GDAP1: Difference between revisions

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{{Infobox_gene}}
{{GNF_Protein_box
'''Ganglioside-induced differentiation-associated protein 1''' is a [[protein]] that in humans is encoded by the ''GDAP1'' [[gene]].<ref name="pmid54332">{{cite journal |vauthors=Gauldie J, Bhandari SC, Singal DP | title = Alteration of the HL-A antigenic site in situ | journal = Immunol Commun | volume = 4 | issue = 5 | pages = 465–76 |date=Apr 1976 | pmid = 54332 | pmc = | doi =  10.3109/08820137509057334}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332| accessdate = }}</ref>
| image = 
| image_source = 
| PDB =
| Name = Ganglioside-induced differentiation-associated protein 1
| HGNCid = 15968
| Symbol = GDAP1
| AltSymbols =;
| OMIM = 606598
| ECnumber = 
| Homologene = 40713
| MGIid = 1338002
| GeneAtlas_image1 = PBB_GE_GDAP1_221279_at_tn.png
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 54332
    | Hs_Ensembl = ENSG00000104381
    | Hs_RefseqProtein = NP_001035808
    | Hs_RefseqmRNA = NM_001040875
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 75425248
    | Hs_GenLoc_end = 75439157
    | Hs_Uniprot = Q8TB36
    | Mm_EntrezGene = 14545
    | Mm_Ensembl = ENSMUSG00000025777
    | Mm_RefseqmRNA = NM_010267
    | Mm_RefseqProtein = NP_034397
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 17130611
    | Mm_GenLoc_end = 17149485
    | Mm_Uniprot = Q3UEX4
  }}
}}
'''Ganglioside-induced differentiation-associated protein 1''', also known as '''GDAP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332| accessdate = }}</ref>
| summary_text = This gene encodes a member of the [[ganglioside]]-induced differentiation-associated protein family, which may play a role in a [[signal transduction pathway]] during [[neuronal]] development. Mutations in this gene have been associated with various forms of [[Charcot-Marie-Tooth Disease]] and [[neuropathy]]. Two transcript variants encoding different [[isoforms]] have been identified for this gene.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Gauldie J, Bhandari SC, Singal DP |title=Alteration of the HL-A antigenic site in situ. |journal=Immunol. Commun. |volume=4 |issue= 5 |pages= 465-76 |year= 1976 |pmid= 54332 |doi=  }}
*{{cite journal  |vauthors=Liu H, Nakagawa T, Kanematsu T |title=Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene |journal=J. Neurochem. |volume=72 |issue= 5 |pages= 1781–90 |year= 1999 |pmid= 10217254 |doi=10.1046/j.1471-4159.1999.0721781.x |display-authors=etal}}
*{{cite journal  | author=Liu H, Nakagawa T, Kanematsu T, ''et al.'' |title=Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. |journal=J. Neurochem. |volume=72 |issue= 5 |pages= 1781-90 |year= 1999 |pmid= 10217254 |doi=  }}
*{{cite journal  |vauthors=Brockington M, Blake DJ, Prandini P |title=Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1198–209 |year= 2002 |pmid= 11592034 |doi=10.1086/324412  | pmc=1235559 |display-authors=etal}}
*{{cite journal  | author=Brockington M, Blake DJ, Prandini P, ''et al.'' |title=Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1198-209 |year= 2002 |pmid= 11592034 |doi= }}
*{{cite journal  |vauthors=Baxter RV, Ben Othmane K, Rochelle JM |title=Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 21–2 |year= 2002 |pmid= 11743579 |doi= 10.1038/ng796 |display-authors=etal}}
*{{cite journal  | author=Baxter RV, Ben Othmane K, Rochelle JM, ''et al.'' |title=Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 21-2 |year= 2002 |pmid= 11743579 |doi= 10.1038/ng796 }}
*{{cite journal  |vauthors=Cuesta A, Pedrola L, Sevilla T |title=The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 22–5 |year= 2002 |pmid= 11743580 |doi= 10.1038/ng798 |display-authors=etal}}
*{{cite journal  | author=Cuesta A, Pedrola L, Sevilla T, ''et al.'' |title=The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 22-5 |year= 2002 |pmid= 11743580 |doi= 10.1038/ng798 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Nelis E, Erdem S, Van Den Bergh PY |title=Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy |journal=Neurology |volume=59 |issue= 12 |pages= 1865–72 |year= 2003 |pmid= 12499475 |doi= 10.1212/01.wnl.0000036272.36047.54|display-authors=etal}}
