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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q21.1
Chromosome location (bp)
145670852 - 145708148
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with NHERF1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005903[brush border] GO:0015879[carnitine transport] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0030165[PDZ domain binding] GO:0031526[brush border membrane] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0043495[protein-membrane adaptor activity] GO:0044070[regulation of anion transport] GO:0070062[extracellular exosome] GO:0072659[protein localization to plasma membrane] GO:0090314[positive regulation of protein targeting to membrane] GO:1904064[positive regulation of cation transmembrane transport] GO:1905477[positive regulation of protein localization to membrane] GO:1990961[xenobiotic detoxification by transmembrane export across the plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005124[scavenger receptor binding] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005903[brush border] GO:0015879[carnitine transport] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0030165[PDZ domain binding] GO:0031526[brush border membrane] GO:0031528[microvillus membrane] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0043495[protein-membrane adaptor activity] GO:0044070[regulation of anion transport] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0070062[extracellular exosome] GO:0072659[protein localization to plasma membrane] GO:0090314[positive regulation of protein targeting to membrane] GO:1904064[positive regulation of cation transmembrane transport] GO:1905477[positive regulation of protein localization to membrane] GO:1990961[xenobiotic detoxification by transmembrane export across the plasma membrane]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004222[metalloendopeptidase activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005903[brush border] GO:0006508[proteolysis] GO:0015879[carnitine transport] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0030165[PDZ domain binding] GO:0031526[brush border membrane] GO:0032414[positive regulation of ion transmembrane transporter activity] GO:0043495[protein-membrane adaptor activity] GO:0044070[regulation of anion transport] GO:0070062[extracellular exosome] GO:0072659[protein localization to plasma membrane] GO:0090314[positive regulation of protein targeting to membrane] GO:1904064[positive regulation of cation transmembrane transport] GO:1905477[positive regulation of protein localization to membrane] GO:1990961[xenobiotic detoxification by transmembrane export across the plasma membrane]
The Human Protein Atlas project is funded
