Human Gene NOX5 (ENST00000530406.7) from GENCODE V44
  Description: Homo sapiens NADPH oxidase 5 (NOX5), transcript variant 2, mRNA. (from RefSeq NM_001184779)
RefSeq Summary (NM_001184779): This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011].
Gencode Transcript: ENST00000530406.7
Gencode Gene: ENSG00000255346.11
Transcript (Including UTRs)
   Position: hg38 chr15:69,014,695-69,062,762 Size: 48,068 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr15:69,014,736-69,056,696 Size: 41,961 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:69,014,695-69,062,762)mRNA (may differ from genome)Protein (737 aa)
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ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NOX5_HUMAN
DESCRIPTION: RecName: Full=NADPH oxidase 5; EC=1.6.3.-;
FUNCTION: Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin.
COFACTOR: FAD.
COFACTOR: Magnesium.
ENZYME REGULATION: Activated by calcium which induces conformational changes and interaction between the N-terminal regulatory region and the C-terminal catalytic region. Inhibited by diphenylene iodonium.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.06 uM for calcium;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SUBCELLULAR LOCATION: Isoform v2: Endoplasmic reticulum.
SUBCELLULAR LOCATION: Isoform v5: Endoplasmic reticulum.
TISSUE SPECIFICITY: Mainly expressed in pachytene spermatocytes of testis and in lymphocyte-rich areas of spleen and lymph nodes. Isoform v1 is expressed in spleen. Isoform v2 is expressed in testis. Also detected in ovary, placenta, pancreas, cardiac fibroblasts. Expressed in B-cells and prostate malignant cells. Isoform v1 and isoform v3 are expressed in epithelial colorectal adenocarcinoma cells. Isoform v2 and isoform v4 are expressed in endothelial cells. Isoform v1, isoform v2, isoform v3 and isoform v4 are expressed in pulmonary artery smooth muscle cells. Isoform v2 and isoform v5 are expressed in microvascular endothelial cells (at protein level).
DEVELOPMENTAL STAGE: Expressed in fetal tissues.
INDUCTION: Down-regulated by TGFB1.
DOMAIN: Isoform v1 and isoform v2 of this protein have four functional EF-hand calcium-binding domains. Isoform v3 and isoform v4 have the third EF-hand domain interrupted by an insert.
SIMILARITY: Contains 4 EF-hand domains.
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SIMILARITY: Contains 1 ferric oxidoreductase domain.
SEQUENCE CAUTION: Sequence=AAG33638.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15319.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB84897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.41 RPKM in Spleen
Total median expression: 11.14 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 -8.7041-0.212 Picture PostScript Text
3' UTR -2167.676066-0.357 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
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR013112 - FAD-bd_8
IPR017927 - Fd_Rdtase_FAD-bd
IPR013130 - Fe3_Rdtase_TM_dom
IPR013121 - Fe_red_NAD-bd_6
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF13202 - EF hand
PF08022 - FAD-binding domain
PF01794 - Ferric reductase like transmembrane component
PF08030 - Ferric reductase NAD binding domain

ModBase Predicted Comparative 3D Structure on Q96PH1
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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
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
      
      
   Ensembl  
   Protein Sequence  
   Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0015252 hydrogen ion channel activity
GO:0016175 superoxide-generating NADPH oxidase activity
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0050660 flavin adenine dinucleotide binding
GO:0050661 NADP binding

Biological Process:
GO:0001525 angiogenesis
GO:0001935 endothelial cell proliferation
GO:0006811 ion transport
GO:0006915 apoptotic process
GO:0008283 cell proliferation
GO:0010155 regulation of proton transport
GO:0034599 cellular response to oxidative stress
GO:0042554 superoxide anion generation
GO:0043012 regulation of fusion of sperm to egg plasma membrane
GO:0050663 cytokine secretion
GO:0055114 oxidation-reduction process
GO:0061640 cytoskeleton-dependent cytokinesis
GO:1902600 hydrogen ion transmembrane transport
GO:2000379 positive regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF325189 - Homo sapiens NADPH oxidase 5 beta mRNA, complete cds.
AF325190 - Homo sapiens NADPH oxidase 5 delta mRNA, complete cds.
HW061179 - JP 2012529430-A/54: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482139 - Sequence 122 from Patent WO2011072091.
JB251987 - Sequence 54 from Patent EP2440214.
JE980431 - Sequence 122 from Patent EP2862929.
LP764886 - Sequence 54 from Patent EP3276004.
BC125097 - Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5, mRNA (cDNA clone MGC:149776 IMAGE:40118286), complete cds.
BC125098 - Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5, mRNA (cDNA clone MGC:149777 IMAGE:40118288), complete cds.
AK314689 - Homo sapiens cDNA, FLJ95541, highly similar to Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), mRNA.
AF353088 - Homo sapiens NADPH oxidase 5 alpha mRNA, complete cds.
AF353089 - Homo sapiens NADPH oxidase 5 gamma mRNA, complete cds.
AK074071 - Homo sapiens mRNA for FLJ00142 protein.
KJ903170 - Synthetic construct Homo sapiens clone ccsbBroadEn_12564 NOX5 gene, encodes complete protein.
AK074058 - Homo sapiens mRNA for FLJ00129 protein.
AK026011 - Homo sapiens cDNA: FLJ22358 fis, clone HRC06415.
AF317889 - Homo sapiens NOX5 mRNA, complete cds.
DQ413001 - Homo sapiens NOX5 variant lacking EF hands (NOX5) mRNA, partial cds, alternatively spliced.
AY166601 - Homo sapiens truncated NADPH oxidase 5 (NOX5) mRNA, partial cds; alternatively spliced.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PH1 (Reactome details) participates in the following event(s):

R-HSA-6807557 NOX4, NOX5 reduce O2 to O2.-
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: B2RBJ4, ENST00000530406.1, ENST00000530406.2, ENST00000530406.3, ENST00000530406.4, ENST00000530406.5, ENST00000530406.6, NM_001184779, NOX5_HUMAN, Q08AN2, Q08AN3, Q8TEQ1, Q8TER4, Q96PH1, Q96PH2, Q96PJ8, Q96PJ9, Q9H6E0, Q9HAM8, uc002arr.1, uc002arr.2, uc002arr.3, uc002arr.4
UCSC ID: ENST00000530406.7
RefSeq Accession: NM_001184779
Protein: Q96PH1 (aka NOX5_HUMAN)

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