Acetyl-coenzyme A transporter 1: Difference between revisions

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Importing Wikidata short description: "Protein-coding gene in the species Homo sapiens" (Shortdesc helper)
 
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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Acetyl-coenzyme A transporter 1''' also known as '''solute carrier family 33 member 1''' (SLC33A1) is a [[protein]] that in humans is encoded by the SLC33A1 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1 | url = http://www.ncbi.nlm.nih.gov/gene/9197 }}</ref>
'''Acetyl-coenzyme A transporter 1''' also known as '''solute carrier family 33 member 1''' (SLC33A1) is a [[protein]] that in humans is encoded by the SLC33A1 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1 | url = https://www.ncbi.nlm.nih.gov/gene/9197 }}</ref>


==Function==
== Function ==


The protein encoded by this gene is required for the formation of O-acetylated (Ac) [[ganglioside]]s. The encoded protein is predicted to contain 6 to 10 [[transmembrane domain]]s, and a [[leucine zipper]] motif in transmembrane domain III.<ref name="entrez"/>
The protein encoded by this gene is required for the formation of O-acetylated (Ac) [[ganglioside]]s. The encoded protein is predicted to contain 6 to 10 [[transmembrane domain]]s, and a [[leucine zipper]] motif in transmembrane domain III.<ref name="entrez"/>
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Kanamori A, Nakayama J, Fukuda MN, Stallcup WB, Sasaki K, Fukuda M, Hirabayashi Y | title = Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 7 | pages = 2897–902 | date = April 1997 | pmid = 9096318 | pmc = 20294 | doi = 10.1073/pnas.94.7.2897 | bibcode = 1997PNAS...94.2897K | doi-access = free }}
*{{Cite journal
* {{cite journal | vauthors = Jonas MC, Pehar M, Puglielli L | title = AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability | journal = Journal of Cell Science | volume = 123 | issue = Pt 19 | pages = 3378–88 | date = October 2010 | pmid = 20826464 | pmc = 2939804 | doi = 10.1242/jcs.068841 }}
| doi = 10.1073/pnas.94.7.2897
* {{cite journal | vauthors = Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L | title = A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42) | journal = European Journal of Human Genetics | volume = 18 | issue = 9 | pages = 1065–7 | date = September 2010 | pmid = 20461110 | pmc = 2987419 | doi = 10.1038/ejhg.2010.68 }}
| last1 = Kanamori | first1 = A.
* {{cite journal | vauthors = Pehar M, Jonas MC, Hare TM, Puglielli L | title = SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway | journal = The Journal of Biological Chemistry | volume = 287 | issue = 35 | pages = 29921–30 | date = August 2012 | pmid = 22787145 | pmc = 3436137 | doi = 10.1074/jbc.M112.363911 | doi-access = free }}
| last2 = Nakayama | first2 = J.
* {{cite journal | vauthors = Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y | title = A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42) | journal = American Journal of Human Genetics | volume = 83 | issue = 6 | pages = 752–9 | date = December 2008 | pmid = 19061983 | pmc = 2668077 | doi = 10.1016/j.ajhg.2008.11.003 }}
| last3 = Fukuda | first3 = M. N.
* {{cite journal | vauthors = Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J | title = Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin | journal = American Journal of Human Genetics | volume = 90 | issue = 1 | pages = 61–8 | date = January 2012 | pmid = 22243965 | pmc = 3257879 | doi = 10.1016/j.ajhg.2011.11.030 }}
| last4 = Stallcup | first4 = W. B.
* {{cite journal | vauthors = Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y | title = Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred | journal = Prenatal Diagnosis | volume = 30 | issue = 5 | pages = 485–6 | date = May 2010 | pmid = 20306460 | doi = 10.1002/pd.2485 | s2cid = 6533085 }}
| last5 = Sasaki | first5 = K.
* {{cite journal | vauthors = Hirabayashi Y, Kanamori A, Nomura KH, Nomura K | title = The acetyl-CoA transporter family SLC33 | journal = Pflügers Archiv | volume = 447 | issue = 5 | pages = 760–2 | date = February 2004 | pmid = 12739170 | doi = 10.1007/s00424-003-1071-6 | s2cid = 21247182 }}
| last6 = Fukuda | first6 = M.
| last7 = Hirabayashi | first7 = Y.
| title = Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: A putative acetyl-CoA transporter
| journal = Proceedings of the National Academy of Sciences of the United States of America
| volume = 94
| issue = 7
| pages = 2897–2902
| year = 1997
| pmid = 9096318
| pmc = 20294
}}
*{{Cite journal
| last1 = Jonas | first1 = M. C.
| last2 = Pehar | first2 = M.
| last3 = Puglielli | first3 = L.
| doi = 10.1242/jcs.068841
| title = AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability
| journal = Journal of Cell Science
| volume = 123
