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Entry version 154 (07 Oct 2020)
Sequence version 3 (17 Oct 2006)
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Protein

Iron-sulfur protein NUBPL

Gene

NUBPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.1 Publication

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[4Fe-4S] clusterNote: Binds 1 [4Fe-4S] cluster.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi75 – 82ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8TB37

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6799198, Complex I biogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Iron-sulfur protein NUBPL
Alternative name(s):
IND1 homolog
Nucleotide-binding protein-like
huInd1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NUBPL
Synonyms:C14orf127
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000151413.16

Human Gene Nomenclature Database

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HGNCi
HGNC:20278, NUBPL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613621, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TB37

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069767105D → Y in MC1DN21. 1 PublicationCorresponds to variant dbSNP:rs397515440EnsemblClinVar.1
Natural variantiVAR_069768193L → F in MC1DN21. 1 PublicationCorresponds to variant dbSNP:rs552722349EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi244C → A: Defect in complex I assembly; when associated with A-247. 1 Publication1
Mutagenesisi247C → A: Defect in complex I assembly; when associated with A-244. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
80224

MalaCards human disease database

More...
MalaCardsi
NUBPL
MIMi618242, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151413

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2609, Isolated complex I deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134907818

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TB37, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NUBPL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242683

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 38MitochondrionSequence analysisAdd BLAST38
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000018495039 – 319Iron-sulfur protein NUBPLAdd BLAST281

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TB37

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TB37

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8TB37

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8TB37

PeptideAtlas

More...
PeptideAtlasi
Q8TB37

PRoteomics IDEntifications database

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PRIDEi
Q8TB37

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
73958 [Q8TB37-1]
73959 [Q8TB37-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TB37

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8TB37

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000151413, Expressed in calcaneal tendon and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TB37, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TB37, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000151413, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123190, 12 interactors

Protein interaction database and analysis system

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IntActi
Q8TB37, 10 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000281081

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8TB37, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8TB37

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3022, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00950000183193

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_024839_0_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TB37

KEGG Orthology (KO)

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KOi
K03593

Identification of Orthologs from Complete Genome Data

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OMAi
NMAYFTP

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TB37

TreeFam database of animal gene trees

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TreeFami
TF323196

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_02040, Mrp_NBP35, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019591, Mrp/NBP35_ATP-bd
IPR000808, Mrp_CS
IPR027417, P-loop_NTPase
IPR033756, YlxH/NBP35

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10609, ParA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01215, MRP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TB37-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGIWQRLLLF GGVSLRAGGG ATAPLGGSRA MVCGRQLSGA GSETLKQRRT
60 70 80 90 100
QIMSRGLPKQ KPIEGVKQVI VVASGKGGVG KSTTAVNLAL ALAANDSSKA
110 120 130 140 150
IGLLDVDVYG PSVPKMMNLK GNPELSQSNL MRPLLNYGIA CMSMGFLVEE
160 170 180 190 200
SEPVVWRGLM VMSAIEKLLR QVDWGQLDYL VVDMPPGTGD VQLSVSQNIP
210 220 230 240 250
ITGAVIVSTP QDIALMDAHK GAEMFRRVHV PVLGLVQNMS VFQCPKCKHK
260 270 280 290 300
THIFGADGAR KLAQTLGLEV LGDIPLHLNI REASDTGQPI VFSQPESDEA
310
KAYLRIAVEV VRRLPSPSE
Length:319
Mass (Da):34,083
Last modified:October 17, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A497482A4D449A4
GO
Isoform 2 (identifier: Q8TB37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-173: D → L
     174-319: Missing.

Note: May be due to exon skipping.Curated
Show »
Length:173
Mass (Da):18,209
Checksum:iAE55B86E97B19D50
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W061F8W061_HUMAN
Iron-sulfur protein NUBPL
NUBPL
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W0A2F8W0A2_HUMAN
Iron-sulfur protein NUBPL
NUBPL
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VZR8F8VZR8_HUMAN
Iron-sulfur protein NUBPL
NUBPL
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YHR7H0YHR7_HUMAN
Iron-sulfur protein NUBPL
NUBPL
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VP02F8VP02_HUMAN
Iron-sulfur protein NUBPL
NUBPL
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH24919 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14203 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAD62349 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06457056G → R Rare variant found in a patient with mitochondrial complex I deficiency; unknown pathological significance; found in association with a nucleotide transition causing exon skipping; does not affect protein stability, processing and import in the mitochondrion; can restore complex I activity when overexpressed in patient fibroblasts. 3 PublicationsCorresponds to variant dbSNP:rs200401432EnsemblClinVar.1
Natural variantiVAR_069767105D → Y in MC1DN21. 1 PublicationCorresponds to variant dbSNP:rs397515440EnsemblClinVar.1
Natural variantiVAR_069768193L → F in MC1DN21. 1 PublicationCorresponds to variant dbSNP:rs552722349EnsemblClinVar.1
Natural variantiVAR_027895198N → T1 PublicationCorresponds to variant dbSNP:rs11558436EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_020985173D → L in isoform 2. 1 Publication1
Alternative sequenceiVSP_008797174 – 319Missing in isoform 2. 1 PublicationAdd BLAST146

