Human Gene NOS1AP (ENST00000493151.1) Description and Page Index
  Description: Homo sapiens nitric oxide synthase 1 adaptor protein (NOS1AP), transcript variant 2, mRNA. (from RefSeq NM_001126060)
RefSeq Summary (NM_001126060): 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].
Gencode Transcript: ENST00000493151.1
Gencode Gene: ENSG00000198929.13
Transcript (Including UTRs)
   Position: hg38 chr1:162,362,983-162,370,023 Size: 7,041 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr1:162,365,350-162,367,467 Size: 2,118 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:162,362,983-162,370,023)mRNA (may differ from genome)Protein (211 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CAPON_HUMAN
DESCRIPTION: RecName: Full=Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein; AltName: Full=C-terminal PDZ ligand of neuronal nitric oxide synthase protein; AltName: Full=Nitric oxide synthase 1 adaptor protein;
FUNCTION: 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).
SUBUNIT: Interacts with the PDZ domain of NOS1 or the second PDZ domain of DLG4 through its C-terminus. Interacts with RASD1 and SYN1, SYN2 and SYN3 via its PID domain. Forms a ternary complex with NOS1 and RASD1. Forms a ternary complex with NOS1 and SYN1 (By similarity).
POLYMORPHISM: Genetic variation in NOS1AP influences the electrocardiographic QT interval [MIM:610141]. The QT interval is defined as the time from the beginning of the Q wave to the end of the T wave, representing the duration of ventricular electrical activity. The QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with considerable medical relevance: both high and low values are associated with increased risk of cardiovascular morbidity and mortality.
SIMILARITY: Contains 1 PID domain.
SEQUENCE CAUTION: Sequence=BAA32309.2; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: NOS1AP
Diseases sorted by gene-association score: long qt syndrome 1* (8), long qt syndrome (3), schizophrenia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.78 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 32.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -744.602367-0.315 Picture PostScript Text
3' UTR -835.502556-0.327 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom

Pfam Domains:
PF00640 - Phosphotyrosine interaction domain (PTB/PID)

ModBase Predicted Comparative 3D Structure on O75052
FrontTopSide
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0050998 nitric-oxide synthase binding

Biological Process:
GO:0003062 regulation of heart rate by chemical signal
GO:0010628 positive regulation of gene expression
GO:0010750 positive regulation of nitric oxide mediated signal transduction
GO:0045428 regulation of nitric oxide biosynthetic process
GO:0045429 positive regulation of nitric oxide biosynthetic process
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:0098901 regulation of cardiac muscle cell action potential
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

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005901 caveola
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0033017 sarcoplasmic reticulum membrane
GO:0048471 perinuclear region of cytoplasm
GO:0031965 nuclear membrane
GO:0042383 sarcolemma
GO:1902937 inward rectifier potassium channel complex
GO:1990454 L-type voltage-gated calcium channel complex


-  Descriptions from all associated GenBank mRNAs
  BC041382 - Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein, mRNA (cDNA clone IMAGE:5275285).
AB007933 - Homo sapiens KIAA0464 mRNA for KIAA0464 protein.
BC112295 - Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein, mRNA (cDNA clone MGC:138500 IMAGE:8327763), complete cds.
BC143771 - Homo sapiens cDNA clone MGC:177302 IMAGE:9052285, complete cds.
BC143780 - Homo sapiens cDNA clone IMAGE:9052294.
BC111928 - Synthetic construct Homo sapiens clone IMAGE:40080755, MGC:133468 NOS1AP protein (NOS1AP) mRNA, encodes complete protein.
BC118499 - Synthetic construct Homo sapiens clone IMAGE:40080763, MGC:155336 NOS1AP protein (NOS1AP) mRNA, encodes complete protein.
AB587549 - Synthetic construct DNA, clone: pF1KE1067, Homo sapiens NOS1AP gene for nitric oxide synthase 1 (neuronal) adaptor protein, without stop codon, in Flexi system.
AY841899 - Homo sapiens CAPON short form mRNA, complete cds, alternatively spliced.
AF037070 - Homo sapiens carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase mRNA, partial cds.
JD138726 - Sequence 119750 from Patent EP1572962.
JD384187 - Sequence 365211 from Patent EP1572962.
JD424606 - Sequence 405630 from Patent EP1572962.
JD443118 - Sequence 424142 from Patent EP1572962.
JD488227 - Sequence 469251 from Patent EP1572962.
JD228748 - Sequence 209772 from Patent EP1572962.
JD465882 - Sequence 446906 from Patent EP1572962.
JD158090 - Sequence 139114 from Patent EP1572962.
JD390195 - Sequence 371219 from Patent EP1572962.
JD420963 - Sequence 401987 from Patent EP1572962.
JD232891 - Sequence 213915 from Patent EP1572962.
JD484046 - Sequence 465070 from Patent EP1572962.
JD300540 - Sequence 281564 from Patent EP1572962.
JD255154 - Sequence 236178 from Patent EP1572962.
JD323232 - Sequence 304256 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZLF5, CAPON, CAPON_HUMAN, KIAA0464, NM_001126060, O43564, O75052, Q3T551, Q5VU95, uc009wut.1
UCSC ID: uc009wut.1
RefSeq Accession: NM_001126060
Protein: O75052 (aka CAPON_HUMAN)
CCDS: CCDS44267.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.