| issue = 19
| pages = 3378–3388
| year = 2010
| pmid = 20826464
| pmc =2939804
}}
*{{Cite journal
| last1 = Schlipf | first1 = N. A.
| last2 = Beetz | first2 = C.
| last3 = Schüle | first3 = R.
| last4 = Stevanin | first4 = G.
| last5 = Erichsen | first5 = A. K.
| last6 = Forlani | first6 = S.
| last7 = Zaros | first7 = C. C.
| last8 = Karle | first8 = K.
| last9 = Klebe | first9 = S.
| last10 = Klimpe
| doi = 10.1038/ejhg.2010.68 | first10 = S.
| last11 = Durr | first11 = A.
| last12 = Otto | first12 = S.
| last13 = Tallaksen | first13 = C. M. E.
| last14 = Riess | first14 = O.
| last15 = Brice | first15 = A.
| last16 = Bauer | first16 = P.
| last17 = Schöls | first17 = L.
| title = A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
| journal = European Journal of Human Genetics
| volume = 18
| issue = 9
| pages = 1065–1067
| year = 2010
| pmid = 20461110
| pmc =2987419
}}
*{{Cite journal
| last1 = Pehar | first1 = M.
| last2 = Jonas | first2 = M. C.
| last3 = Hare | first3 = T. M.
| last4 = Puglielli | first4 = L.
| title = SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway
| doi = 10.1074/jbc.M112.363911
| journal = Journal of Biological Chemistry
| volume = 287
| issue = 35
| pages = 29921–29930
| year = 2012
| pmid = 22787145
| pmc =3436137
}}
*{{Cite journal
| last1 = Lin | first1 = P.
| last2 = Li | first2 = J.
| last3 = Liu | first3 = Q.
| last4 = Mao | first4 = F.
| last5 = Li | first5 = J.
| last6 = Qiu | first6 = R.
| last7 = Hu | first7 = H.
| last8 = Song | first8 = Y.
| last9 = Yang | first9 = Y.
| last10 = Gao
| doi = 10.1016/j.ajhg.2008.11.003 | first10 = G.
| last11 = Yan | first11 = C.
| last12 = Yang | first12 = W.
| last13 = Shao | first13 = C.
| last14 = Gong | first14 = Y.
| title = A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
| journal = The American Journal of Human Genetics
| volume = 83
| issue = 6
| pages = 752–759
| year = 2008
| pmid = 19061983
| pmc =2668077
}}
*{{Cite journal
| last1 = Huppke | first1 = P.
| last2 = Brendel | first2 = C.
| last3 = Kalscheuer | first3 = V.
| last4 = Korenke | first4 = G. C.
| last5 = Marquardt | first5 = I.
| last6 = Freisinger | first6 = P.
| last7 = Christodoulou | first7 = J.
| last8 = Hillebrand | first8 = M.
| last9 = Pitelet | first9 = G.
| doi = 10.1016/j.ajhg.2011.11.030
| last10 = Wilson | first10 = C.
| last11 = Gruber-Sedlmayr | first11 = U.
| last12 = Ullmann | first12 = R.
| last13 = Haas | first13 = S.
| last14 = Elpeleg | first14 = O.
| last15 = Nürnberg | first15 = G.
| last16 = Nürnberg | first16 = P.
| last17 = Dad | first17 = S.
| last18 = Møller | first18 = L. B.
| last19 = Kaler | first19 = S. G.
| last20 = Gärtner | first20 = J.
| title = Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
| journal = The American Journal of Human Genetics
| volume = 90
| issue = 1
| pages = 61–68
| year = 2012
| pmid = 22243965
| pmc =3257879
}}
*{{Cite journal
| last1 = Lin | first1 = P.
| last2 = Mao | first2 = F.
| last3 = Liu | first3 = Q.
| last4 = Shao | first4 = C.
| last5 = Yan | first5 = C.
| last6 = Gong | first6 = Y.
| doi = 10.1002/pd.2485
| title = Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused bySLC33A1mutation in a Chinese kindred
| journal = Prenatal Diagnosis
| volume = 30
| issue = 5
| pages = 485–486
| year = 2010
| pmid = 20306460
| pmc =
}}
*{{Cite journal
| last1 = Hirabayashi | first1 = Y.
| last2 = Kanamori | first2 = A.
| last3 = Nomura | first3 = K. H.
| last4 = Nomura | first4 = K.
| title = The acetyl-CoA transporter family SLC33
| doi = 10.1007/s00424-003-1071-6
| journal = Pfl�gers Archiv European Journal of Physiology
| volume = 447
| issue = 5
| pages = 760–762
| year = 2004
| pmid = 12739170
| pmc =
}}
{{refend}}
{{refend}}


Latest revision as of 09:28, 7 March 2022

SLC33A1
Identifiers
AliasesSLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDsOMIM: 603690; MGI: 1332247; HomoloGene: 3476; GeneCards: SLC33A1; OMA:SLC33A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

9197

11416

Ensembl

ENSG00000169359

ENSMUSG00000027822

UniProt

O00400

Q99J27

RefSeq (mRNA)

NM_001190992
NM_004733
NM_001363883

NM_001272035
NM_015728
NM_001331067

RefSeq (protein)

NP_001177921
NP_004724
NP_001350812

NP_001258964
NP_001317996
NP_056543

Location (UCSC)Chr 3: 155.82 – 155.85 MbChr 3: 63.84 – 63.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.[5]

Function[edit]

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.[5]

Clinical significance[edit]

Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169359 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027822 – 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. ^ a b c "Entrez Gene: Solute carrier family 33 (acetyl-CoA transporter), member 1".

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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