*{{cite journal  | author=Nelis E, Erdem S, Van Den Bergh PY, ''et al.'' |title=Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. |journal=Neurology |volume=59 |issue= 12 |pages= 1865-72 |year= 2003 |pmid= 12499475 |doi=  }}
*{{cite journal  |vauthors=Senderek J, Bergmann C, Ramaekers VT |title=Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy |journal=Brain |volume=126 |issue= Pt 3 |pages= 642–9 |year= 2003 |pmid= 12566285 |doi=10.1093/brain/awg068 |display-authors=etal}}
*{{cite journal  | author=Senderek J, Bergmann C, Ramaekers VT, ''et al.'' |title=Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. |journal=Brain |volume=126 |issue= Pt 3 |pages= 642-9 |year= 2003 |pmid= 12566285 |doi= }}
*{{cite journal  |vauthors=Boerkoel CF, Takashima H, Nakagawa M |title=CMT4A: identification of a Hispanic GDAP1 founder mutation |journal=Ann. Neurol. |volume=53 |issue= 3 |pages= 400–5 |year= 2003 |pmid= 12601710 |doi= 10.1002/ana.10505 |display-authors=etal}}
*{{cite journal  | author=Boerkoel CF, Takashima H, Nakagawa M, ''et al.'' |title=CMT4A: identification of a Hispanic GDAP1 founder mutation. |journal=Ann. Neurol. |volume=53 |issue= 3 |pages= 400-5 |year= 2003 |pmid= 12601710 |doi= 10.1002/ana.10505 }}
*{{cite journal  |vauthors=Birouk N, Azzedine H, Dubourg O |title=Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene |journal=Arch. Neurol. |volume=60 |issue= 4 |pages= 598–604 |year= 2003 |pmid= 12707075 |doi= 10.1001/archneur.60.4.598 |display-authors=etal}}
*{{cite journal  | author=Birouk N, Azzedine H, Dubourg O, ''et al.'' |title=Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. |journal=Arch. Neurol. |volume=60 |issue= 4 |pages= 598-604 |year= 2003 |pmid= 12707075 |doi= 10.1001/archneur.60.4.598 }}
*{{cite journal  |vauthors=Azzedine H, Ruberg M, Ente D |title=Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene |journal=Neuromuscul. Disord. |volume=13 |issue= 4 |pages= 341–6 |year= 2003 |pmid= 12868504 |doi=10.1016/S0960-8966(02)00281-X  |display-authors=etal}}
*{{cite journal  | author=Azzedine H, Ruberg M, Ente D, ''et al.'' |title=Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. |journal=Neuromuscul. Disord. |volume=13 |issue= 4 |pages= 341-6 |year= 2003 |pmid= 12868504 |doi= }}
*{{cite journal  |vauthors=Ammar N, Nelis E, Merlini L |title=Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease |journal=Neuromuscul. Disord. |volume=13 |issue= 9 |pages= 720–8 |year= 2003 |pmid= 14561495 |doi=10.1016/S0960-8966(03)00093-2  |display-authors=etal}}
*{{cite journal  | author=Ammar N, Nelis E, Merlini L, ''et al.'' |title=Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. |journal=Neuromuscul. Disord. |volume=13 |issue= 9 |pages= 720-8 |year= 2003 |pmid= 14561495 |doi= }}
*{{cite journal  |vauthors=Stojkovic T, Latour P, Viet G |title=Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene |journal=Neuromuscul. Disord. |volume=14 |issue= 4 |pages= 261–4 |year= 2004 |pmid= 15019704 |doi= 10.1016/j.nmd.2004.01.003 |display-authors=etal}}
*{{cite journal  | author=Stojkovic T, Latour P, Viet G, ''et al.'' |title=Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. |journal=Neuromuscul. Disord. |volume=14 |issue= 4 |pages= 261-4 |year= 2004 |pmid= 15019704 |doi= 10.1016/j.nmd.2004.01.003 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Pedrola L, Espert A, Wu X |title=GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria |journal=Hum. Mol. Genet. |volume=14 |issue= 8 |pages= 1087–94 |year= 2005 |pmid= 15772096 |doi= 10.1093/hmg/ddi121 |display-authors=etal}}
*{{cite journal  | author=Pedrola L, Espert A, Wu X, ''et al.'' |title=GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. |journal=Hum. Mol. Genet. |volume=14 |issue= 8 |pages= 1087-94 |year= 2005 |pmid= 15772096 |doi= 10.1093/hmg/ddi121 }}
