| 释义 |
- Function
- HACNS1
- Model organisms
- References
- External links
- Further reading
{{Infobox_gene}}Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 is an enzyme that in humans is encoded by the AGAP1 gene.[1] Function CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002).[supplied by OMIM][1] HACNS1 HACNS1 is located in an intron of the gene CENTG2 (also known as Human Accelerated Region 2). HACNS1 is hypothesized to be a gene enhancer "that may have contributed to the evolution of the uniquely opposable human thumb, and possibly also modifications in the ankle or foot that allow humans to walk on two legs". Evidence to date shows that of the 110,000 gene enhancer sequences identified in the human genome, HACNS1 has undergone the most change during the evolution of humans following the split with the ancestors of chimpanzees.[2] Model organismsModel organisms have been used in the study of AGAP1 function. A conditional knockout mouse line called Agap1tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9] - in-depth bone and cartilage phenotyping[10] Agap1 knockout mouse phenotype| Characteristic | Phenotype |
|---|
| All data available at.[4][9][10] | | Peripheral blood leukocytes 6 Weeks | Normal | | Haematology 6 Weeks | Normal | | Insulin | Normal | | Homozygous viability at P14 | Abnormal | | Recessive lethal study | Normal | | Homozygous Fertility | Normal | | Body weight | Normal | | Neurological assessment | Normal | | Grip strength | Normal | | Dysmorphology | Abnormal | | Indirect calorimetry | Normal | | Glucose tolerance test | Normal | | Auditory brainstem response | Abnormal | | DEXA | Normal | | Radiography | Abnormal | | Eye morphology | Abnormal | | Clinical chemistry | Normal | | Haematology 16 Weeks | Normal | | Peripheral blood leukocytes 16 Weeks | Normal | | Heart weight | Normal | | Salmonella infection | Normal | | Cytotoxic T Cell Function | Normal | | Spleen Immunophenotyping | Normal | | Mesenteric Lymph Node Immunophenotyping | Normal | | Bone Marrow Immunophenotyping | Normal | | Epidermal Immune Composition | Normal | | Influenza Challenge | Normal | |
{{clear|left}} References 1. ^1 {{cite web | title = Entrez Gene: CENTG2 centaurin, gamma 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=116987| accessdate = }}
2. ^HACNS1: Gene enhancer in evolution of human opposable thumb
3. ^{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}
4. ^1 {{cite web |url=http://www.mousephenotype.org/data/search?q=Agap1#fq=**&facet=gene |title=International Mouse Phenotyping Consortium}}
5. ^{{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 }}
6. ^{{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 }}
7. ^{{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 }}
8. ^{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}
9. ^1 {{cite web |url= http://www.immunophenotyping.org/data/search?keys=Agap1&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}
10. ^1 {{cite web |url=http://www.boneandcartilage.com/ |title=OBCD Consortium}}
External links Further reading {{refbegin|33em}}- {{cite journal | vauthors = Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Research | volume = 6 | issue = 3 | pages = 197–205 | date = Jun 1999 | pmid = 10470851 | doi = 10.1093/dnares/6.3.197 }}
- {{cite journal | vauthors = Nie Z, Stanley KT, Stauffer S, Jacques KM, Hirsch DS, Takei J, Randazzo PA | title = AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton | journal = The Journal of Biological Chemistry | volume = 277 | issue = 50 | pages = 48965–75 | date = Dec 2002 | pmid = 12388557 | doi = 10.1074/jbc.M202969200 }}
- {{cite journal | vauthors = Xia C, Ma W, Stafford LJ, Liu C, Gong L, Martin JF, Liu M | title = GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 7 | pages = 2476–88 | date = Apr 2003 | pmid = 12640130 | pmc = 150724 | doi = 10.1128/MCB.23.7.2476-2488.2003 }}
- {{cite journal | vauthors = Nie Z, Boehm M, Boja ES, Vass WC, Bonifacino JS, Fales HM, Randazzo PA | title = Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1 | journal = Developmental Cell | volume = 5 | issue = 3 | pages = 513–21 | date = Sep 2003 | pmid = 12967569 | doi = 10.1016/S1534-5807(03)00234-X }}
- {{cite journal | vauthors = Meurer S, Pioch S, Wagner K, Müller-Esterl W, Gross S | title = AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase | journal = The Journal of Biological Chemistry | volume = 279 | issue = 47 | pages = 49346–54 | date = Nov 2004 | pmid = 15381706 | doi = 10.1074/jbc.M410565200 }}
- {{cite journal | vauthors = Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW, Goedken R, Childress D, Spence MA, Smith M, Sheffield VC | title = Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene | journal = American Journal of Medical Genetics Part B | volume = 136B | issue = 1 | pages = 36–44 | date = Jul 2005 | pmid = 15892143 | doi = 10.1002/ajmg.b.30180 }}
- {{cite journal | vauthors = Nie Z, Fei J, Premont RT, Randazzo PA | title = The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3 | journal = Journal of Cell Science | volume = 118 | issue = Pt 15 | pages = 3555–66 | date = Aug 2005 | pmid = 16079295 | doi = 10.1242/jcs.02486 }}
- {{cite journal | vauthors = Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS | title = Transcriptome analysis of human gastric cancer | journal = Mammalian Genome | volume = 16 | issue = 12 | pages = 942–54 | date = Dec 2005 | pmid = 16341674 | doi = 10.1007/s00335-005-0075-2 }}
{{refend}}{{gene-2-stub}} |