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{{Short description|Protein-coding gene in humans}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Non-imprinted in Prader-Willi/Angelman syndrome region protein 1''' is a [[protein]] that in humans is encoded by the ''NIPA1'' [[gene]].<ref name="pmid14508710">{{cite journal |vauthors=Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK | title = NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6) | journal = Am J Hum Genet | volume = 73 | issue = 4 | pages = 967–71 |date=Sep 2003 | pmid = 14508710 | pmc = 1180617 | doi = 10.1086/378817 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=123606}}</ref>
| update_page = yes
⚫
This gene encodes a potential [[transmembrane protein]] which functions either as a receptor or transporter molecule, possibly as a [[magnesium]] transporter.<ref>{{cite journal |vauthors=Goytain A, Hines RM, El-Husseini A, Quamme GA |title=NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. |journal=J. Biol. Chem. |volume=282 |issue= 11 |pages= 8060–8 |year= 2007 |pmid= 17166836 |doi= 10.1074/jbc.M610314200 |doi-access= free }}</ref> This protein is thought to play a role in [[nervous system]] development and maintenance. Alternative [[splice variant]]s have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human [[genetic disease]] autosomal dominant [[spastic paraplegia|spastic paraplegia 6]].<ref>{{cite journal |vauthors=Reed JA, Wilkinson PA, Patel H, etal |title=A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. |journal=Neurogenetics |volume=6 |issue= 2 |pages= 79–84 |year= 2005 |pmid= 15711826 |doi= 10.1007/s10048-004-0209-9 |s2cid=2236413 }}</ref><ref>{{cite journal |vauthors=Rainier S, Chai JH, Tokarz D, etal |title=NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 967–71 |year= 2003 |pmid= 14508710 |doi=10.1086/378817 | pmc=1180617}}</ref>
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| update_protein_box = yes
| update_summary = no
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Non imprinted in Prader-Willi/Angelman syndrome 1
| HGNCid = 17043
| Symbol = NIPA1
| AltSymbols =; FSP3; MGC102724; MGC35570; SPG6
| OMIM = 608145
| ECnumber =
| Homologene = 42327
| MGIid = 2442058
| GeneAtlas_image1 = PBB_GE_NIPA1_gnf1h07157_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process =
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 123606
| Hs_Ensembl = ENSG00000170113
| Hs_RefseqProtein = NP_653200
| Hs_RefseqmRNA = NM_144599
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 15
| Hs_GenLoc_start = 20594720
| Hs_GenLoc_end = 20637877
| Hs_Uniprot = Q7RTP0
| Mm_EntrezGene = 233280
| Mm_Ensembl = ENSMUSG00000047037
| Mm_RefseqmRNA = NM_153578
| Mm_RefseqProtein = NP_705806
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 55846486
| Mm_GenLoc_end = 55887606
| Mm_Uniprot = Q3TLT5
}}
}}
'''Non imprinted in Prader-Willi/Angelman syndrome 1''', also known as '''NIPA1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=123606| accessdate = }}</ref>
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{{PBB_Summary
| section_title =
⚫
| summary_text = This gene encodes a potential [[transmembrane protein]] which functions either as a receptor or transporter molecule, possibly as a [[magnesium]] transporter.<ref>{{cite journal | author=Goytain A, Hines RM, El-Husseini A, Quamme GA |title=NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. |journal=J. Biol. Chem. |volume=282 |issue= 11 |pages= 8060–8 |year= 2007 |pmid= 17166836 |doi= 10.1074/jbc.M610314200 }}</ref> This protein is thought to play a role in [[nervous system]] development and maintenance. Alternative [[splice variant]]s have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human [[genetic disease]] autosomal dominant [[spastic paraplegia|spastic paraplegia 6]].<ref>{{cite journal | author=Reed JA, Wilkinson PA, Patel H, ''et al.'' |title=A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. |journal=Neurogenetics |volume=6 |issue= 2 |pages= 79–84 |year= 2005 |pmid= 15711826 |doi= 10.1007/s10048-004-0209-9 }}</ref><ref>{{cite journal | author=Rainier S, Chai JH, Tokarz D, ''et al.'' |title=NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 967–71 |year= 2003 |pmid= 14508710 |doi=10.1086/378817}}</ref>
}}


