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Wikipedia

PLEKHG4

April 12, 2024

Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.[5][6][7]

PLEKHG4
Identifiers
AliasesPLEKHG4, ARHGEF44, PRTPHN1, SCA4, pleckstrin homology and RhoGEF domain containing G4
External IDsOMIM: 609526 MGI: 2142544 HomoloGene: 18516 GeneCards: PLEKHG4
Orthologs
SpeciesHumanMouse
Entrez

25894

102075

Ensembl

ENSG00000196155

ENSMUSG00000014782

UniProt

Q58EX7

n/a

RefSeq (mRNA)

NM_001129727
NM_001129728
NM_001129729
NM_001129731
NM_015432

NM_001081333
NM_175321
NM_001364406

RefSeq (protein)

NP_001123199
NP_001123200
NP_001123201
NP_001123203

n/a

Location (UCSC)Chr 16: 67.28 – 67.29 MbChr 8: 106.1 – 106.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196155 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014782 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wieczorek S, Arning L, Alheite I, Epplen JT (Apr 2006). "Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population". J Hum Genet. 51 (4): 363–7. doi:10.1007/s10038-006-0372-y. PMID 16491300.
  6. ^ Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H (Jul 2005). "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains". Am J Hum Genet. 77 (2): 280–96. doi:10.1086/432518. PMC 1224530. PMID 16001362.
  7. ^ "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4".

Further reading edit

  • Flanigan K, Gardner K, Alderson K, et al. (1996). "Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1". Am. J. Hum. Genet. 59 (2): 392–9. PMC 1914712. PMID 8755926.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Hellenbroich Y, Bubel S, Pawlack H, et al. (2003). "Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region". J. Neurol. 250 (6): 668–71. doi:10.1007/s00415-003-1052-x. PMID 12796826. S2CID 24535657.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Hirano R, Takashima H, Okubo R, et al. (2005). "Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families". Neurogenetics. 5 (4): 215–21. doi:10.1007/s10048-004-0194-z. PMID 15455264. S2CID 34569635.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
  • Ouyang Y, Sakoe K, Shimazaki H, et al. (2006). "16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study". J. Neurol. Sci. 247 (2): 180–6. doi:10.1016/j.jns.2006.04.009. PMID 16780885. S2CID 35623283.
  • Nozaki H, Ikeuchi T, Kawakami A, et al. (2007). "Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population". Mov. Disord. 22 (6): 857–62. doi:10.1002/mds.21443. PMID 17357132. S2CID 7082224.
  • Amino T, Ishikawa K, Toru S, et al. (2007). "Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia". J. Hum. Genet. 52 (8): 643–9. doi:10.1007/s10038-007-0154-1. PMID 17611710.


 

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

April 12, 2024
plekhg4, puratrophin, protein, that, humans, encoded, gene, identifiersaliases, arhgef44, prtphn1, sca4, pleckstrin, homology, rhogef, domain, containing, g4external, idsomim, 609526, 2142544, homologene, 18516, genecards, gene, location, human, chromosome, hu. Puratrophin 1 is a protein that in humans is encoded by the PLEKHG4 gene 5 6 7 PLEKHG4IdentifiersAliasesPLEKHG4 ARHGEF44 PRTPHN1 SCA4 pleckstrin homology and RhoGEF domain containing G4External IDsOMIM 609526 MGI 2142544 HomoloGene 18516 GeneCards PLEKHG4Gene location Human Chr Chromosome 16 human 1 Band16q22 1Start67 277 510 bp 1 End67 289 499 bp 1 Gene location Mouse Chr Chromosome 8 mouse 2 Band8 8 D3Start106 099 906 bp 2 End106 109 494 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intibial nervelactiferous ductskin of limbskin of abdomenspleensubcutaneous adipose tissueganglionic eminencetibiabody of pancreasminor salivary glandTop expressed inspermatocytebody of femurcalvariaseminiferous tubulecerebellar cortexspermatidoocytesecondary oocytesuperior frontal gyrusovaryMore reference expression dataBioGPSn aOrthologsSpeciesHumanMouseEntrez25894102075EnsemblENSG00000196155ENSMUSG00000014782UniProtQ58EX7n aRefSeq mRNA NM 001129727NM 001129728NM 001129729NM 001129731NM 015432NM 001081333NM 175321NM 001364406RefSeq protein NP 001123199NP 001123200NP 001123201NP 001123203n aLocation UCSC Chr 16 67 28 67 29 MbChr 8 106 1 106 11 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseReferences edit a b c GRCh38 Ensembl release 89 ENSG00000196155 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000014782 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 Wieczorek S Arning L Alheite I Epplen JT Apr 2006 Mutations of the puratrophin 1 PLEKHG4 gene on chromosome 16q22 1 are not a common genetic cause of cerebellar ataxia in a European population J Hum Genet 51 4 363 7 doi 10 1007 s10038 006 0372 y PMID 16491300 Ishikawa K Toru S Tsunemi T Li M Kobayashi K Yokota T Amino T Owada K Fujigasaki H Sakamoto M Tomimitsu H Takashima M Kumagai J Noguchi Y Kawashima Y Ohkoshi N Ishida G Gomyoda M Yoshida M Hashizume Y Saito Y Murayama S Yamanouchi H Mizutani T Kondo I Toda T Mizusawa H Jul 2005 An autosomal dominant cerebellar ataxia linked to chromosome 16q22 1 is associated with a single nucleotide substitution in the 5 untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine nucleotide exchange factor domains Am J Hum Genet 77 2 280 96 doi 10 1086 432518 PMC 1224530 PMID 16001362 Entrez Gene PLEKHG4 pleckstrin homology domain containing family G with RhoGef domain member 4 Further reading editFlanigan K Gardner K Alderson K et al 1996 Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy SCA4 clinical description and genetic localization to chromosome 16q22 1 Am J Hum Genet 59 2 392 9 PMC 1914712 PMID 8755926 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Hellenbroich Y Bubel S Pawlack H et al 2003 Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region J Neurol 250 6 668 71 doi 10 1007 s00415 003 1052 x PMID 12796826 S2CID 24535657 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Hirano R Takashima H Okubo R et al 2005 Fine mapping of 16q linked autosomal dominant cerebellar ataxia type III in Japanese families Neurogenetics 5 4 215 21 doi 10 1007 s10048 004 0194 z PMID 15455264 S2CID 34569635 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Lim J Hao T Shaw C et al 2006 A protein protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration Cell 125 4 801 14 doi 10 1016 j cell 2006 03 032 PMID 16713569 S2CID 13709685 Ouyang Y Sakoe K Shimazaki H et al 2006 16q linked autosomal dominant cerebellar ataxia a clinical and genetic study J Neurol Sci 247 2 180 6 doi 10 1016 j jns 2006 04 009 PMID 16780885 S2CID 35623283 Nozaki H Ikeuchi T Kawakami A et al 2007 Clinical and genetic characterizations of 16q linked autosomal dominant spinocerebellar ataxia AD SCA and frequency analysis of AD SCA in the Japanese population Mov Disord 22 6 857 62 doi 10 1002 mds 21443 PMID 17357132 S2CID 7082224 Amino T Ishikawa K Toru S et al 2007 Redefining the disease locus of 16q22 1 linked autosomal dominant cerebellar ataxia J Hum Genet 52 8 643 9 doi 10 1007 s10038 007 0154 1 PMID 17611710 nbsp This article on a gene on human chromosome 16 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title PLEKHG4 amp oldid 1184037185, 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