Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
NUBPL (Nucleotide Binding Protein Like) is a Protein Coding gene. Diseases associated with NUBPL include Mitochondrial Complex I Deficiency, Nuclear Type 21 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include 4 iron, 4 sulfur cluster binding. An important paralog of this gene is NUBP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0005524 | ATP binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051536 | iron-sulfur cluster binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | 19752196 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016226 | iron-sulfur cluster assembly | IBA | 21873635 |
GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
GO:0070584 | mitochondrion morphogenesis | IMP | 19752196 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iloperidone | Approved | Pharma | Dopamine (D2) and serotonin (5HT2) receptor antagonist | 25 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUBPL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUBPL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUBPL 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NUBPL 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nubpl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nubpl 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NUBPL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NUBPL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUBPL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nubpl 30 |
|
||
Str.16298 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14274 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nubpl 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3262 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008828 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NBP35 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | INDL 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.12146 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0627300 30 |
|
||
Os.27341 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.4690 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.9359 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.13204 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11285 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.698 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
214876 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 31,673,385(+) |
G/A NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
881212 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 31,561,443(+) |
G/C NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
881213 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 31,561,464(+) |
C/T NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
881214 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 31,561,510(+) |
C/T NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
881257 | Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 | 31,859,252(+) |
T/C NM_025152.3(NUBPL):c.*72T>C |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv130n21 | CNV | loss | 19592680 |
dgv3607n54 | CNV | gain | 21841781 |
esv2662062 | CNV | deletion | 23128226 |
esv2663509 | CNV | deletion | 23128226 |
esv2668030 | CNV | deletion | 23128226 |
esv2672738 | CNV | deletion | 23128226 |
esv2678410 | CNV | deletion | 23128226 |
esv3306848 | CNV | mobile element insertion | 20981092 |
esv3448539 | CNV | insertion | 20981092 |
esv3581099 | CNV | loss | 25503493 |
esv3581100 | CNV | loss | 25503493 |
esv3581101 | CNV | loss | 25503493 |
esv3633971 | CNV | loss | 21293372 |
esv3633973 | CNV | loss | 21293372 |
esv3633974 | CNV | loss | 21293372 |
esv3633975 | CNV | loss | 21293372 |
esv3633977 | CNV | loss | 21293372 |
esv3892496 | CNV | loss | 25118596 |
esv8132 | CNV | gain | 19470904 |
nsv1046526 | CNV | gain | 25217958 |
nsv1150909 | CNV | duplication | 26484159 |
nsv456199 | CNV | loss | 19166990 |
nsv520783 | CNV | loss | 19592680 |
nsv521541 | CNV | loss | 19592680 |
nsv526200 | CNV | gain | 19592680 |
nsv564182 | CNV | gain | 21841781 |
nsv564183 | CNV | loss | 21841781 |
nsv85392 | CNV | deletion | 16902084 |
nsv974321 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 21 |
|
|
mitochondrial complex i deficiency, nuclear type 1 |
|
|
mitochondrial oxidative phosphorylation disorder |
|
|
combined dystonia |
|
|
glycogen storage disease xv |
|
|