Gene
slc25a1a
- ID
- ZDB-GENE-040426-1172
- Name
- solute carrier family 25 member 1a
- Symbol
- slc25a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable citrate secondary active transmembrane transporter activity. Involved in neuromuscular junction development. Acts upstream of or within regulation of mitochondrion organization. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; combined D-2- and L-2-hydroxyglutaric aciduria; and congenital myasthenic syndrome. Orthologous to human SLC25A1 (solute carrier family 25 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Catalina-Rodriguez et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-slc25a1a | N/A | Catalina-Rodriguez et al., 2012 |
MO2-slc25a1a | N/A | Chaouch et al., 2014 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
combined D-2- and L-2-hydroxyglutaric aciduria | Alliance | Combined D-2- and L-2-hydroxyglutaric aciduria | 615182 |
Myasthenic syndrome, congenital, 23, presynaptic | 618197 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Mitochondrial carrier domain superfamily | Mitochondrial substrate/solute carrier | Tricarboxylate transport protein-like |
---|---|---|---|---|---|
UniProtKB:Q6PGY3 | InterPro | 359 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
slc25a1a-201
(1)
|
Ensembl | 1,909 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-175G6 | ZFIN Curated Data | |
Encodes | EST | IMAGE:7157930 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:63578 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_200607 (1) | 1926 nt | ||
Genomic | GenBank:CR926463 (2) | 167657 nt | ||
Polypeptide | UniProtKB:Q6PGY3 (1) | 359 aa |
Species | Symbol | Chromosome | Accession # | Evidence |
---|---|---|---|---|
Human | SLC25A1 | 22 | Amino acid sequence comparison (4) |
- Wang, J.X., Zhang, Y.Y., Qian, Y.C., Qian, Y.F., Jin, A.H., Wang, M., Luo, Y., Qiao, F., Zhang, M.L., Chen, L.Q., Du, Z.Y. (2024) Inhibition of mitochondrial citrate shuttle alleviates metabolic syndromes induced by high-fat diet. American journal of physiology. Cell physiology. 327(3):C737-C749
- Banu, S., Gaur, N., Nair, S., Ravikrishnan, T., Khan, S., Mani, S., Bharathi, S., Mandal, K., Kuram, N.A., Vuppaladadium, S., Ravi, R., Murthy, C.L.N., Quoseena, M., Babu, N.S., Idris, M.M. (2022) Transcriptomic and proteomic analysis of epimorphic regeneration in zebrafish caudal fin tissue. Genomics. 114(2):110300
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Foulkes, M.J., Henry, K.M., Rougeot, J., Hooper-Greenhill, E., Loynes, C.A., Jeffrey, P., Fleming, A., Savage, C.O., Meijer, A.H., Jones, S., Renshaw, S.A. (2017) Expression and regulation of drug transporters in vertebrate neutrophils. Scientific Reports. 7:4967
- Smith, L.C., Clark, J.C., Bisesi, J.H., Ferguson, P.L., Sabo-Attwood, T. (2016) Differential recruitment of co-regulatory proteins to the human estrogen receptor 1 in response to xenoestrogens. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 19:159-73
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Guna, A., Butcher, N.J., Bassett, A.S. (2015) Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. Journal of neurodevelopmental disorders. 7:18
- Chaouch, A., Porcelli, V., Cox, D., Edvardson, S., Scarcia, P., De Grassi, A., Pierri, C.L., Cossins, J., Laval, S.H., Griffin, H., Müller, J.S., Evangelista, T., Töpf, A., Abicht, A., Huebner, A., von der Hagen, M., Bushby, K., Straub, V., Horvath, R., Elpeleg, O., Palace, J., Senderek, J., Beeson, D., Palmieri, L., Lochmüller, H. (2014) Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of neuromuscular diseases. 1:75-90
- Catalina-Rodriguez, O., Kolukula, V.K., Tomita, Y., Preet, A., Palmieri, F., Wellstein, A., Byers, S., Giaccia, A.J., Glasgow, E., Albanese, C., and Avantaggiati, M.L. (2012) The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis. Oncotarget. 3(10):1220-1235
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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