SLC25A1: Difference between revisions

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Revision as of 06:29, 11 September 2017

Tricarboxylate transport protein, mitochondrial is a protein that in humans is encoded by the SLC25A1 gene.^[1]^[2]^[3] Mutations in this gene have been associated with the inborn error of metabolism combined D-2- and L-2-hydroxyglutaric aciduria.^[4]

References

↑ Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (August 1996). "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region". Genomics. 29 (2): 451–6. doi:10.1006/geno.1995.9982. PMID 8666394.
↑ Iacobazzi V, Lauria G, Palmieri F (September 1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein". DNA Seq. 7 (3–4): 127–39. doi:10.3109/10425179709034029. PMID 9254007.
↑ "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1".
↑ Nota B, Struys EA, Pop A, et al. (2013). "Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria". Am. J. Hum. Genet. 92 (4): 627–631. doi:10.1016/j.ajhg.2013.03.009. PMC 3617390. PMID 23561848.

Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein–protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
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.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gong W, Emanuel BS, Collins J, et al. (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum. Mol. Genet. 5 (6): 789–800. doi:10.1093/hmg/5.6.789. PMID 8776594.
Goldmuntz E, Wang Z, Roe BA, Budarf ML (1997). "Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region". Genomics. 33 (2): 271–6. doi:10.1006/geno.1996.0191. PMID 8660975.
Bonofiglio D, Santoro A, Martello E, et al. (2013). "Mechanisms of divergent effects of activated peroxisome proliferator-activated receptor-γ on mitochondrial citrate carrier expression in 3T3-L1 fibroblasts and mature adipocytes". bbalip. 1831 (6): 1027. doi:10.1016/j.bbalip.2013.01.014. PMID 23370576.

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

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[pmid8666394-1] Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (August 1996). "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region". Genomics. 29 (2): 451–6. doi:10.1006/geno.1995.9982. PMID 8666394.

[pmid9254007-2] Iacobazzi V, Lauria G, Palmieri F (September 1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein". DNA Seq. 7 (3–4): 127–39. doi:10.3109/10425179709034029. PMID 9254007.

[entrez-3] "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1".

[pmid=_23561848-4] Nota B, Struys EA, Pop A, et al. (2013). "Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria". Am. J. Hum. Genet. 92 (4): 627–631. doi:10.1016/j.ajhg.2013.03.009. PMC 3617390. PMID 23561848.

[1]

[2]

[3]

[4]

