Description: Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA. RefSeq Summary (NM_178498): Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Transcript (Including UTRs) Position: hg19 chr11:26,688,566-26,743,574 Size: 55,009 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr11:26,692,649-26,743,261 Size: 50,613 Coding Exon Count: 15
ID:SC5AC_HUMAN DESCRIPTION: RecName: Full=Sodium-coupled monocarboxylate transporter 2; AltName: Full=Electroneutral sodium monocarboxylate cotransporter; AltName: Full=Low-affinity sodium-lactate cotransporter; AltName: Full=Solute carrier family 5 member 12; FUNCTION: Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D- hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity). ENZYME REGULATION: Cotransport of monocarboxylates and nicotinate strongly inhibited by ibuprofen, fenoprofen and ketoprofen. SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein. Note=Detected at the brush border membrane of the kidney. Colocalizes with viementin in Mueller cells (By similarity). SIMILARITY: Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Asthma C Ober et al. American journal of human genetics 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population., American journal of human genetics.
[PubMed 11022011]
Insulin James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903298]
Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
Insulin Resistance James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903298]
Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00474 - Sodium:solute symporter family
ModBase Predicted Comparative 3D Structure on Q1EHB4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006814 sodium ion transport GO:0035873 lactate transmembrane transport GO:0055085 transmembrane transport GO:1903825 organic acid transmembrane transport
BC041454 - Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12, mRNA (cDNA clone IMAGE:5187504), partial cds. AY299482 - Homo sapiens sodium-iodide related cotransporter mRNA, complete cds. BC049207 - Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12, mRNA (cDNA clone MGC:52019 IMAGE:5188979), complete cds. KJ903918 - Synthetic construct Homo sapiens clone ccsbBroadEn_13312 SLC5A12 gene, encodes complete protein. AL049270 - Homo sapiens mRNA; cDNA DKFZp564G223 (from clone DKFZp564G223). JD020140 - Sequence 1164 from Patent EP1572962. JD035838 - Sequence 16862 from Patent EP1572962. JD035762 - Sequence 16786 from Patent EP1572962. BC029048 - Homo sapiens cDNA clone IMAGE:5184198, partial cds. JD538986 - Sequence 520010 from Patent EP1572962. JD162981 - Sequence 144005 from Patent EP1572962. JD250718 - Sequence 231742 from Patent EP1572962. JD545404 - Sequence 526428 from Patent EP1572962. JD053957 - Sequence 34981 from Patent EP1572962. JD269331 - Sequence 250355 from Patent EP1572962. JD363693 - Sequence 344717 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q1EHB4 (Reactome details) participates in the following event(s):
R-HSA-8876312 SLC5A12 cotransports Na+ with LACT, PYR, NCA from extracellular region to cytosol R-HSA-427601 Multifunctional anion exchangers R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules