NUBPL

Protein identityUniProt · HPA

UniProt accession

Q8TB37

Gene

NUBPL

Ensembl

ENSG00000151413

Chromosome

14

Canonical length

319 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

319 residues, UniProt reviewed canonical sequence.

>Q8TB37|NUBPL
     1  MGIWQRLLLF GGVSLRAGGG ATAPLGGSRA MVCGRQLSGA GSETLKQRRT QIMSRGLPKQ
    61  KPIEGVKQVI VVASGKGGVG KSTTAVNLAL ALAANDSSKA IGLLDVDVYG PSVPKMMNLK
   121  GNPELSQSNL MRPLLNYGIA CMSMGFLVEE SEPVVWRGLM VMSAIEKLLR QVDWGQLDYL
   181  VVDMPPGTGD VQLSVSQNIP ITGAVIVSTP QDIALMDAHK GAEMFRRVHV PVLGLVQNMS
   241  VFQCPKCKHK THIFGADGAR KLAQTLGLEV LGDIPLHLNI REASDTGQPI VFSQPESDEA
   301  KAYLRIAVEV VRRLPSPSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUBPL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NUBPL.

Disease | AllUniProt

Conditions NUBPL is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) MIM:618242

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 300 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 21
• Inborn genetic diseases
• Mitochondrial complex I deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

0.29

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• iron-sulfur cluster assembly
• mitochondrial respiratory chain complex I assembly
• mitochondrion organization

Molecular functions

• 4 iron, 4 sulfur cluster binding
• ATP binding
• ATP-dependent FeS chaperone activity
• metal ion binding

Cellular components

• mitochondrial matrix
• mitochondrion
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Iron-sulfur cluster carrier protein-like, conserved site
• Mrp/NBP35 ATP-binding protein
• P-loop containing nucleoside triphosphate hydrolase
• Flagellum site-determining protein YlxH/ Fe-S cluster assembling factor NBP35
• NUBPL iron-transfer P-loop NTPase
• Iron-sulfur protein NUBPL-like

KeywordsUniProt

• 4Fe-4S
• ATP-binding
• Iron
• Iron-sulfur
• Metal-binding
• Mitochondrion
• Nucleotide-binding
• Primary mitochondrial disease
• Transit peptide