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Aliases for NUBPL Gene

Aliases for NUBPL Gene

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

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 and leber hereditary optic neuropathy. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding. An important paralog of this gene is NUBP1.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUBPL Gene

Genomics for NUBPL Gene

Regulatory Elements for NUBPL Gene

Genomic Location for NUBPL Gene

Chromosome:
14
Start:
31,489,956 bp from pter
End:
31,861,224 bp from pter
Size:
371,269 bases
Orientation:
Plus strand

Genomic View for NUBPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NUBPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUBPL Gene

Proteins for NUBPL Gene

  • 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; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24919.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14203.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD62349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NUBPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUBPL Gene

Proteomics data for NUBPL Gene at MOPED

Post-translational modifications for NUBPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NUBPL Gene

Domains & Families for NUBPL Gene

Protein Domains for NUBPL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NUBPL Gene

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

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.

Gene Ontology (GO) - Molecular Function for NUBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IDA 19752196
genes like me logo Genes that share ontologies with NUBPL: view

Phenotypes for NUBPL Gene

GenomeRNAi human phenotypes for NUBPL:
genes like me logo Genes that share phenotypes with NUBPL: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NUBPL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for NUBPL Gene COMPARTMENTS Subcellular localization image for NUBPL gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for NUBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19752196
genes like me logo Genes that share ontologies with NUBPL: view

Pathways & Interactions for NUBPL Gene

SuperPathways for NUBPL Gene

No Data Available

Interacting Proteins for NUBPL Gene

Gene Ontology (GO) - Biological Process for NUBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 19752196
GO:0070584 mitochondrion morphogenesis IMP 19752196
genes like me logo Genes that share ontologies with NUBPL: view

No data available for Pathways by source and SIGNOR curated interactions for NUBPL Gene

Drugs & Compounds for NUBPL Gene

(1) Drugs for NUBPL Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iloperidone Approved Pharma Antagonist Dopamine (D2) and serotonin (5HT2) receptor antagonist 0
genes like me logo Genes that share compounds with NUBPL: view

Transcripts for NUBPL Gene

Unigene Clusters for NUBPL Gene

Nucleotide binding protein-like:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NUBPL

Flow Cytometry Products

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

No ASD Table

Relevant External Links for NUBPL Gene

GeneLoc Exon Structure for
NUBPL
ECgene alternative splicing isoforms for
NUBPL

Expression for NUBPL Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NUBPL Gene



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).
genes like me logo Genes that share expression patterns with NUBPL: view

Protein tissue co-expression partners for NUBPL Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia NUBPL 35
  • 90.07 (n)
  • 90.6 (a)
NUBPL 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUBPL 35
  • 90.64 (n)
  • 89.91 (a)
NUBPL 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nubpl 35
  • 86.73 (n)
  • 88.09 (a)
Nubpl 16
Nubpl 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NUBPL 35
  • 99.48 (n)
  • 99.37 (a)
NUBPL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nubpl 35
  • 86.42 (n)
  • 88.09 (a)
oppossum
(Monodelphis domestica)
Mammalia NUBPL 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUBPL 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUBPL 35
  • 73.78 (n)
  • 78.67 (a)
NUBPL 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUBPL 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nubpl 35
  • 66.9 (n)
  • 73.79 (a)
Str.16298 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14274 35
zebrafish
(Danio rerio)
Actinopterygii nubpl 35
  • 69.88 (n)
  • 77.86 (a)
nubpl 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008828 35
  • 51.9 (n)
  • 49.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3262 35
  • 52.72 (n)
  • 45.25 (a)
CG3262 36
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NBP35 36
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons INDL 35
  • 59.1 (n)
  • 60.16 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12146 35
barley
(Hordeum vulgare)
Liliopsida Hv.4690 35
rice
(Oryza sativa)
Liliopsida Os.27341 35
Os03g0627300 35
  • 62.93 (n)
  • 62.24 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9359 35
corn
(Zea mays)
Liliopsida Zm.13204 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.698 35
bread mold
(Neurospora crassa)
Ascomycetes NCU11285 35
  • 50.39 (n)
  • 48.83 (a)
Species with no ortholog for NUBPL:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for NUBPL Gene

Paralogs for NUBPL Gene

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

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

Variants for NUBPL Gene

Sequence variations from dbSNP and Humsavar for NUBPL Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs3993 -- 31,852,796(+) AGAAT(C/T)CTCCA intron-variant
rs10348 -- 31,861,054(-) tgata(C/T)agaac utr-variant-3-prime, nc-transcript-variant
rs433939 -- 31,826,967(+) ATACT(C/G/T)CCAGC intron-variant
rs716887 -- 31,588,712(+) GAGTT(C/G/T)GAGAC intron-variant
rs716888 -- 31,588,608(+) TTTTT(A/T)TAAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv901591 CNV Gain 21882294
nsv901592 CNV Loss 21882294
esv2663509 CNV Deletion 23128226
nsv456199 CNV Loss 19166990
esv2668030 CNV Deletion 23128226
nsv521541 CNV Loss 19592680
esv2678410 CNV Deletion 23128226
nsv520783 CNV Loss 19592680
dgv130n21 CNV Loss 19592680
esv8132 CNV Gain 19470904
esv2672738 CNV Deletion 23128226
nsv85392 CNV Loss 16902084
nsv901593 CNV Gain 21882294
esv2662062 CNV Deletion 23128226
esv271124 CNV Insertion 20981092
nsv526200 CNV Gain 19592680

Variation tolerance for NUBPL Gene

Residual Variation Intolerance Score: 90.26% 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)

Relevant External Links for NUBPL Gene

HapMap Linkage Disequilibrium report
NUBPL
Human Gene Mutation Database (HGMD)
NUBPL

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

Disorders for NUBPL Gene

MalaCards: The human disease database

(3) MalaCards diseases for NUBPL Gene - From: OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leber hereditary optic neuropathy
  • optic atrophy, leber's
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association
Search NUBPL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUBPL_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:20818383, ECO:0000269 PubMed:23553477}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NUBPL

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

No data available for Genatlas for NUBPL Gene

Publications for NUBPL Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 67
  3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 67
  4. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. (PMID: 23553477) Kevelam S.H. … van der Knaap M.S. (Neurology 2013) 67
  5. Next generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. (PMID: 22072591) Tucker E.J. … Thorburn D.R. (Hum. Mutat. 2012) 67

Products for NUBPL Gene

Sources for NUBPL Gene

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