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HUMAN:TXTP
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | SLC25A1 (synonyms: SLC20A3) | |
| Protein Name(s) | Tricarboxylate transport protein, mitochondrial
Citrate transport protein CTP Solute carrier family 25 member 1 Tricarboxylate carrier protein | |
| External Links | ||
| UniProt | P53007 | |
| EMBL | U25147 L76134 L75823 AK292313 BC004980 BC008061 | |
| CCDS | CCDS13758.1 | |
| PIR | G01789 | |
| RefSeq | NP_005975.1 | |
| UniGene | Hs.111024 | |
| ProteinModelPortal | P53007 | |
| SMR | P53007 | |
| BioGrid | 112464 | |
| IntAct | P53007 | |
| MINT | MINT-1153318 | |
| STRING | 9606.ENSP00000215882 | |
| GuidetoPHARMACOLOGY | 1051 | |
| TCDB | 2.A.29.7.2 | |
| PhosphoSite | P53007 | |
| DMDM | 20141931 | |
| MaxQB | P53007 | |
| PaxDb | P53007 | |
| PeptideAtlas | P53007 | |
| PRIDE | P53007 | |
| DNASU | 6576 | |
| Ensembl | ENST00000215882 | |
| GeneID | 6576 | |
| KEGG | hsa:6576 | |
| UCSC | uc002zoy.4 | |
| CTD | 6576 | |
| GeneCards | GC22M019163 | |
| H-InvDB | HIX0040279 | |
| HGNC | HGNC:10979 | |
| HPA | HPA030183 | |
| MIM | 190315 615182 | |
| neXtProt | NX_P53007 | |
| Orphanet | 356978 | |
| PharmGKB | PA35855 | |
| eggNOG | NOG306627 | |
| GeneTree | ENSGT00550000074856 | |
| HOVERGEN | HBG103009 | |
| InParanoid | P53007 | |
| KO | K15100 | |
| OMA | GITFMIY | |
| PhylomeDB | P53007 | |
| TreeFam | TF105786 | |
| Reactome | REACT_1319 REACT_1520 | |
| ChiTaRS | SLC25A1 | |
| GeneWiki | SLC25A1 | |
| GenomeRNAi | 6576 | |
| NextBio | 25587 | |
| PRO | PR:P53007 | |
| Proteomes | UP000005640 | |
| Bgee | P53007 | |
| CleanEx | HS_SLC25A1 | |
| ExpressionAtlas | P53007 | |
| Genevestigator | P53007 | |
| GO | GO:0070062 GO:0016021 GO:0005743 GO:0005634 GO:0015137 GO:0005975 GO:0044255 GO:0015746 GO:0006094 GO:0006006 GO:0035338 GO:0044281 GO:0019432 | |
| Gene3D | 1.50.40.10 | |
| InterPro | IPR002067 IPR018108 IPR023395 | |
| Pfam | PF00153 | |
| PRINTS | PR00926 | |
| SUPFAM | SSF103506 | |
| PROSITE | PS50920 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
part_of |
GO:0070062 |
extracellular exosome |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
part_of:(UBERON:0001088) |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005634 |
nucleus |
ECO:0007005 |
high throughput direct assay evidence used in manual assertion |
C |
part_of:(CL:0000019) |
Seeded From UniProt |
complete | ||
|
enables |
GO:0071913 |
citrate secondary active transmembrane transporter activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006843 |
mitochondrial citrate transmembrane transport |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0037912 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8JZU2 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0022857 |
transmembrane transporter activity |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
| GO:0006843 |
mitochondrial citrate transport |
ECO:0000315 |
P |
Figure 2 A and B shows a comparison of urine samples of individuals with a recessive mutation to those without the mutation. The graph shows that individuals with the mutation have a lower amount of citrate and isocitrate. |
complete | |||||
|
involved_in |
GO:0055085 |
transmembrane transport |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0015137 |
citrate transmembrane transporter activity |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0046949 |
fatty-acyl-CoA biosynthetic process |
Reactome:R-HSA-75105 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
enables |
GO:0015142 |
tricarboxylic acid transmembrane transporter activity |
Reactome:R-HSA-75849 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
F |
Seeded From UniProt |
complete | |
|
involved_in |
GO:0006094 |
gluconeogenesis |
Reactome:R-HSA-70263 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005743 |
mitochondrial inner membrane |
Reactome:R-HSA-75849 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
part_of |
GO:0005743 |
mitochondrial inner membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005739 |
mitochondrion |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
- ↑ de Mateo, S et al. (2011) Proteomic characterization of the human sperm nucleus. Proteomics 11 2714-26 PubMed GONUTS page
- ↑ Majd, H et al. (2018) Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. Biochim Biophys Acta Bioenerg 1859 1-7 PubMed GONUTS page
- ↑ Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Nota, B et al. (2013) Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am. J. Hum. Genet. 92 627-31 PubMed GONUTS page
- ↑ Heisterkamp, N et al. (1995) Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region. Genomics 29 451-6 PubMed GONUTS page
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