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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.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
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
q23.3
Chromosome location (bp)
162069691 - 162370475
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation 1....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]...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.
O75052 [Direct mapping] Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney diseases 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:0002102[podosome] GO:0003062[regulation of heart rate by chemical signal] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005901[caveola] GO:0010628[positive regulation of gene expression] GO:0010750[positive regulation of nitric oxide mediated signal transduction] GO:0030018[Z disc] GO:0030175[filopodium] GO:0030315[T-tubule] GO:0031965[nuclear membrane] GO:0033017[sarcoplasmic reticulum membrane] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0045428[regulation of nitric oxide biosynthetic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0048471[perinuclear region of cytoplasm] GO:0050998[nitric-oxide synthase binding] GO:0050999[regulation of nitric-oxide synthase activity] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0060307[regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070161[anchoring junction] GO:0098901[regulation of cardiac muscle cell action potential] GO:0098974[postsynaptic actin cytoskeleton organization] GO:0098978[glutamatergic synapse] GO:1901381[positive regulation of potassium ion transmembrane transport] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1902261[positive regulation of delayed rectifier potassium channel activity] GO:1902514[regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1903762[positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization] GO:2000170[positive regulation of peptidyl-cysteine S-nitrosylation]
E9PIP8 [Direct mapping] Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
O75052 [Direct mapping] Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
Show all
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney diseases 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:0002102[podosome] GO:0003062[regulation of heart rate by chemical signal] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005901[caveola] GO:0010628[positive regulation of gene expression] GO:0010750[positive regulation of nitric oxide mediated signal transduction] GO:0030018[Z disc] GO:0030175[filopodium] GO:0030315[T-tubule] GO:0031965[nuclear membrane] GO:0033017[sarcoplasmic reticulum membrane] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0045428[regulation of nitric oxide biosynthetic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0048471[perinuclear region of cytoplasm] GO:0050998[nitric-oxide synthase binding] GO:0050999[regulation of nitric-oxide synthase activity] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0060307[regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070161[anchoring junction] GO:0098901[regulation of cardiac muscle cell action potential] GO:0098974[postsynaptic actin cytoskeleton organization] GO:0098978[glutamatergic synapse] GO:1901381[positive regulation of potassium ion transmembrane transport] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1902261[positive regulation of delayed rectifier potassium channel activity] GO:1902514[regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1903762[positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization] GO:2000170[positive regulation of peptidyl-cysteine S-nitrosylation]
O75052 [Direct mapping] Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002102[podosome] GO:0003062[regulation of heart rate by chemical signal] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005901[caveola] GO:0010628[positive regulation of gene expression] GO:0010750[positive regulation of nitric oxide mediated signal transduction] GO:0030018[Z disc] GO:0030175[filopodium] GO:0030315[T-tubule] GO:0031965[nuclear membrane] GO:0033017[sarcoplasmic reticulum membrane] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0045428[regulation of nitric oxide biosynthetic process] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0048471[perinuclear region of cytoplasm] GO:0050998[nitric-oxide synthase binding] GO:0050999[regulation of nitric-oxide synthase activity] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0060307[regulation of ventricular cardiac muscle cell membrane repolarization] GO:0070161[anchoring junction] GO:0098901[regulation of cardiac muscle cell action potential] GO:0098974[postsynaptic actin cytoskeleton organization] GO:0098978[glutamatergic synapse] GO:1901381[positive regulation of potassium ion transmembrane transport] GO:1901841[regulation of high voltage-gated calcium channel activity] GO:1902261[positive regulation of delayed rectifier potassium channel activity] GO:1902514[regulation of calcium ion transmembrane transport via high voltage-gated calcium channel] GO:1903762[positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization] GO:2000170[positive regulation of peptidyl-cysteine S-nitrosylation]
The Human Protein Atlas project is funded
