Human Gene NDUFB11 (ENST00000377811.4) from GENCODE V44
  Description: Homo sapiens NADH:ubiquinone oxidoreductase subunit B11 (NDUFB11), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001135998)
RefSeq Summary (NM_001135998): The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016].
Gencode Transcript: ENST00000377811.4
Gencode Gene: ENSG00000147123.12
Transcript (Including UTRs)
   Position: hg38 chrX:47,142,216-47,144,702 Size: 2,487 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chrX:47,142,317-47,144,679 Size: 2,363 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:47,142,216-47,144,702)mRNA (may differ from genome)Protein (153 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUBB_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial; AltName: Full=Complex I-ESSS; Short=CI-ESSS; AltName: Full=NADH-ubiquinone oxidoreductase ESSS subunit; AltName: Full=Neuronal protein 17.3; Short=Np17.3; Short=p17.3; Flags: Precursor;
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
SUBUNIT: Complex I is composed of 45 different subunits.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the complex I NDUFB11 subunit family.

-  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: NDUFB11
Diseases sorted by gene-association score: linear skin defects with multiple congenital anomalies 3* (930), mitochondrial complex i deficiency* (431), linear skin defects with multiple congenital anomalies 1* (247), endometrial stromal nodule (16), corpus callosum agenesis (7), myxoid leiomyosarcoma (7), endometrial stromal sarcoma (2), female reproductive organ cancer (1), leigh syndrome (1)
* = 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: 173.19 RPKM in Muscle - Skeletal
Total median expression: 4457.34 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 -1.8023-0.078 Picture PostScript Text
3' UTR -22.30101-0.221 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
IPR019329 - NADH_UbQ_OxRdtase_ESSS_su

Pfam Domains:
PF10183 - ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

ModBase Predicted Comparative 3D Structure on Q9NX14
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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 BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

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

Biological Process:
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  BC107805 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa, mRNA (cDNA clone MGC:111182 IMAGE:6496406), complete cds.
AK000501 - Homo sapiens cDNA FLJ20494 fis, clone KAT08547.
AX810702 - Sequence 26 from Patent EP1333092.
AF044213 - Homo sapiens neuronal protein 17.3 mRNA, complete cds.
AF134476 - Homo sapiens neuronal protein mRNA, complete cds.
BC010665 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa, mRNA (cDNA clone MGC:8855 IMAGE:3870660), complete cds.
LF211432 - JP 2014500723-A/18935: Polycomb-Associated Non-Coding RNAs.
MA447009 - JP 2018138019-A/18935: Polycomb-Associated Non-Coding RNAs.
AY359056 - Homo sapiens clone DNA59827 AAGL111 (UNQ111) mRNA, complete cds.
LF206956 - JP 2014500723-A/14459: Polycomb-Associated Non-Coding RNAs.
MA442533 - JP 2018138019-A/14459: Polycomb-Associated Non-Coding RNAs.
AF251063 - Homo sapiens neuronal protein mRNA, complete cds.
JD270165 - Sequence 251189 from Patent EP1572962.
JD129359 - Sequence 110383 from Patent EP1572962.
KJ894038 - Synthetic construct Homo sapiens clone ccsbBroadEn_03432 NDUFB11 gene, encodes complete protein.
CR457239 - Homo sapiens full open reading frame cDNA clone RZPDo834C069D for gene P17.3, neuronal protein 17.3; complete cds, incl. stopcodon.
LF379455 - JP 2014500723-A/186958: Polycomb-Associated Non-Coding RNAs.
MA615032 - JP 2018138019-A/186958: Polycomb-Associated Non-Coding RNAs.
LF359607 - JP 2014500723-A/167110: Polycomb-Associated Non-Coding RNAs.
MA595184 - JP 2018138019-A/167110: Polycomb-Associated Non-Coding RNAs.
JD134694 - Sequence 115718 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)

Reactome (by CSHL, EBI, and GO)

Protein Q9NX14 (Reactome details) participates in the following event(s):

R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2
R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex
R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-163217 Complex I oxidises NADH to NAD+, reduces CoQ to QH2
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000377811.1, ENST00000377811.2, ENST00000377811.3, NDUBB_HUMAN, NM_001135998, Q5JRR3, Q5JRR4, Q6IAB6, Q8WZ96, Q9BXX9, Q9NX14, uc004dhd.1, uc004dhd.2, uc004dhd.3, uc004dhd.4, uc004dhd.5, UNQ111/PRO1064
UCSC ID: ENST00000377811.4
RefSeq Accession: NM_001135998
Protein: Q9NX14 (aka NDUBB_HUMAN)
CCDS: CCDS48100.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFB11:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
microph-lsd (Microphthalmia with Linear Skin Defects Syndrome)

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