NUBPL Gene (Protein Coding)

Nucleotide Binding Protein Like

GC14P031489
GIFtS:
39
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 variant... See more...

Aliases for NUBPL Gene

Aliases for NUBPL Gene

  • Nucleotide Binding Protein Like 2 3 5
  • HuInd1 2 3 4
  • Iron-Sulfur Protein Required For NADH Dehydrogenase 2 3
  • Iron-Sulfur Protein NUBPL 3 4
  • IND1 Homolog 3 4
  • C14orf127 3 4
  • IND1 2 3
  • Chromosome 14 Open Reading Frame 127 2
  • Nucleotide Binding Protein-Like 2
  • Nucleotide-Binding Protein-Like 4
  • FLJ12660 2
  • MC1DN21 3
  • NUBPL 5

External Ids for NUBPL Gene

Previous HGNC Symbols for NUBPL Gene

  • C14orf127

Previous GeneCards Identifiers for NUBPL Gene

  • GC14P031101
  • GC14P032032
  • GC14P012147
  • GC14P031959

Summaries for NUBPL Gene

Entrez Gene Summary for NUBPL 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]

GeneCards Summary for NUBPL Gene

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.

UniProtKB/Swiss-Prot Summary for NUBPL Gene

  • Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.

Additional gene information for NUBPL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUBPL Gene

Genomics for NUBPL Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NUBPL Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J031560 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 255.2 +71.8 71845 2.8 CHD2 TBP ZBTB10 MXD4 CEBPA MNT DEK BRCA1 SMAD5 ZFP64 NUBPL ENSG00000257155 LOC105370437 piR-46662-169 SCFD1 RPL21P5 ENSG00000258196 ARHGAP5
GH14J031892 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 8.3 +404.0 404045 4.4 IKZF1 FOXA2 ZEB2 TAL1 FOSL1 PRDM10 ATF1 HDAC2 EHMT2 JUND NUBPL ENSG00000203546 HSALNG0100417 ENSG00000257472 ARHGAP5
GH14J031901 Enhancer 1 Ensembl ENCODE 6.1 +412.5 412542 1.8 PLRG1 HOMEZ CEBPB NFATC3 FOXA2 ZEB2 TEAD3 JUND FOSL1 PRDM10 NUBPL HSALNG0100417 ENSG00000257472 ARHGAP5
GH14J031828 Enhancer 0.7 Ensembl ENCODE 8.2 +339.4 339355 1.9 JUND ATF2 RFX1 JUN CEBPB ATF7 ATF3 ZNF660 BMI1 NUBPL ENSG00000203546 piR-57460-170 HSALNG0100416 piR-49869 ARHGAP5
GH14J031843 Enhancer 0.6 Ensembl 10 +353.6 353645 0.8 CEBPB EP300 NFE2 NFE2L2 MAFG L3MBTL2 IKZF1 ATM HLF ZNF7 NUBPL piR-49869 piR-57460-170 HSALNG0100416 ARHGAP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUBPL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUBPL

Top Transcription factor binding sites by QIAGEN in the NUBPL gene promoter:
  • COMP1
  • E2F
  • E2F-1
  • HNF-3beta
  • MEF-2
  • MEF-2A
  • Sox9
  • SRF
  • SRF (504 AA)

Genomic Locations for NUBPL Gene

Latest Assembly
chr14:31,489,956-31,861,293
(GRCh38/hg38)
Size:
371,338 bases
Orientation:
Plus strand

Previous Assembly
chr14:32,030,610-32,330,430
(GRCh37/hg19 by Entrez Gene)
Size:
299,821 bases
Orientation:
Plus strand

chr14:31,959,162-32,330,430
(GRCh37/hg19 by Ensembl)
Size:
371,269 bases
Orientation:
Plus strand

Genomic View for NUBPL Gene

Genes around NUBPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUBPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUBPL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NUBPL Gene

Proteins for NUBPL Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NUBPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB37-NUBPL_HUMAN
    Recommended name:
    Iron-sulfur protein NUBPL
    Protein Accession:
    Q8TB37
    Secondary Accessions:
    • B4DHZ1
    • Q86TZ4
    • Q9H9M2

    Protein attributes for NUBPL Gene

    Size:
    319 amino acids
    Molecular mass:
    34083 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24919.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14203.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD62349.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be due to exon skipping.

    Alternative splice isoforms for NUBPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUBPL Gene

Protein Expression for NUBPL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NUBPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NUBPL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUBPL Gene

Domains & Families for NUBPL Gene

Gene Families for NUBPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NUBPL Gene

InterPro:
Blocks:
  • Mrp family
ProtoNet:

Suggested Antigen Peptide Sequences for NUBPL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59772, highly similar to Nucleotide-binding protein-like (B4DWB0_HUMAN)
  • huInd1 (NUBPL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TB37

UniProtKB/Swiss-Prot:

NUBPL_HUMAN :
  • Belongs to the Mrp/NBP35 ATP-binding proteins family.
Family:
  • Belongs to the Mrp/NBP35 ATP-binding proteins family.
genes like me logo Genes that share domains with NUBPL: view

Function for NUBPL Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for NUBPL Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.

