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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
External Ids for NUBPL Gene
- HGNC: 20278
- Entrez Gene: 80224
- Ensembl: ENSG00000151413
- OMIM: 613621
- UniProtKB: Q8TB37
Previous HGNC Symbols for NUBPL Gene
- C14orf127
Previous GeneCards Identifiers for NUBPL Gene
- GC14P031101
- GC14P032032
- GC14P012147
- GC14P031959
Summaries 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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
- Monarch Initiative
- Search for NUBPL at DataMed
- Search for NUBPL at HumanCyc
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 for NUBPL Gene
Promoters and enhancers for NUBPL Gene
- 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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for NUBPL Gene
- chr14:31,489,956-31,861,224
- (GRCh38/hg38)
- Size:
- 371,269 bases
- Orientation:
- Plus strand
- chr14:31,959,162-32,330,430
- (GRCh37/hg19)
- 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:
-
- 14q12 by HGNC
- 14q12 by Entrez Gene
- 14q12 by Ensembl
NUBPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
- Miscellaneous:
-
- [Isoform 2]: May be due to exon skipping.
- 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};
Protein Expression for NUBPL Gene
Post-translational modifications for NUBPL Gene
Other Protein References for NUBPL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Creative Biolabs
- Mouse Anti-NUBPL Recombinant Antibody (5F8)
- Mouse Anti-NUBPL Recombinant Antibody (2G7)
- Mouse Anti-NUBPL Recombinant Antibody (7D6)
- Mouse Anti-NUBPL Recombinant Antibody (2C8)
- Mouse Anti-NUBPL Recombinant Antibody (1C5)
- Mouse Anti-NUBPL Recombinant Antibody (5C12)
- Mouse Anti-NUBPL Recombinant Antibody (3D11)
- Hi-Affi™ Recombinant Rabbit Anti-NUBPL Monoclonal Antibody (DS2511AB)
- Novus Biologicals Antibodies for NUBPL
- Invitrogen Antibodies for NUBPL (AFLGC-NUBPL)
-
Biorbyt antibodies for NUBPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for NUBPL
Protein Products
- Creative Biomart Recombinant Human NUBPL 293 Cell Lysate
-
OriGene Purified Proteins for NUBPL
- Search Origene for MassSpec and Protein Over-expression Lysates for NUBPL
- Origene Custom Protein Services for NUBPL
- antibodies-online: Show 3 available NUBPL Proteins ranked by validation data
- Compare Top NUBPL Proteins
-
Quality Products:
-
Abcam proteins for NUBPL
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
- Blocks:
-
- Mrp family
- InterPro:
- 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- Family:
-
- Belongs to the Mrp/NBP35 ATP-binding proteins family.
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.
Phenotypes From GWAS Catalog for NUBPL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005524 | ATP binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0051536 | iron-sulfur cluster binding | IEA | -- |
| GO:0051539 | 4 iron, 4 sulfur cluster binding | IDA,IBA | 19752196 |
Phenotypes for NUBPL Gene
- MGI mutant phenotypes for NUBPL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NUBPL:
Animal Models for NUBPL Gene
- MGI Knock Outs for NUBPL:
-
- Nubpl Nubpl<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUBPL - Select products 50% OFF >
- * NUBPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NUBPL CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NUBPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUBPL
- genomics-online: gRNA clones - Search for available NUBPL gRNA products
- Overview of 97 available NUBPL gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUBPL
miRNA for NUBPL Gene
- miRTarBase miRNAs that target NUBPL
-
- hsa-mir-24-3p (MIRT030602)
- hsa-mir-21-5p (MIRT030975)
- hsa-mir-4309 (MIRT641387)
- hsa-mir-3198 (MIRT641388)
- hsa-mir-4294 (MIRT641389)
- hsa-mir-1289 (MIRT641390)
- hsa-mir-8082 (MIRT641391)
- hsa-mir-4534 (MIRT641392)
- hsa-mir-1273f (MIRT641393)
- hsa-mir-4708-5p (MIRT641394)
- hsa-mir-4770 (MIRT641395)
- hsa-mir-6088 (MIRT641396)
- hsa-mir-143-3p (MIRT641397)
- hsa-mir-136-5p (MIRT641398)
- hsa-mir-106b-3p (MIRT641399)
- hsa-mir-6514-5p (MIRT641400)
- hsa-mir-5587-5p (MIRT675459)
- hsa-mir-640 (MIRT675460)
- hsa-mir-203b-3p (MIRT675461)
- hsa-mir-7158-3p (MIRT675462)
- hsa-mir-378a-5p (MIRT675463)
- hsa-mir-433-3p (MIRT675464)
- hsa-mir-197-3p (MIRT675465)
- hsa-mir-6801-5p (MIRT675466)
- hsa-mir-6131 (MIRT675467)
- hsa-mir-6821-3p (MIRT675468)
- hsa-mir-6790-3p (MIRT675469)
- hsa-mir-4680-5p (MIRT675470)
- hsa-mir-4635 (MIRT675471)
- hsa-mir-3663-5p (MIRT675472)
- hsa-mir-3653-5p (MIRT675473)
- hsa-mir-4716-5p (MIRT675474)
- hsa-mir-484 (MIRT675475)
- hsa-mir-3155b (MIRT675476)
- hsa-mir-3155a (MIRT675477)
- hsa-mir-4781-3p (MIRT675478)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUBPL
- Browse OriGene Inhibitory RNA Products For NUBPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUBPL
- genomics-online: shRNA clones - Search for available NUBPL shRNA products
- Overview of 97 available NUBPL gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NUBPL - Select products 50% OFF >
- * NUBPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NUBPL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NUBPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUBPL
- genomics-online: cdna clones - Search for available NUBPL CDNA products
- Overview of 97 available NUBPL gene related products
- orf clones - Search for available NUBPL ORF products
- Overview of 97 available NUBPL gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | 19752196 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for NUBPL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for NUBPL Gene