*{{cite journal  |vauthors=Claramunt R, Pedrola L, Sevilla T |title=Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect |journal=J. Med. Genet. |volume=42 |issue= 4 |pages= 358–65 |year= 2006 |pmid= 15805163 |doi= 10.1136/jmg.2004.022178  | pmc=1736030 |display-authors=etal}}
*{{cite journal  | author=Claramunt R, Pedrola L, Sevilla T, ''et al.'' |title=Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. |journal=J. Med. Genet. |volume=42 |issue= 4 |pages= 358-65 |year= 2006 |pmid= 15805163 |doi= 10.1136/jmg.2004.022178 }}
*{{cite journal  |vauthors=Kabzińska D, Kochański A, Drac H |title=A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease |journal=J. Neurol. Sci. |volume=241 |issue= 1–2 |pages= 7–11 |year= 2006 |pmid= 16343542 |doi= 10.1016/j.jns.2005.10.002 |display-authors=etal}}
*{{cite journal  | author=Kabzińska D, Kochański A, Drac H, ''et al.'' |title=A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. |journal=J. Neurol. Sci. |volume=241 |issue= 1-2 |pages= 7-11 |year= 2006 |pmid= 16343542 |doi= 10.1016/j.jns.2005.10.002 }}
*{{cite journal  |vauthors=Biancheri R, Zara F, Striano P |title=GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features |journal=J. Neurol. |volume=253 |issue= 9 |pages= 1234–5 |year= 2007 |pmid= 16607474 |doi= 10.1007/s00415-006-0149-4 |display-authors=etal}}
*{{cite journal  | author=Biancheri R, Zara F, Striano P, ''et al.'' |title=GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. |journal=J. Neurol. |volume=253 |issue= 9 |pages= 1234-5 |year= 2007 |pmid= 16607474 |doi= 10.1007/s00415-006-0149-4 }}
*{{cite journal  |vauthors=Shield AJ, Murray TP, Board PG |title=Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase |journal=Biochem. Biophys. Res. Commun. |volume=347 |issue= 4 |pages= 859–66 |year= 2006 |pmid= 16857173 |doi= 10.1016/j.bbrc.2006.06.189 }}
*{{cite journal  | author=Shield AJ, Murray TP, Board PG |title=Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. |journal=Biochem. Biophys. Res. Commun. |volume=347 |issue= 4 |pages= 859-66 |year= 2006 |pmid= 16857173 |doi= 10.1016/j.bbrc.2006.06.189 }}
*{{cite journal  |vauthors=Baránková L, Vyhnálková E, Züchner S |title=GDAP1 mutations in Czech families with early-onset CMT |journal=Neuromuscul. Disord. |volume=17 |issue= 6 |pages= 482–9 |year= 2007 |pmid= 17433678 |doi= 10.1016/j.nmd.2007.02.010 |display-authors=etal}}
*{{cite journal  | author=Baránková L, Vyhnálková E, Züchner S, ''et al.'' |title=GDAP1 mutations in Czech families with early-onset CMT. |journal=Neuromuscul. Disord. |volume=17 |issue= 6 |pages= 482-9 |year= 2007 |pmid= 17433678 |doi= 10.1016/j.nmd.2007.02.010 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
{{refbegin}}
*{{cite book |first=Thomas D |last=Bird |title=Charcot-Marie-Tooth Neuropathy Type 2 |id=NBK1285 |date=30 January 2014 |pmid=20301462 |url=https://www.ncbi.nlm.nih.gov/books/NBK1285/}} In {{cite book |veditors=Pagon RA, Bird TD, Dolan CR |title=GeneReviews™ &#x05B;Internet&#x05D; |year=1993– |publisher=University of Washington, Seattle |location=Seattle WA |url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ |ref={{harvid|GeneReviews}}|display-editors=etal}}
*{{cite book |first=Thomas D |last=Bird |date=2013-09-26 |title=Charcot-Marie-Tooth Neuropathy Type 4 |id=NBK1468 |url=https://www.ncbi.nlm.nih.gov/books/NBK1468/ }} In {{harvnb|GeneReviews}}
*{{cite book |first1=Stephan |last1=Züchner |first2=Jeffery M |last2=Vance |date=2013-02-28 |title=Charcot-Marie-Tooth Neuropathy Type 4A |id=NBK1539 |url=https://www.ncbi.nlm.nih.gov/books/NBK1539/ }} In {{harvnb|GeneReviews}}
{{refend}}
 
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Latest revision as of 08:42, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Ganglioside-induced differentiation-associated protein 1 is a protein that in humans is encoded by the GDAP1 gene.[1][2]

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene.[2]

References

  1. ↑ Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.
  2. ↑ 2.0 2.1 "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".

Further reading

External links



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