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

Summary

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

Location:: 14q12

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (31561404..31861224)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (25758636..26058537)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (32030610..32330430)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Title: Expanding the Spectrum of NUBPL-Related Leukodystrophy.
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.
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.
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 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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122041 (e-PCR)
- UniSTS:134677

G35403 (e-PCR)
- UniSTS:33560

G36128 (e-PCR)
- UniSTS:50479

D14S941 (e-PCR)
- UniSTS:19250

D8S2279 (e-PCR)
- UniSTS:473907

WI-11174 (e-PCR)
- UniSTS:34123

G35657 (e-PCR)
- UniSTS:36950

G35639 (e-PCR)
- UniSTS:34921

G35437 (e-PCR)
- UniSTS:35179

D14S914 (e-PCR)
- UniSTS:35951

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

G35364 (e-PCR)
- UniSTS:58247

SHGC-82729 (e-PCR)
- UniSTS:100748

D11S3114 (e-PCR)
- UniSTS:152207

D14S1040 (e-PCR), detects polymorphism
- UniSTS:52623

G35381 (e-PCR)
- UniSTS:70046

G35670 (e-PCR)
- UniSTS:44719

SHGC-37051 (e-PCR)
- UniSTS:8154

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
located_in mitochondrion	HTP more info	PubMed
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

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

NG_028349.1 RefSeqGene

Range

5020..304840

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

31561404..31861224

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000449918.1, ENST00000547839.5
XM_017021665.3 → XP_016877154.1 iron-sulfur cluster transfer protein NUBPL isoform X4

Conserved Domains (1) summary

cl21455
Location:65 → 171

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017021666.2 → XP_016877155.1 iron-sulfur cluster transfer protein NUBPL isoform X6
XM_011537183.3 → XP_011535485.1 iron-sulfur cluster transfer protein NUBPL isoform X5

Conserved Domains (1) summary

cl21455
Location:65 → 171

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017021664.2 → XP_016877153.1 iron-sulfur cluster transfer protein NUBPL isoform X2
XM_047431789.1 → XP_047287745.1 iron-sulfur cluster transfer protein NUBPL isoform X9
XM_047431787.1 → XP_047287743.1 iron-sulfur cluster transfer protein NUBPL isoform X7
XM_011537181.3 → XP_011535483.1 iron-sulfur cluster transfer protein NUBPL isoform X1

Conserved Domains (1) summary

pfam10609
Location:37 → 206

ParA; NUBPL iron-transfer P-loop NTPase
XM_047431786.1 → XP_047287742.1 iron-sulfur cluster transfer protein NUBPL isoform X3
XM_011537184.4 → XP_011535486.1 iron-sulfur cluster transfer 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

XR_007064050.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

25758636..26058537

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376753.1 → XP_054232728.1 iron-sulfur cluster transfer protein NUBPL isoform X4
XM_054376755.1 → XP_054232730.1 iron-sulfur cluster transfer protein NUBPL isoform X6
XM_054376754.1 → XP_054232729.1 iron-sulfur cluster transfer protein NUBPL isoform X5
XM_054376751.1 → XP_054232726.1 iron-sulfur cluster transfer protein NUBPL isoform X2
XM_054376757.1 → XP_054232732.1 iron-sulfur cluster transfer protein NUBPL isoform X9
XM_054376756.1 → XP_054232731.1 iron-sulfur cluster transfer protein NUBPL isoform X7
XM_054376750.1 → XP_054232725.1 iron-sulfur cluster transfer protein NUBPL isoform X1
XM_054376752.1 → XP_054232727.1 iron-sulfur cluster transfer protein NUBPL isoform X3
XM_054376758.1 → XP_054232733.1 iron-sulfur cluster transfer protein NUBPL isoform X10

UniProtKB/TrEMBL

B3KSK2, C9J751