issue = 1 | pages = 120–6 | date = Nov 1992 | pmid = 1420329 | doi = 10.1016/0167-4838(92)90045-f }}
  • {{cite journal | vauthors = Barel M, Gauffre A, Lyamani F, Fiandino A, Hermann J, Frade R | title = Intracellular interaction of EBV/C3d receptor (CR2) with p68, a calcium-binding protein present in normal but not in transformed B lymphocytes | journal = Journal of Immunology | volume = 147 | issue = 4 | pages = 1286–91 | date = Aug 1991 | pmid = 1831222 | doi = }}
  • {{cite journal | vauthors = Yoshizaki H, Mizoguchi T, Arai K, Shiratsuchi M, Shidara Y, Maki M | title = Structure and properties of calphobindin II, an anticoagulant protein from human placenta | journal = Journal of Biochemistry | volume = 107 | issue = 1 | pages = 43–50 | date = Jan 1990 | pmid = 2139657 | doi = }}
  • {{cite journal | vauthors = Iwasaki A, Suda M, Watanabe M, Nakao H, Hattori Y, Nagoya T, Saino Y, Shidara Y, Maki M | title = Structure and expression of cDNA for calphobindin II, a human placental coagulation inhibitor | journal = Journal of Biochemistry | volume = 106 | issue = 1 | pages = 43–9 | date = Jul 1989 | pmid = 2528541 | doi = }}
  • {{cite journal | vauthors = Davies AA, Moss SE, Crompton MR, Jones TA, Spurr NK, Sheer D, Kozak C, Crumpton MJ | title = The gene coding for the p68 calcium-binding protein is localised to bands q32-q34 of human chromosome 5, and to mouse chromosome 11 | journal = Human Genetics | volume = 82 | issue = 3 | pages = 234–8 | date = Jun 1989 | pmid = 2731935 | doi = 10.1007/BF00291161 }}
  • {{cite journal | vauthors = Südhof TC, Slaughter CA, Leznicki I, Barjon P, Reynolds GA | title = Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 85 | issue = 3 | pages = 664–8 | date = Feb 1988 | pmid = 2963335 | pmc = 279615 | doi = 10.1073/pnas.85.3.664 }}
  • {{cite journal | vauthors = Warrington JA, Bengtsson U | title = High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis | journal = Genomics | volume = 24 | issue = 2 | pages = 395–8 | date = Nov 1994 | pmid = 7698768 | doi = 10.1006/geno.1994.1636 }}
  • {{cite journal | vauthors = Barel M, Balbo M, Gauffre A, Frade R | title = Binding sites of the Epstein-Barr virus and C3d receptor (CR2, CD21) for its three intracellular ligands, the p53 anti-oncoprotein, the p68 calcium binding protein and the nuclear p120 ribonucleoprotein | journal = Molecular Immunology | volume = 32 | issue = 6 | pages = 389–97 | date = Apr 1995 | pmid = 7753047 | doi = 10.1016/0161-5890(95)00005-Y }}
  • {{cite journal | vauthors = Smith PD, Davies A, Crumpton MJ, Moss SE | title = Structure of the human annexin VI gene | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 7 | pages = 2713–7 | date = Mar 1994 | pmid = 8146179 | pmc = 43440 | doi = 10.1073/pnas.91.7.2713 }}
  • {{cite journal | vauthors = Benz J, Bergner A, Hofmann A, Demange P, Göttig P, Liemann S, Huber R, Voges D | title = The structure of recombinant human annexin VI in crystals and membrane-bound | journal = Journal of Molecular Biology | volume = 260 | issue = 5 | pages = 638–43 | date = Aug 1996 | pmid = 8709144 | doi = 10.1006/jmbi.1996.0426 }}
  • {{cite journal | vauthors = Davis AJ, Butt JT, Walker JH, Moss SE, Gawler DJ | title = The Ca2+-dependent lipid binding domain of P120GAP mediates protein-protein interactions with Ca2+-dependent membrane-binding proteins. Evidence for a direct interaction between annexin VI and P120GAP | journal = The Journal of Biological Chemistry | volume = 271 | issue = 40 | pages = 24333–6 | date = Oct 1996 | pmid = 8798684 | doi = 10.1074/jbc.271.40.24333 }}
