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][5]
HACNS1edit
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 humanthumb, 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.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000157985 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000055013 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^HACNS1: Gene enhancer in evolution of human opposable thumb
External linksedit
Human AGAP1 genome location and AGAP1 gene details page in the UCSC Genome Browser.
Further readingedit
Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jun 1999). "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". DNA Research. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.
Nie Z, Stanley KT, Stauffer S, Jacques KM, Hirsch DS, Takei J, Randazzo PA (Dec 2002). "AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton". The Journal of Biological Chemistry. 277 (50): 48965–75. doi:10.1074/jbc.M202969200. PMID 12388557.
Xia C, Ma W, Stafford LJ, Liu C, Gong L, Martin JF, Liu M (Apr 2003). "GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins". Molecular and Cellular Biology. 23 (7): 2476–88. doi:10.1128/MCB.23.7.2476-2488.2003. PMC150724. PMID 12640130.
Nie Z, Boehm M, Boja ES, Vass WC, Bonifacino JS, Fales HM, Randazzo PA (Sep 2003). "Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1". Developmental Cell. 5 (3): 513–21. doi:10.1016/S1534-5807(03)00234-X. PMID 12967569.
Meurer S, Pioch S, Wagner K, Müller-Esterl W, Gross S (Nov 2004). "AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase". The Journal of Biological Chemistry. 279 (47): 49346–54. doi:10.1074/jbc.M410565200. PMID 15381706.
Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW, Goedken R, Childress D, Spence MA, Smith M, Sheffield VC (Jul 2005). "Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene". American Journal of Medical Genetics Part B. 136B (1): 36–44. doi:10.1002/ajmg.b.30180. PMID 15892143. S2CID 3858998.
Nie Z, Fei J, Premont RT, Randazzo PA (Aug 2005). "The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3". Journal of Cell Science. 118 (Pt 15): 3555–66. doi:10.1242/jcs.02486. PMID 16079295.
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 (Dec 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.
centg2, with, gtpase, repeat, domain, containing, protein, enzyme, that, humans, encoded, agap1, gene, agap1identifiersaliasesagap1, agap, ggap1, arfgap, with, gtpase, domain, ankyrin, repeat, domain, 1external, idsomim, 608651, 2653690, homologene, 56689, gen. Arf GAP with GTPase ANK repeat and PH domain containing protein 1 is an enzyme that in humans is encoded by the AGAP1 gene 5 AGAP1IdentifiersAliasesAGAP1 AGAP 1 CENTG2 GGAP1 cnt g2 ArfGAP with GTPase domain ankyrin repeat and PH domain 1External IDsOMIM 608651 MGI 2653690 HomoloGene 56689 GeneCards AGAP1Gene location Human Chr Chromosome 2 human 1 Band2q37 2Start235 494 043 bp 1 End236 131 800 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 1 DStart89 382 528 bp 2 End89 825 339 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed infrontal polesuperior vestibular nucleussural nerveinferior ganglion of vagus nervecorpus callosumponsparietal lobepostcentral gyrusmiddle frontal gyrusventral tegmental areaTop expressed ininferior colliculusentorhinal cortexventromedial nucleusarcuate nucleusmedulla oblongatasupraoptic nucleusparaventricular nucleus of hypothalamusmedial dorsal nucleusmedial geniculate nucleusglobus pallidusMore reference expression dataBioGPSn aGene ontologyMolecular functionnucleotide binding GTP binding phospholipid binding metal ion binding GTPase activator activity GTPase activityCellular componentcytoplasm nucleusBiological processprotein transport positive regulation of GTPase activitySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez116987347722EnsemblENSG00000157985ENSMUSG00000055013UniProtQ9UPQ3Q8BXK8RefSeq mRNA NM 001037131NM 001244888NM 014914NM 001037136NM 178119RefSeq protein NP 001032208NP 001231817NP 055729NP 001032213NP 835220Location UCSC Chr 2 235 49 236 13 MbChr 1 89 38 89 83 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 HACNS1 3 References 4 External links 5 Further readingFunction editCENTG2 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 5 HACNS1 editHACNS1 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 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000157985 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000055013 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene CENTG2 centaurin gamma 2 HACNS1 Gene enhancer in evolution of human opposable thumbExternal links editHuman AGAP1 genome location and AGAP1 gene details page in the UCSC Genome Browser Further reading editKikuno R Nagase T Ishikawa K Hirosawa M Miyajima N Tanaka A Kotani H Nomura N Ohara O Jun 1999 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 DNA Research 6 3 197 205 doi 10 1093 dnares 6 3 197 PMID 10470851 Nie Z Stanley KT Stauffer S Jacques KM Hirsch DS Takei J Randazzo PA Dec 2002 AGAP1 an endosome associated phosphoinositide dependent ADP ribosylation factor GTPase activating protein that affects actin cytoskeleton The Journal of Biological Chemistry 277 50 48965 75 doi 10 1074 jbc M202969200 PMID 12388557 Xia C Ma W Stafford LJ Liu C Gong L Martin JF Liu M Apr 2003 GGAPs a new family of bifunctional GTP binding and GTPase activating proteins Molecular and Cellular Biology 23 7 2476 88 doi 10 1128 MCB 23 7 2476 2488 2003 PMC 150724 PMID 12640130 Nie Z Boehm M Boja ES Vass WC Bonifacino JS Fales HM Randazzo PA Sep 2003 Specific regulation of the adaptor protein complex AP 3 by the Arf GAP AGAP1 Developmental Cell 5 3 513 21 doi 10 1016 S1534 5807 03 00234 X PMID 12967569 Meurer S Pioch S Wagner K Muller Esterl W Gross S Nov 2004 AGAP1 a novel binding partner of nitric oxide sensitive guanylyl cyclase The Journal of Biological Chemistry 279 47 49346 54 doi 10 1074 jbc M410565200 PMID 15381706 Wassink TH Piven J Vieland VJ Jenkins L Frantz R Bartlett CW Goedken R Childress D Spence MA Smith M Sheffield VC Jul 2005 Evaluation of the chromosome 2q37 3 gene CENTG2 as an autism susceptibility gene American Journal of Medical Genetics Part B 136B 1 36 44 doi 10 1002 ajmg b 30180 PMID 15892143 S2CID 3858998 Nie Z Fei J Premont RT Randazzo PA Aug 2005 The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP 1 and AP 3 Journal of Cell Science 118 Pt 15 3555 66 doi 10 1242 jcs 02486 PMID 16079295 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 Dec 2005 Transcriptome analysis of human gastric cancer Mammalian Genome 16 12 942 54 doi 10 1007 s00335 005 0075 2 PMID 16341674 S2CID 69278 nbsp This article on a gene on human chromosome 2 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CENTG2 amp oldid 1187339197, wikipedia, wiki, book, books, library,
