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Protein

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Gene

NFU1

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

Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi210Iron-sulfur (4Fe-4S); shared with dimeric partner1 Publication1
Metal bindingi213Iron-sulfur (4Fe-4S); shared with dimeric partner1 Publication1

<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

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB
  • iron ion binding Source: UniProtKB

GO - Biological processi

  • iron-sulfur cluster assembly Source: UniProtKB
  • protein maturation by iron-sulfur cluster transfer Source: GO_Central

<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

LigandIron, Iron-sulfur, Metal-binding

<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_and_taxonomy_section">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:
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Alternative name(s):
HIRA-interacting protein 51 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NFU1
Synonyms:HIRIP51 Publication
ORF Names:CGI-331 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169599.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16287 NFU1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608100 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UMS0

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
See also OMIM:605711
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_07975721R → P in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. 1 PublicationCorresponds to variant dbSNP:rs776875884Ensembl.1
Natural variantiVAR_079758182R → W in MMDS1; patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. 1 Publication1
Natural variantiVAR_079759189G → R in MMDS1; alters protein structure; increases likelihood of existing as monomer; decreases ability to receive a Fe/S clusters from donor proteins; decreases delivery rates of [2Fe-2S] cluster to target proteins. 2 Publications1
Natural variantiVAR_079760190G → R in MMDS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_066639208G → C in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; increases homodimerization; unable to receive a Fe/S clusters from donor proteins; changes delivery rates of [2Fe-2S] cluster to target proteins. 3 PublicationsCorresponds to variant dbSNP:rs374514431EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi189G → A: Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. 1 Publication1
Mutagenesisi189G → K: Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
27247

MalaCards human disease database

More...
MalaCardsi
NFU1
MIMi605711 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169599

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

More...
Orphaneti
401869 Multiple mitochondrial dysfunctions syndrome type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162397454

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NFU1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205371805

<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 – 9MitochondrionSequence analysis9
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000016619110 – 254NFU1 iron-sulfur cluster scaffold homolog, mitochondrialAdd BLAST245

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UMS0

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

More...
PaxDbi
Q9UMS0

PeptideAtlas

More...
PeptideAtlasi
Q9UMS0

PRoteomics IDEntifications database

More...
PRIDEi
Q9UMS0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85204
85205 [Q9UMS0-2]
85206 [Q9UMS0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UMS0

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

More...
PhosphoSitePlusi
Q9UMS0

<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

Ubiquitous. Expression in adult lung is weak compared to fetal lung.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in embryo and adult.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169599 Expressed in 231 organ(s), highest expression level in myocardium

CleanEx database of gene expression profiles

More...
CleanExi
HS_NFU1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UMS0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UMS0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035826

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer and homohexamer; the apo-NFU1 is a monomer, while the holo-NFU1 is a hexamer composed of a trimer of dimer that is probably linked by some 4Fe-4S cluster (PubMed:27818104). Interacts with HIRA and EPM2A/laforin (PubMed:12915448). Interacts with BOLA3 (PubMed:27532772). Interacts with HSPA9 (PubMed:26702583).4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
118095, 11 interactors

Protein interaction database and analysis system

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IntActi
Q9UMS0, 24 interactors

Molecular INTeraction database

More...
MINTi
Q9UMS0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000387219

<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

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9UMS0

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

More...
SMRi
Q9UMS0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni173 – 241NifUAdd BLAST69

<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

Belongs to the NifU family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2358 Eukaryota
COG0694 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011296

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG054438

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UMS0

KEGG Orthology (KO)

More...
KOi
K22074

Identification of Orthologs from Complete Genome Data

More...
OMAi
RMLMHYI

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0MY5

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UMS0

TreeFam database of animal gene trees

More...
TreeFami
TF315076

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.70, 1 hit
3.30.300.130, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR034904 FSCA_dom_sf
IPR014824 Nfu/NifU_N
IPR036498 Nfu/NifU_N_sf
IPR035433 NFU1-like
IPR001075 NIF_FeS_clus_asmbl_NifU_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08712 Nfu_N, 1 hit
PF01106 NifU, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036773 HIRIP5, 1 hit

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD002830 NIF_FeS_clus_asmbl_NifU_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00932 Nfu_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF110836 SSF110836, 1 hit
SSF117916 SSF117916, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UMS0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA
60 70 80 90 100
AFYHPVRYMF IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA
110 120 130 140 150
RQLFRIEGVK SVFFGPDFIT VTKENEELDW NLLKPDIYAT IMDFFASGLP
160 170 180 190 200
LVTEETPSGE AGSEEDDEVV AMIKELLDTR IRPTVQEDGG DVIYKGFEDG
210 220 230 240 250
IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ VMDDESDEKE

ANSP
Length:254
Mass (Da):28,463
Last modified:September 2, 2008 - v2
<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:iE84B7F47A4A282CF
GO
Isoform 2 (identifier: Q9UMS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-141: Missing.

