Human Gene NDUFAB1 (ENST00000007516.8_7) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase subunit AB1 (from RefSeq NM_005003.3)
Gencode Transcript: ENST00000007516.8_7
Gencode Gene: ENSG00000004779.10_11
Transcript (Including UTRs)
   Position: hg19 chr16:23,592,335-23,607,637 Size: 15,303 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr16:23,593,605-23,607,611 Size: 14,007 Coding Exon Count: 4 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:23,592,335-23,607,637)mRNA (may differ from genome)Protein (156 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACPM_HUMAN
DESCRIPTION: RecName: Full=Acyl carrier protein, mitochondrial; Short=ACP; AltName: Full=CI-SDAP; AltName: Full=NADH-ubiquinone oxidoreductase 9.6 kDa subunit; Flags: Precursor;
FUNCTION: Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (By similarity).
SUBUNIT: Mammalian complex I is composed of 45 different subunits.
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Contains 1 acyl carrier domain.
SEQUENCE CAUTION: Sequence=AAC05814.1; 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: NDUFAB1
Diseases sorted by gene-association score: cerebral palsy, ataxic, autosomal recessive* (50), prostate adenoid cystic carcinoma (3)
* = 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: 105.47 RPKM in Heart - Left Ventricle
Total median expression: 1483.68 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 -2.7026-0.104 Picture PostScript Text
3' UTR -36.00168-0.214 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
IPR003231 - Acyl_carrier
IPR009081 - Acyl_carrier_prot-like
IPR006162 - PPantetheine_attach_site

Pfam Domains:
PF00550 - Phosphopantetheine attachment site

SCOP Domains:
47336 - ACP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DNW - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O14561
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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:0000035 acyl binding
GO:0000036 ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process
GO:0005504 fatty acid binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0031177 phosphopantetheine binding

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0009245 lipid A biosynthetic process
GO:0009249 protein lipoylation
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0031966 mitochondrial membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  BC058920 - Homo sapiens NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa, mRNA (cDNA clone MGC:65095 IMAGE:6167387), complete cds.
AF087660 - Homo sapiens NADH:ubiquinone oxidoreductase SDAP subunit mRNA, complete cds, nuclear gene encoding mitochondrial protein.
JD300886 - Sequence 281910 from Patent EP1572962.
AK311877 - Homo sapiens cDNA, FLJ92143, Homo sapiens NADH dehydrogenase (ubiquinone) 1, alpha/betasubcomplex, 1, 8kDa (NDUFAB1), mRNA.
KJ897229 - Synthetic construct Homo sapiens clone ccsbBroadEn_06623 NDUFAB1 gene, encodes complete protein.
EF036490 - Homo sapiens NADH:ubiquinone oxidoreductase SDAP subunit mRNA, partial cds.
EF036489 - Homo sapiens NADH:ubiquinone oxidoreductase SDAP subunit mRNA, partial cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)
PWY0-501 - lipoate biosynthesis and incorporation
PWY66-429 - fatty acid biosynthesis initiation (mitochondria)
PWY66-430 - myristate biosynthesis (mitochondria)

Reactome (by CSHL, EBI, and GO)

Protein O14561 (Reactome details) participates in the following event(s):

R-HSA-6793590 LIPT2 transfers octanoyl group to GCSH
R-HSA-8933547 MCAT transfers Mal from Mal-CoA to NDUFAB1
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-389661 Glyoxylate metabolism and glycine degradation
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-6799198 Complex I biogenesis
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-8978868 Fatty acid metabolism
R-HSA-611105 Respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-556833 Metabolism of lipids
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

-  Other Names for This Gene
  Alternate Gene Symbols: ACPM_HUMAN, B2R4M1, ENST00000007516.1, ENST00000007516.2, ENST00000007516.3, ENST00000007516.4, ENST00000007516.5, ENST00000007516.6, ENST00000007516.7, NDUFAB1 , NM_005003, O14561, Q9UNV1, uc317bwl.1, uc317bwl.2
UCSC ID: ENST00000007516.8_7
RefSeq Accession: NM_005003.3
Protein: O14561 (aka ACPM_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.