==References==
==References==
{{reflist}}
{{reflist}}

==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Bittel DC, Kibiryeva N, Butler MG |title=Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. |journal=Pediatrics |volume=118 |issue= 4 |pages= e1276–83 |year= 2006 |pmid= 16982806 |doi= 10.1542/peds.2006-0424 |pmc= 5453799 }}
{{PBB_Further_reading
*{{cite journal |vauthors=Liu T, Qian WJ, Gritsenko MA, etal |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 | pmc=1850943 }}
| citations =
*{{cite journal | author=Bittel DC, Kibiryeva N, Butler MG |title=Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. |journal=Pediatrics |volume=118 |issue= 4 |pages= e1276–83 |year= 2006 |pmid= 16982806 |doi= 10.1542/peds.2006-0424 }}
*{{cite journal |vauthors=Munhoz RP, Kawarai T, Teive HA, etal |title=Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). |journal=Mov. Disord. |volume=21 |issue= 2 |pages= 279–81 |year= 2006 |pmid= 16267846 |doi= 10.1002/mds.20775 |s2cid=21070143 |doi-access=free }}
*{{cite journal | author=Liu T, Qian WJ, Gritsenko MA, ''et al.'' |title=Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. |journal=J. Proteome Res. |volume=4 |issue= 6 |pages= 2070–80 |year= 2006 |pmid= 16335952 |doi= 10.1021/pr0502065 }}
*{{cite journal |vauthors=Chen S, Song C, Guo H, etal |title=Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. |journal=Hum. Mutat. |volume=25 |issue= 2 |pages= 135–41 |year= 2006 |pmid= 15643603 |doi= 10.1002/humu.20126 |s2cid=5773016 |doi-access=free }}
*{{cite journal | author=Munhoz RP, Kawarai T, Teive HA, ''et al.'' |title=Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). |journal=Mov. Disord. |volume=21 |issue= 2 |pages= 279–81 |year= 2006 |pmid= 16267846 |doi= 10.1002/mds.20775 }}
*{{cite journal |vauthors=Chai JH, Locke DP, Greally JM, etal |title=Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 898–925 |year= 2003 |pmid= 14508708 |doi=10.1086/378816 | pmc=1180611 }}
*{{cite journal | author=Chen S, Song C, Guo H, ''et al.'' |title=Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. |journal=Hum. Mutat. |volume=25 |issue= 2 |pages= 135–41 |year= 2006 |pmid= 15643603 |doi= 10.1002/humu.20126 }}
*{{cite journal |vauthors=Toyoda N, Nagai S, Terashima Y, etal |title=Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins. |journal=Genome Res. |volume=13 |issue= 7 |pages= 1728–36 |year= 2003 |pmid= 12805275 |doi= 10.1101/gr.709603 | pmc=403746 }}
*{{cite journal | author=Chai JH, Locke DP, Greally JM, ''et al.'' |title=Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 898–925 |year= 2003 |pmid= 14508708 |doi= }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal | author=Toyoda N, Nagai S, Terashima Y, ''et al.'' |title=Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins. |journal=Genome Res. |volume=13 |issue= 7 |pages= 1728–36 |year= 2003 |pmid= 12805275 |doi= 10.1101/gr.709603 }}
*{{cite journal |vauthors=Fink JK, Jones SM, Sharp GB, etal |title=Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. |journal=Neurology |volume=46 |issue= 3 |pages= 835–6 |year= 1996 |pmid= 8618696 |doi= 10.1212/wnl.46.3.835|s2cid=39414032 }}
*{{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=Fink JK, Wu CT, Jones SM, etal |title=Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 188–92 |year= 1995 |pmid= 7825577 | pmc=1801321 }}
*{{cite journal | author=Fink JK, Jones SM, Sharp GB, ''et al.'' |title=Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes. |journal=Neurology |volume=46 |issue= 3 |pages= 835–6 |year= 1996 |pmid= 8618696 |doi= }}
*{{cite journal | author=Fink JK, Wu CT, Jones SM, ''et al.'' |title=Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 188–92 |year= 1995 |pmid= 7825577 |doi= }}
}}
{{refend}}
{{refend}}



{{gene-15-stub}}
[[Category:Genes mutated in mice]]

Latest revision as of 06:59, 18 December 2023

NIPA1
Identifiers
AliasesNIPA1, FSP3, SPG6, non imprinted in Prader-Willi/Angelman syndrome 1, SLC57A1, NIPA magnesium transporter 1
External IDsOMIM: 608145; MGI: 2442058; HomoloGene: 42327; GeneCards: NIPA1; OMA:NIPA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

123606

233280

Ensembl

ENSG00000170113
ENSG00000288478

ENSMUSG00000047037

UniProt

Q7RTP0
Q8TAY1

Q8BHK1

RefSeq (mRNA)

NM_144599
NM_001142275

NM_153578

RefSeq (protein)

NP_001135747
NP_653200
NP_001135747.1

NP_705806

Location (UCSC)Chr 15: 22.77 – 22.83 MbChr 7: 55.63 – 55.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene.[5][6] This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[7] This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.[8][9]

References[edit]

  1. ^ a b c ENSG00000288478 GRCh38: Ensembl release 89: ENSG00000170113, ENSG00000288478 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047037 – 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. ^ Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK (Sep 2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". Am J Hum Genet. 73 (4): 967–71. doi:10.1086/378817. PMC 1180617. PMID 14508710.
  6. ^ "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1".
  7. ^ Goytain A, Hines RM, El-Husseini A, Quamme GA (2007). "NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter". J. Biol. Chem. 282 (11): 8060–8. doi:10.1074/jbc.M610314200. PMID 17166836.
  8. ^ Reed JA, Wilkinson PA, Patel H, et al. (2005). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics. 6 (2): 79–84. doi:10.1007/s10048-004-0209-9. PMID 15711826. S2CID 2236413.
  9. ^ Rainier S, Chai JH, Tokarz D, et al. (2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". Am. J. Hum. Genet. 73 (4): 967–71. doi:10.1086/378817. PMC 1180617. PMID 14508710.

Further reading[edit]

Retrieved from "https://en.wikipedia.org/w/index.php?title=NIPA1&oldid=1190501786"