Phenotypes From GWAS Catalog for NUBPL Gene

Gene Ontology (GO) - Molecular Function for NUBPL Gene

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 --
genes like me logo Genes that share ontologies with NUBPL: view
genes like me logo Genes that share phenotypes with NUBPL: view

Human Phenotype Ontology for NUBPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUBPL Gene

MGI Knock Outs for NUBPL:
  • Nubpl Nubpl<tm1b(KOMP)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUBPL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUBPL Gene

Localization for NUBPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUBPL Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUBPL gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19752196
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with NUBPL: view

Pathways & Interactions for NUBPL Gene

genes like me logo Genes that share pathways with NUBPL: view

Gene Ontology (GO) - Biological Process for NUBPL Gene

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
genes like me logo Genes that share ontologies with NUBPL: view

No data available for SIGNOR curated interactions for NUBPL Gene

Drugs & Compounds for NUBPL Gene

Products:

  1. Drug products for research

(1) Drugs for NUBPL Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iloperidone Approved Pharma Dopamine (D2) and serotonin (5HT2) receptor antagonist 25
genes like me logo Genes that share compounds with NUBPL: view

Transcripts for NUBPL Gene

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mRNA/cDNA for NUBPL Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUBPL

Alternative Splicing Database (ASD) splice patterns (SP) for NUBPL Gene

No ASD Table

Relevant External Links for NUBPL Gene

GeneLoc Exon Structure for
NUBPL

Expression for NUBPL Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUBPL Gene

mRNA expression in normal human tissues for NUBPL Gene
mRNA expression by BioGPS for NUBPL GenemRNA expression by GTEx for NUBPL Gene

Protein differential expression in normal tissues from HIPED for NUBPL Gene

This gene is overexpressed in Heart (14.8) and Salivary gland (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUBPL Gene



Protein tissue co-expression partners for NUBPL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUBPL

SOURCE GeneReport for Unigene cluster for NUBPL Gene:

Hs.288981

mRNA Expression by UniProt/SwissProt for NUBPL Gene:

Q8TB37-NUBPL_HUMAN
Tissue specificity: Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level).

Evidence on tissue expression from TISSUES for NUBPL Gene

  • Muscle(2.2)
  • Nervous system(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NUBPL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NUBPL: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NUBPL Gene

Orthologs for NUBPL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUBPL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NUBPL 30 31
  • 99.48 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NUBPL 30 31
  • 90.64 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NUBPL 30 31
  • 90.07 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NUBPL 31
  • 87 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Nubpl 30 17 31
  • 86.73 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nubpl 30
  • 86.42 (n)
Oppossum
(Monodelphis domestica)
 Mammalia NUBPL 31
  • 60 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NUBPL 30 31
  • 73.78 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NUBPL 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nubpl 30
  • 66.9 (n)
Str.16298 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14274 30
Zebrafish
(Danio rerio)
 Actinopterygii nubpl 30 31
  • 69.88 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3262 30 31
  • 52.72 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008828 30
  • 51.9 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NBP35 31
  • 29 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons INDL 30
  • 59.1 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.12146 30
Rice
(Oryza sativa)
 Liliopsida Os03g0627300 30
  • 62.93 (n)
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
  • 50.39 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.698 30
Species where no ortholog for NUBPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Worm (Caenorhabditis elegans)

Evolution for NUBPL Gene

ENSEMBL:
Gene Tree for NUBPL (if available)
TreeFam:
Gene Tree for NUBPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUBPL: view image

Paralogs for NUBPL Gene

Paralogs for NUBPL Gene

(2) SIMAP similar genes for NUBPL Gene using alignment to 7 proteins:

  • NUBPL_HUMAN
  • B4DWB0_HUMAN
  • F8VP02_HUMAN
  • F8VZR8_HUMAN
  • F8W061_HUMAN
  • F8W0A2_HUMAN
  • H0YHR7_HUMAN
genes like me logo Genes that share paralogs with NUBPL: view

Variants for NUBPL Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUBPL Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUBPL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NUBPL Gene

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

Variation tolerance for NUBPL Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUBPL Gene

Human Gene Mutation Database (HGMD)
NUBPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUBPL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUBPL Gene

Disorders for NUBPL Gene

MalaCards: The human disease database

(14) MalaCards diseases for NUBPL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NUBPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUBPL_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) [MIM:618242]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:20818383, ECO:0000269 PubMed:23553477}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NUBPL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NUBPL: view

No data available for Genatlas for NUBPL Gene

Publications for NUBPL Gene

  1. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. (PMID: 23553477) Kevelam SH … van der Knaap MS (Neurology 2013) 3 4 74
  2. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. (PMID: 20818383) Calvo SE … Mootha VK (Nature genetics 2010) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. (PMID: 19752196) Sheftel AD … Lill R (Molecular and cellular biology 2009) 3 4
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 41

ExternalLinks

View latest publications for NUBPL gene in Mastermind

Products for NUBPL Gene

Sources for NUBPL Gene