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
BX248028 mRNA Translation: CAD62349.1 Different initiation.
AK022722 mRNA Translation: BAB14203.1 Different initiation.
AK295326 mRNA Translation: BAG58303.1
AK316445 mRNA Translation: BAH14816.1
CH471078 Genomic DNA Translation: EAW65942.1
BC024919 mRNA Translation: AAH24919.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41940.1 [Q8TB37-1]

NCBI Reference Sequences

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RefSeqi
NP_001188502.1, NM_001201573.1
NP_079428.2, NM_025152.2 [Q8TB37-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281081; ENSP00000281081; ENSG00000151413 [Q8TB37-1]
ENST00000547839; ENSP00000449918; ENSG00000151413 [Q8TB37-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80224

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80224

UCSC genome browser

More...
UCSCi
uc059apb.1, human [Q8TB37-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX248028 mRNA Translation: CAD62349.1 Different initiation.
AK022722 mRNA Translation: BAB14203.1 Different initiation.
AK295326 mRNA Translation: BAG58303.1
AK316445 mRNA Translation: BAH14816.1
CH471078 Genomic DNA Translation: EAW65942.1
BC024919 mRNA Translation: AAH24919.1 Different initiation.
CCDSiCCDS41940.1 [Q8TB37-1]
RefSeqiNP_001188502.1, NM_001201573.1
NP_079428.2, NM_025152.2 [Q8TB37-1]

3D structure databases

SMRiQ8TB37
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123190, 12 interactors
IntActiQ8TB37, 10 interactors
STRINGi9606.ENSP00000281081

PTM databases

iPTMnetiQ8TB37
PhosphoSitePlusiQ8TB37

Polymorphism and mutation databases

BioMutaiNUBPL
DMDMi116242683

Proteomic databases

EPDiQ8TB37
jPOSTiQ8TB37
MassIVEiQ8TB37
PaxDbiQ8TB37
PeptideAtlasiQ8TB37
PRIDEiQ8TB37
ProteomicsDBi73958 [Q8TB37-1]
73959 [Q8TB37-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
23093, 237 antibodies

The DNASU plasmid repository

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DNASUi
80224

Genome annotation databases

EnsembliENST00000281081; ENSP00000281081; ENSG00000151413 [Q8TB37-1]
ENST00000547839; ENSP00000449918; ENSG00000151413 [Q8TB37-2]
GeneIDi80224
KEGGihsa:80224
UCSCiuc059apb.1, human [Q8TB37-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
80224
DisGeNETi80224
EuPathDBiHostDB:ENSG00000151413.16

GeneCards: human genes, protein and diseases

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GeneCardsi
NUBPL
HGNCiHGNC:20278, NUBPL
HPAiENSG00000151413, Low tissue specificity
MalaCardsiNUBPL
MIMi613621, gene
618242, phenotype
neXtProtiNX_Q8TB37
OpenTargetsiENSG00000151413
Orphaneti2609, Isolated complex I deficiency
PharmGKBiPA134907818

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3022, Eukaryota
GeneTreeiENSGT00950000183193
HOGENOMiCLU_024839_0_2_1
InParanoidiQ8TB37
KOiK03593
OMAiNMAYFTP
PhylomeDBiQ8TB37
TreeFamiTF323196

Enzyme and pathway databases

PathwayCommonsiQ8TB37
ReactomeiR-HSA-6799198, Complex I biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
80224, 88 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NUBPL, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
80224
PharosiQ8TB37, Tbio

Protein Ontology

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PROi
PR:Q8TB37
RNActiQ8TB37, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151413, Expressed in calcaneal tendon and 225 other tissues
ExpressionAtlasiQ8TB37, baseline and differential
GenevisibleiQ8TB37, HS

Family and domain databases

HAMAPiMF_02040, Mrp_NBP35, 1 hit
InterProiView protein in InterPro
IPR019591, Mrp/NBP35_ATP-bd
IPR000808, Mrp_CS
IPR027417, P-loop_NTPase
IPR033756, YlxH/NBP35
PfamiView protein in Pfam
PF10609, ParA, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS01215, MRP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNUBPL_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TB37
Secondary accession number(s): B4DHZ1, Q86TZ4, Q9H9M2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 17, 2006
Last modified: October 7, 2020
This is version 154 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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