  • {{cite journal | vauthors = Barwise JL, Walker JH | title = Annexins II, IV, V and VI relocate in response to rises in intracellular calcium in human foreskin fibroblasts | journal = Journal of Cell Science | volume = 109 | issue = 1 | pages = 247–55 | date = Jan 1996 | pmid = 8834809 | doi = }}
  • {{cite journal | vauthors = Kester HA, van der Leede BM, van der Saag PT, van der Burg B | title = Novel progesterone target genes identified by an improved differential display technique suggest that progestin-induced growth inhibition of breast cancer cells coincides with enhancement of differentiation | journal = The Journal of Biological Chemistry | volume = 272 | issue = 26 | pages = 16637–43 | date = Jun 1997 | pmid = 9195978 | doi = 10.1074/jbc.272.26.16637 }}
  • {{cite journal | vauthors = Song G, Campos B, Wagoner LE, Dedman JR, Walsh RA | title = Altered cardiac annexin mRNA and protein levels in the left ventricle of patients with end-stage heart failure | journal = Journal of Molecular and Cellular Cardiology | volume = 30 | issue = 3 | pages = 443–51 | date = Mar 1998 | pmid = 9515022 | doi = 10.1006/jmcc.1997.0608 }}
  • {{cite journal | vauthors = Garbuglia M, Verzini M, Donato R | title = Annexin VI binds S100A1 and S100B and blocks the ability of S100A1 and S100B to inhibit desmin and GFAP assemblies into intermediate filaments | journal = Cell Calcium | volume = 24 | issue = 3 | pages = 177–91 | date = Sep 1998 | pmid = 9883272 | doi = 10.1016/S0143-4160(98)90127-0 }}
  • {{cite journal | vauthors = Chow A, Gawler D | title = Mapping the site of interaction between annexin VI and the p120GAP C2 domain | journal = FEBS Letters | volume = 460 | issue = 1 | pages = 166–72 | date = Oct 1999 | pmid = 10571081 | doi = 10.1016/S0014-5793(99)01336-8 }}
  • {{cite journal | vauthors = Dieudonné SC, Kerr JM, Xu T, Sommer B, DeRubeis AR, Kuznetsov SA, Kim IS, Gehron Robey P, Young MF | title = Differential display of human marrow stromal cells reveals unique mRNA expression patterns in response to dexamethasone | journal = Journal of Cellular Biochemistry | volume = 76 | issue = 2 | pages = 231–43 | date = Dec 1999 | pmid = 10618640 | doi = 10.1002/(SICI)1097-4644(20000201)76:2<231::AID-JCB7>3.0.CO;2-X }}
  • {{cite journal | vauthors = Pfander D, Swoboda B, Kirsch T | title = Expression of early and late differentiation markers (proliferating cell nuclear antigen, syndecan-3, annexin VI, and alkaline phosphatase) by human osteoarthritic chondrocytes | journal = The American Journal of Pathology | volume = 159 | issue = 5 | pages = 1777–83 | date = Nov 2001 | pmid = 11696438 | pmc = 1867060 | doi = 10.1016/S0002-9440(10)63024-6 }}
  • {{cite journal | vauthors = Takagi H, Asano Y, Yamakawa N, Matsumoto I, Kimata K | title = Annexin 6 is a putative cell surface receptor for chondroitin sulfate chains | journal = Journal of Cell Science | volume = 115 | issue = Pt 16 | pages = 3309–18 | date = Aug 2002 | pmid = 12140262 | doi = }}
{{refend}}

External links

  • {{UCSC gene info|ANXA6}}
{{PDB Gallery|geneid=309}}

1 : Genes mutated in mice
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