Human Gene NOS1AP (ENST00000361897.10_11) from GENCODE V47lift37
  Description: nitric oxide synthase 1 adaptor protein, transcript variant 1 (from RefSeq NM_014697.3)
Gencode Transcript: ENST00000361897.10_11
Gencode Gene: ENSG00000198929.13_14
Transcript (Including UTRs)
   Position: hg19 chr1:162,039,481-162,340,265 Size: 300,785 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:162,039,968-162,337,257 Size: 297,290 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:162,039,481-162,340,265)mRNA (may differ from genome)Protein (506 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -206.00487-0.423 Picture PostScript Text
3' UTR -951.203008-0.316 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)

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on O75052
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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.
AB384484 - Synthetic construct DNA, clone: pF1KA0464, Homo sapiens NOS1AP gene for carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein, complete cds, without stop codon, in Flexi system.
AB587549 - Synthetic construct DNA, clone: pF1KE1067, Homo sapiens NOS1AP gene for nitric oxide synthase 1 (neuronal) adaptor protein, without stop codon, in Flexi system.
JD056188 - Sequence 37212 from Patent EP1572962.
JD109004 - Sequence 90028 from Patent EP1572962.
JD461134 - Sequence 442158 from Patent EP1572962.
JD104641 - Sequence 85665 from Patent EP1572962.
JD218046 - Sequence 199070 from Patent EP1572962.
JD390140 - Sequence 371164 from Patent EP1572962.
JD394058 - Sequence 375082 from Patent EP1572962.
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.
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, ENST00000361897.1, ENST00000361897.2, ENST00000361897.3, ENST00000361897.4, ENST00000361897.5, ENST00000361897.6, ENST00000361897.7, ENST00000361897.8, ENST00000361897.9, KIAA0464, NM_014697, NOS1AP , O43564, O75052, Q3T551, Q5VU95, uc318ckc.1, uc318ckc.2
UCSC ID: ENST00000361897.10_11
RefSeq Accession: NM_014697.3
Protein: O75052 (aka CAPON_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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