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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
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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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