@@ Line 1: / Line 1: @@
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+{{Use dmy dates|date=April 2016}}
-{{PBB_Controls
+{{Infobox_gene}}
-| update_page = yes
+'''Tricarboxylate transport protein, mitochondrial''' is a [[protein]] that in humans is encoded by the ''SLC25A1'' [[gene]].<ref name="pmid8666394">{{cite journal | vauthors = Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J | title = Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region | journal = Genomics | volume = 29 | issue = 2 | pages = 451–6 |date=August 1996 | pmid = 8666394 | pmc =  | doi =10.1006/geno.1995.9982  }}</ref><ref name="pmid9254007">{{cite journal | vauthors = Iacobazzi V, Lauria G, Palmieri F | title = Organization and sequence of the human gene for the mitochondrial citrate transport protein | journal = DNA Seq | volume = 7 | issue = 3–4 | pages = 127–39 |date=September 1997 | pmid = 9254007 | pmc =  | doi =  10.3109/10425179709034029}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6576| accessdate = }}</ref>
-| require_manual_inspection = no
+Mutations in this gene have been associated with the [[inborn error of metabolism]] [[2-Hydroxyglutaric aciduria|combined D-2- and L-2-hydroxyglutaric aciduria]].<ref name="pmid= 23561848">{{cite journal  |vauthors=Nota B, Struys EA, Pop A, etal | title=Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria. | journal=Am. J. Hum. Genet. |volume=92 |issue=  4|pages= 627–631 |year= 2013 |pmid= 23561848 |doi= 10.1016/j.ajhg.2013.03.009 |pmc=3617390}}</ref>
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-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
- | HGNCid = 10979
- | Symbol = SLC25A1
- | AltSymbols =; CTP; SLC20A3
- | OMIM = 190315
- | ECnumber =
- | Homologene = 4362
- | MGIid = 1345283
-  | GeneAtlas_image1 = PBB_GE_SLC25A1_210010_s_at_tn.png
-  | Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}}{{GNF_GO|id=GO:0005488 |text = binding}}{{GNF_GO|id=GO:0015137 |text = citrate transmembrane transporter activity}}
- | Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
- | Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006843 |text = mitochondrial citrate transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 6576
-    | Hs_Ensembl = ENSG00000100075
-    | Hs_RefseqProtein = NP_005975
-    | Hs_RefseqmRNA = NM_005984
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 22
-    | Hs_GenLoc_start = 17543092
-    | Hs_GenLoc_end = 17546260
-    | Hs_Uniprot = P53007
-    | Mm_EntrezGene = 13358
-    | Mm_Ensembl = ENSMUSG00000003528
-    | Mm_RefseqmRNA = NM_153150
-    | Mm_RefseqProtein = NP_694790
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 16
-    | Mm_GenLoc_start = 17838786
-    | Mm_GenLoc_end = 17841736
-    | Mm_Uniprot =
-  }}
-}}
-'''Solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1''', also known as '''SLC25A1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6576| accessdate = }}</ref>
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@@ Line 57: / Line 14: @@
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
@@ Line 63: / Line 20: @@
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
+*{{cite journal   |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein–protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134  | pmc=1847948 }}
-*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
+*{{cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein–protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
-*{{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=Gerhard DS, Wagner L, Feingold EA, etal |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 }}
-*{{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=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 }}
-*{{cite journal  | author=Iacobazzi V, Lauria G, Palmieri F |title=Organization and sequence of the human gene for the mitochondrial citrate transport protein. |journal=DNA Seq. |volume=7 |issue= 3-4 |pages= 127-39 |year= 1997 |pmid= 9254007 |doi=  }}
+*{{cite journal   |vauthors=Gong W, Emanuel BS, Collins J, etal |title=A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 789–800 |year= 1996 |pmid= 8776594 |doi=10.1093/hmg/5.6.789  }}
-*{{cite journal  | author=Gong W, Emanuel BS, Collins J, ''et al.'' |title=A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. |journal=Hum. Mol. Genet. |volume=5 |issue= 6 |pages= 789-800 |year= 1996 |pmid= 8776594 |doi=  }}
+*{{cite journal  | vauthors=Goldmuntz E, Wang Z, Roe BA, Budarf ML |title=Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. |journal=Genomics |volume=33 |issue= 2 |pages= 271–6 |year= 1997 |pmid= 8660975 |doi= 10.1006/geno.1996.0191 }}
-*{{cite journal  | author=Heisterkamp N, Mulder MP, Langeveld A, ''et al.'' |title=Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region. |journal=Genomics |volume=29 |issue= 2 |pages= 451-6 |year= 1996 |pmid= 8666394 |doi=  }}
-*{{cite journal  | author=Goldmuntz E, Wang Z, Roe BA, Budarf ML |title=Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. |journal=Genomics |volume=33 |issue= 2 |pages= 271-6 |year= 1997 |pmid= 8660975 |doi= 10.1006/geno.1996.0191 }}
 }}
+*{{cite journal   |vauthors=Bonofiglio D, Santoro A, Martello E, etal |title=Mechanisms of divergent effects of activated peroxisome proliferator-activated receptor-γ on mitochondrial citrate carrier expression in 3T3-L1 fibroblasts and mature adipocytes. |journal=bbalip |volume=1831 |issue=  6|pages= 1027 |year= 2013 |pmid=     23370576 |doi= 10.1016/j.bbalip.2013.01.014 }}
 {{refend}}
-{{membrane-protein-stub}}
 {{NLM content}}
 {{Membrane transport proteins}}
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+| update_page = yes
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 [[Category:Solute carrier family]]
-{{WikiDoc Sources}}
+{{membrane-protein-stub}}

SLC25A1: Difference between revisions

Revision as of 06:29, 11 September 2017

See also

References

Further reading

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