{ "uniprot_canonical_ac": "A2AJN7-1", "sequence": { "length": 862, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESKVHLLSDTIQGVTATVRGVQYEQSWLCIICTMKTLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPQPPKCKDFFPFGKGIWMDIMRRFPVYPMDFTDGIIGKSKSVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFGKYYYGHHYHTKRTSSLVSLLGIGRSPNSSLHTALNASLLASPVEMATTSSPGSTHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLIGSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAIGSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVDVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" }, "uniprot_id": "S4A11_MOUSE", "enzyme_annotation": [], "alternativenames": [ { "full": "Sodium borate cotransporter 1", "short": "NaBC1" }, { "full": "Bicarbonate transporter-related protein 1", "short": "" }, { "full": "Solute carrier family 4 member 11", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "Sodium bicarbonate transporter-like protein 11" }, "publication": [ { "title": "SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20185830", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7/publications", "id": "A2AJN7", "database": "UniProtKB" } ], "authors": "Braun T., Boettger T., Maier H., Kostin S., Frohlich H., Groger N., Olbrich A.", "date": "2010", "pmid": "20185830" } ], "glycosylation": [ { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#ptm_processing", "id": "A2AJN7-1", "database": "UniProtKB" } ], "relation": "attached", "position": 511, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#ptm_processing", "id": "A2AJN7-1", "database": "UniProtKB" } ], "relation": "attached", "position": 519, "glytoucan_ac": "", "type": "N-linked" } ], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#A2AJN7-1", "isoform_ac": "A2AJN7-1", "locus": { "end_pos": 130684437, "start_pos": 130696086, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000099362", "id": "ENSMUST00000099362", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000096963", "id": "ENSMUSP00000096963", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 862, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESKVHLLSDTIQGVTATVRGVQYEQSWLCIICTMKTLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPQPPKCKDFFPFGKGIWMDIMRRFPVYPMDFTDGIIGKSKSVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFGKYYYGHHYHTKRTSSLVSLLGIGRSPNSSLHTALNASLLASPVEMATTSSPGSTHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLIGSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAIGSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVDVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" } }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#A2AJN8-1", "isoform_ac": "A2AJN8-1", "locus": { "end_pos": 130691550, "start_pos": 130696086, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000127397", "id": "ENSMUST00000127397", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000117976", "id": "ENSMUSP00000117976", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 164, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:269356", "resource": "KEGG Pathway", "id": "mmu:269356", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#function", "annotation": "Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration. Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#function", "id": "A2AJN7", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Results provide evidence for a critical role of Vps35 in mouse corneal dystrophy; suggest that SLC4A11 appears to be a Vps35/retromer cargo, and Vps35-regulation of SLC4A11 trafficking may underlie Vps35/retromer regulation of corneal dystrophy. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "The declined tumor cell survival following inhibition of BCT could be the consequence of interplay of several inter-connected regulatory molecular events.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Data shows that the function of SLCA11 is to facilitate the movement of water across the basolateral corneal epithelium.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Successful knockout of the Slc4a11 gene was confirmed by immunohistochemistry and RT-PCR. Slit-lamp photography and AS-OCT showed progressive corneal edema. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Loss of SLC4A11 leads to morphological changes in the fibrocytes and deafness.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Results demonstrate the importance of NaBC1 in the audio-vestibular system and provide support for the hypothesis that SLC4A11 should be considered a potential candidate gene in patients with isolated sensorineural vestibular hearing abnormalities.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZVP9-1", "protein_name": "", "sequence": { "length": 862, "sequence": "MSQNEHCQDSGEYFSAATLGYFKNDTDDNPDVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDIEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFAQDPNHAEPDCDLDLLMAKLFTDAGGPMESKVHLLSDTIQGVTATVRGLQYEQSWLCIVCTMKSLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPRPPKCKDFFPFGKGIWVDIMRRFPVYPLDFTDGIIGKGKTVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFWKYYYGHHYHTKRTSSLASLLGISRSPNTSLHTALNTSFLASPIEMTTASSPISTHSNQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLISSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAISSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVNVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12931", "id": "12931", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2AJN7/", "id": "A2AJN7", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8NBS3-1", "protein_name": "Sodium bicarbonate transporter-like protein 11", "sequence": { "length": 891, "sequence": "MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNFKEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGLGASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12931", "id": "12931", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "ac": "NP_001074631.1", "name": "sodium bicarbonate transporter-like protein 11", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "protein dimerization activity", "id": "GO:0046983" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "symporter activity", "id": "GO:0015293" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "sodium channel activity", "id": "GO:0005272" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "inorganic anion exchanger activity", "id": "GO:0005452" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015252", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "proton channel activity", "id": "GO:0015252" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015301", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "anion:anion antiporter activity", "id": "GO:0015301" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046715", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "active borate transmembrane transporter activity", "id": "GO:0046715" } ], "total": 8, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "sodium ion transport", "id": "GO:0006814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "bicarbonate transport", "id": "GO:0015701" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030003", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "cellular cation homeostasis", "id": "GO:0030003" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "regulation of intracellular pH", "id": "GO:0051453" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050801", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "ion homeostasis", "id": "GO:0050801" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042044", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "fluid transport", "id": "GO:0042044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046713", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "borate transport", "id": "GO:0046713" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "proton transmembrane transport", "id": "GO:1902600" } ], "total": 8, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 48, "annotation": "n_glycosylation_sequon", "start_pos": 46 }, { "end_pos": 118, "annotation": "n_glycosylation_sequon", "start_pos": 116 }, { "end_pos": 449, "annotation": "n_glycosylation_sequon", "start_pos": 447 }, { "end_pos": 513, "annotation": "n_glycosylation_sequon", "start_pos": 511 }, { "end_pos": 521, "annotation": "n_glycosylation_sequon", "start_pos": 519 } ], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:269356", "id": "mmu:269356", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000074796", "id": "ENSMUSG00000074796", "database": "Bgee" }, { "url": "http://www.informatics.jax.org/marker/MGI:2138987", "id": "2138987", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/YDHNVSS/", "id": "YDHNVSS", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003020", "id": "IPR003020", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011531", "id": "IPR011531", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016152", "id": "IPR016152", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/269356", "id": "269356", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF00955", "id": "PF00955", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453", "id": "PTHR11453", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2AJN7", "id": "PR_A2AJN7", "database": "PRO" } ], "expression_disease": [], "uniprot_ac": "A2AJN7", "disease": [], "mass": { "monoisotopic_mass": 96751.0, "chemical_mass": 96751.0 }, "expression_tissue": [], "gene": [ { "url": "http://www.informatics.jax.org/marker/MGI:2138987", "name": "Slc4a11", "locus": { "end_pos": 130684113, "start_pos": 130697519, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000074796", "id": "ENSMUSG00000074796", "database": "Ensembl Gene" } ] } } ] }