Interacting Proteins for NUBPL Gene
GPS-Prot Interaction Network for NUBPL
| 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 |
No data available for SIGNOR curated interactions for NUBPL Gene
Drugs & Compounds for NUBPL Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iloperidone | Approved | Pharma | Antagonist | Dopamine (D2) and serotonin (5HT2) receptor antagonist | 23 |
Drug Products
- Creative Biomart Recombinant Human NUBPL 293 Cell Lysate
Transcripts for NUBPL Gene
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 :
-
- ENST00000281081 3040 bps (ENST00000281081.12)
- ENST00000418681 1804 bps (ENST00000418681.6)
- ENST00000547839 2001 bps (ENST00000547839.5)
- ENST00000548937 578 bps (ENST00000548937.5)
- ENST00000549838 556 bps (ENST00000549838.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NUBPL - Select products 50% OFF >
- * NUBPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NUBPL CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NUBPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NUBPL
- genomics-online: gRNA clones - Search for available NUBPL gRNA products
- Overview of 97 available NUBPL gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for NUBPL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NUBPL
- Browse OriGene Inhibitory RNA Products For NUBPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUBPL
- genomics-online: shRNA clones - Search for available NUBPL shRNA products
- Overview of 97 available NUBPL gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NUBPL - Select products 50% OFF >
- * NUBPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NUBPL tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NUBPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NUBPL
- genomics-online: cdna clones - Search for available NUBPL CDNA products
- Overview of 97 available NUBPL gene related products
- orf clones - Search for available NUBPL ORF products
- Overview of 97 available NUBPL gene related products
Relevant External Links for NUBPL Gene
- GeneLoc Exon Structure for
- NUBPL
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUBPL
SOURCE GeneReport for Unigene cluster for NUBPL Gene:
Hs.288981mRNA 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).
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
Primer Products
-
OriGene qPCR primer pairs for NUBPL
-
OriGene qPCR primer pairs and template standards for NUBPL
- genomics-online: primer clones - Search for available NUBPL Primer products
- Overview of 97 available NUBPL gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for NUBPL Gene
Orthologs for NUBPL Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NUBPL 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NUBPL 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NUBPL 31 30 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NUBPL 31 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nubpl 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nubpl 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NUBPL 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NUBPL 31 30 |
|
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 31 30 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG3262 31 30 |
|
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 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.9359 30 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.4690 30 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.13204 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU11285 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.698 30 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.698 30 |
|
- Species where no ortholog for NUBPL was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NUBPL: view image
Paralogs for NUBPL Gene
Variants for NUBPL Gene
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 |
|---|---|---|---|---|---|
| 562204 | Uncertain Significance: Mitochondrial complex I deficiency | 31,599,346(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 635348 | Pathogenic: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 31,846,503(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 638497 | Uncertain Significance: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 31,565,022(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 638498 | Uncertain Significance: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 31,826,646(+) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 669525 | Benign: not provided | 31,846,783(+) | T/C | INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUBPL Gene
Disorders for NUBPL Gene
(7) MalaCards diseases for NUBPL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex i deficiency, nuclear type 21 |
|
|
| mitochondrial complex i deficiency, nuclear type 1 |
|
|
| mitochondrial oxidative phosphorylation disorder |
|
|
| glycogen storage disease xv |
|
|
| leigh syndrome |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for NUBPL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NUBPL Gene
Publications for NUBPL Gene
- 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 54
- 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 54
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
- Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 41 54
- Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia. (PMID: 18521091) Volpi S … Lavedan C (Molecular psychiatry 2009) 3 41 54
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Sources for NUBPL Gene
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