Homo sapiens Protein: SLC4A4 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-22867.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SLC4A4 | ||||||||||||||||||||||
Protein Name | solute carrier family 4, sodium bicarbonate cotransporter, member 4 | ||||||||||||||||||||||
Synonyms | hhNMC; HNBC1; KNBC; NBC1; NBC2; NBCe1-A; pNBC; SLC4A5; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000264485 | ||||||||||||||||||||||
InnateDB Gene | IDBG-22865 (SLC4A4) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269PubMed:10069984, ECO:0000269PubMed:12907161, ECO:0000269PubMed:9235899, ECO:0000269PubMed:9651366}. | ||||||||||||||||||||||
Subcellular Localization | Basolateral cell membrane {ECO:0000269PubMed:12907161, ECO:0000269PubMed:15273250}; Multi- pass membrane protein {ECO:0000269PubMed:12907161, ECO:0000269PubMed:15273250}. | ||||||||||||||||||||||
Disease Associations | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269PubMed:10545938, ECO:0000269PubMed:15471865, ECO:0000269PubMed:15713912, ECO:0000269PubMed:15930088}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17). | ||||||||||||||||||||||
Tissue Specificity | Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules. {ECO:0000269PubMed:10069984, ECO:0000269PubMed:11743927, ECO:0000269PubMed:12907161, ECO:0000269PubMed:14559244, ECO:0000269PubMed:15329059, ECO:0000269PubMed:9235899, ECO:0000269PubMed:9651366}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003020
Bicarbonate transporter, eukaryotic IPR003024 Sodium bicarbonate cotransporter IPR011531 Bicarbonate transporter, C-terminal IPR013769 Band 3 cytoplasmic domain IPR016152 Phosphotransferase/anion transporter |
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PFAM |
PF00955
PF07565 |
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PRINTS |
PR01231
PR01232 |
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PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9Y6R1 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9Y6R1 | ||||||||||||||||||||||
TrEMBL | A0A024RD97 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 8671 | ||||||||||||||||||||||
UniGene | Hs.592708 | ||||||||||||||||||||||
RefSeq | NP_001091954 | ||||||||||||||||||||||
HUGO | HGNC:11030 | ||||||||||||||||||||||
OMIM | 603345 | ||||||||||||||||||||||
CCDS | CCDS43236 | ||||||||||||||||||||||
HPRD | 04516 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB470072 AC019089 AC079230 AC096713 AC110783 AC112226 AF007216 AF011390 AF053753 AF053754 AF069510 AF157492 AF310248 BC030977 CH471057 | ||||||||||||||||||||||
GenPept | AAC39840 AAC51645 AAD42020 AAF21718 AAF21719 AAF80343 AAG47773 AAH30977 BAH58226 EAX05642 EAX05643 | ||||||||||||||||||||||