SLC25A1: Difference between revisions

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'''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>
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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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==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| 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}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
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[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
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{{membrane-protein-stub}}

Revision as of 06:29, 11 September 2017

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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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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]


See also

References

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

Further reading

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


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