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    NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 80224, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NUBPLprovided by HGNC
    Official Full Name
    NUBP iron-sulfur cluster assembly factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:20278
    See related
    Ensembl:ENSG00000151413 MIM:613621; AllianceGenome:HGNC:20278
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IND1; huInd1; MC1DN21; C14orf127
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 1.5), heart (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUBPL in Genome Data Viewer
    Location:
    14q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (31561404..31861224)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (25758636..26058537)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (32030610..32330430)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370438 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:31961704-31962903 Neighboring gene G protein-coupled receptor 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:32030779-32031334 Neighboring gene NUBPL divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:32090343-32090842 Neighboring gene MPRA-validated peak2131 silencer Neighboring gene RNA, U6 small nuclear 602, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:32152531-32152718 Neighboring gene RNA, U6 small nuclear 455, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr14:32179127-32179660 Neighboring gene MPRA-validated peak2132 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:32370891-32372090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:32403751-32404407 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:32413341-32414540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:32419941-32420560 Neighboring gene long intergenic non-protein coding RNA 2313 Neighboring gene ZFAND2A pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expanding the Spectrum of NUBPL-Related Leukodystrophy. Tonduti D, et al. Neuropediatrics, 2023 Jun. PMID 36868263
    2. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Kimonis V, et al. J Med Genet, 2021 May. PMID 32518176
    3. Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. Protasoni M, et al. Mol Genet Metab, 2020 Jan. PMID 31787496
    4. Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. Balint B, et al. Eur J Neurol, 2019 Sep. PMID 30897263, Free PMC Article
    5. Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. Maclean AE, et al. Hum Mol Genet, 2018 Nov 1. PMID 29982452, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the Spectrum of NUBPL-Related Leukodystrophy.
      Title: Expanding the Spectrum of NUBPL-Related Leukodystrophy.
    2. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
      Title: NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
    3. Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.
      Title: Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.
    4. Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
      Title: Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
    5. 5 missense variants in NUBPL gene were compared. The resulting NUBPL/Ind1 protein variants were tested in Yarrowia lipolytica for protein stability and complex I levels, oxidoreductase activity and assembly intermediates. 4 missense mutations are pathogenic, and mutants are sensitive to low temperature.
      Title: Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
    6. huInd1 binds to the untranslated region of the TEM-1 mRNA at 3' site and thereby reducing the possibility of its endonucleolytic cleavage, resulting in over-expression of TEM-1.
      Title: Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein.
    7. Inhibition of ERK suppressed the NUBPL-induced changes in EMT and cell motility.
      Title: NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition.
    8. Our data show that NUBPL mutations are associated with a unique, consistent, and recognizable MRI pattern.
      Title: NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
    9. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genome-wide association study of antipsychotic-induced QTc interval prolongation.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 21
    MedGen: C4748792 OMIM: 618242 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12660

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 4 iron, 4 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent FeS chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in iron-sulfur cluster assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    iron-sulfur cluster transfer protein NUBPL; iron-sulfur protein NUBPL
    Names
    IND1 homolog
    iron-sulfur protein required for NADH dehydrogenase
    nucleotide binding protein like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028349.1 RefSeqGene

      Range
      5020..304840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201573.2 → NP_001188502.1  iron-sulfur cluster transfer protein NUBPL isoform 2

      See identical proteins and their annotated locations for NP_001188502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two exons from the 5' end and has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK301447, AK316445, AL355112, AL390798, BM978769
      UniProtKB/TrEMBL
      B4DWB0
      Conserved Domains (1) summary
      pfam10609
      Location:1 → 215
      ParA; NUBPL iron-transfer P-loop NTPase

    2. NM_001201574.2 → NP_001188503.1  iron-sulfur cluster transfer protein NUBPL isoform 3

      See identical proteins and their annotated locations for NP_001188503.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons from the 5' end and has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a much shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK093789, AL355112, AL390798, BM978769
      UniProtKB/TrEMBL
      B3KSK2, C9J751
      Conserved Domains (1) summary
      cl38936
      Location:1 → 128
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_025152.3 → NP_079428.2  iron-sulfur cluster transfer protein NUBPL isoform 1 precursor

      See identical proteins and their annotated locations for NP_079428.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK022722, BC024919, BM978769, BP274976, CT002019
      Consensus CDS
      CCDS41940.1
      UniProtKB/Swiss-Prot
      B4DHZ1, Q86TZ4, Q8TB37, Q9H9M2
      UniProtKB/TrEMBL
      X5D2R5, X5DR74
      Related
      ENSP00000281081.7, ENST00000281081.12
      Conserved Domains (2) summary
      TIGR01969
      Location:69 → 311
      minD_arch; cell division ATPase MinD, archaeal
      pfam10609
      Location:65 → 311
      ParA; NUBPL iron-transfer P-loop NTPase

    RNA

    1. NR_120408.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC024919, BM978769, BQ649741, BX248028

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      31561404..31861224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431788.1 → XP_047287744.1  iron-sulfur protein NUBPL isoform X8

      Related
      ENSP00000449918.1, ENST00000547839.5

    2. XM_017021665.3 → XP_016877154.1  iron-sulfur protein NUBPL isoform X4

      Conserved Domains (1) summary
      cl21455
      Location:65 → 171
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_017021666.2 → XP_016877155.1  iron-sulfur protein NUBPL isoform X6

    4. XM_011537183.3 → XP_011535485.1  iron-sulfur protein NUBPL isoform X5

      Conserved Domains (1) summary
      cl21455
      Location:65 → 171
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_017021664.2 → XP_016877153.1  iron-sulfur protein NUBPL isoform X2

    6. XM_047431789.1 → XP_047287745.1  iron-sulfur protein NUBPL isoform X9

    7. XM_047431787.1 → XP_047287743.1  iron-sulfur protein NUBPL isoform X7

    8. XM_011537181.3 → XP_011535483.1  iron-sulfur protein NUBPL isoform X1

      Conserved Domains (1) summary
      pfam10609
      Location:37 → 206
      ParA; NUBPL iron-transfer P-loop NTPase

    9. XM_047431786.1 → XP_047287742.1  iron-sulfur protein NUBPL isoform X3

    10. XM_011537184.4 → XP_011535486.1  iron-sulfur protein NUBPL isoform X10

      See identical proteins and their annotated locations for XP_011535486.1

      UniProtKB/TrEMBL
      B3KSK2, C9J751
      Conserved Domains (1) summary
      cl38936
      Location:1 → 128
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. XR_007064050.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      25758636..26058537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376753.1 → XP_054232728.1  iron-sulfur protein NUBPL isoform X4

    2. XM_054376755.1 → XP_054232730.1  iron-sulfur protein NUBPL isoform X6

    3. XM_054376754.1 → XP_054232729.1  iron-sulfur protein NUBPL isoform X5

    4. XM_054376751.1 → XP_054232726.1  iron-sulfur protein NUBPL isoform X2

    5. XM_054376757.1 → XP_054232732.1  iron-sulfur protein NUBPL isoform X9

    6. XM_054376756.1 → XP_054232731.1  iron-sulfur protein NUBPL isoform X7

    7. XM_054376750.1 → XP_054232725.1  iron-sulfur protein NUBPL isoform X1

    8. XM_054376752.1 → XP_054232727.1  iron-sulfur protein NUBPL isoform X3

    9. XM_054376758.1 → XP_054232733.1  iron-sulfur protein NUBPL isoform X10

      UniProtKB/TrEMBL
      B3KSK2, C9J751

    RNA

    1. XR_008488898.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB37.3 GenPept UniProtKB/Swiss-Prot:Q8TB37

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