Note: No experimental confirmation available.
Show »
Length:113
Mass (Da):12,347
Checksum:iC46A36AEC7E4C515
GO
Isoform 3 (identifier: Q9UMS0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:230
Mass (Da):25,924
Checksum:i2B953543B3A68DCC
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
C9J8Q1C9J8Q1_HUMAN
NFU1 iron-sulfur cluster scaffold h...
NFU1
96Annotation 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>
H7C537H7C537_HUMAN
NFU1 iron-sulfur cluster scaffold h...
NFU1
126Annotation 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>
F8W9P7F8W9P7_HUMAN
NFU1 iron-sulfur cluster scaffold h...
NFU1
99Annotation 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>
F8WET4F8WET4_HUMAN
NFU1 iron-sulfur cluster scaffold h...
NFU1
39Annotation 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>
F8WAV1F8WAV1_HUMAN
NFU1 iron-sulfur cluster scaffold h...
NFU1
42Annotation 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 AAD27742 differs from that shown. Reason: Frameshift at positions 5, 16, 115 and 117.Curated
The sequence AAY14828 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAG36716 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB53015 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti158S → P in AAD27742 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07975721R → P in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes. 1 PublicationCorresponds to variant dbSNP:rs776875884Ensembl.1
Natural variantiVAR_04442925M → K2 PublicationsCorresponds to variant dbSNP:rs4453725EnsemblClinVar.1
Natural variantiVAR_079758182R → W in MMDS1; patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content. 1 Publication1
Natural variantiVAR_079759189G → R in MMDS1; alters protein structure; increases likelihood of existing as monomer; decreases ability to receive a Fe/S clusters from donor proteins; decreases delivery rates of [2Fe-2S] cluster to target proteins. 2 Publications1
Natural variantiVAR_079760190G → R in MMDS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_066639208G → C in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; increases homodimerization; unable to receive a Fe/S clusters from donor proteins; changes delivery rates of [2Fe-2S] cluster to target proteins. 3 PublicationsCorresponds to variant dbSNP:rs374514431EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0412241 – 141Missing in isoform 2. 1 PublicationAdd BLAST141
Alternative sequenceiVSP_0412251 – 24Missing in isoform 3. 3 PublicationsAdd BLAST24

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ132584 mRNA Translation: CAB53015.1 Different initiation.
AY335194 mRNA Translation: AAQ73784.1
AY286306 mRNA Translation: AAP92372.1
AY286307 mRNA Translation: AAP92373.1
AF132967 mRNA Translation: AAD27742.1 Frameshift.
AK314004 mRNA Translation: BAG36716.1 Different initiation.
AK300700 mRNA Translation: BAG62381.1
DB304061 mRNA No translation available.
AC114772 Genomic DNA Translation: AAY14828.1 Sequence problems.
CH471053 Genomic DNA Translation: EAW99849.1
CH471053 Genomic DNA Translation: EAW99850.1
BC113692 mRNA Translation: AAI13693.1
BC113694 mRNA Translation: AAI13695.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33217.1 [Q9UMS0-1]
CCDS42694.1 [Q9UMS0-2]
CCDS46315.1 [Q9UMS0-3]

NCBI Reference Sequences

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RefSeqi
NP_001002755.1, NM_001002755.2 [Q9UMS0-1]
NP_001002756.1, NM_001002756.2 [Q9UMS0-2]
NP_056515.2, NM_015700.3 [Q9UMS0-3]
XP_016859297.1, XM_017003808.1 [Q9UMS0-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.430439

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000303698; ENSP00000306965; ENSG00000169599 [Q9UMS0-3]
ENST00000394305; ENSP00000377842; ENSG00000169599 [Q9UMS0-2]
ENST00000410022; ENSP00000387219; ENSG00000169599 [Q9UMS0-1]
ENST00000462320; ENSP00000418598; ENSG00000169599 [Q9UMS0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27247

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27247

UCSC genome browser

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UCSCi
uc002sfj.4 human [Q9UMS0-1]

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
AJ132584 mRNA Translation: CAB53015.1 Different initiation.
AY335194 mRNA Translation: AAQ73784.1
AY286306 mRNA Translation: AAP92372.1
AY286307 mRNA Translation: AAP92373.1
AF132967 mRNA Translation: AAD27742.1 Frameshift.
AK314004 mRNA Translation: BAG36716.1 Different initiation.
AK300700 mRNA Translation: BAG62381.1
DB304061 mRNA No translation available.
AC114772 Genomic DNA Translation: AAY14828.1 Sequence problems.
CH471053 Genomic DNA Translation: EAW99849.1
CH471053 Genomic DNA Translation: EAW99850.1
BC113692 mRNA Translation: AAI13693.1
BC113694 mRNA Translation: AAI13695.1
CCDSiCCDS33217.1 [Q9UMS0-1]
CCDS42694.1 [Q9UMS0-2]
CCDS46315.1 [Q9UMS0-3]
RefSeqiNP_001002755.1, NM_001002755.2 [Q9UMS0-1]
NP_001002756.1, NM_001002756.2 [Q9UMS0-2]
NP_056515.2, NM_015700.3 [Q9UMS0-3]
XP_016859297.1, XM_017003808.1 [Q9UMS0-3]
UniGeneiHs.430439

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LTMNMR-A59-155[»]
2M5ONMR-A162-247[»]
ProteinModelPortaliQ9UMS0
SMRiQ9UMS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118095, 11 interactors
IntActiQ9UMS0, 24 interactors
MINTiQ9UMS0
STRINGi9606.ENSP00000387219

PTM databases

iPTMnetiQ9UMS0
PhosphoSitePlusiQ9UMS0

Polymorphism and mutation databases

BioMutaiNFU1
DMDMi205371805

Proteomic databases

EPDiQ9UMS0
PaxDbiQ9UMS0
PeptideAtlasiQ9UMS0
PRIDEiQ9UMS0
ProteomicsDBi85204
85205 [Q9UMS0-2]
85206 [Q9UMS0-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
27247
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303698; ENSP00000306965; ENSG00000169599 [Q9UMS0-3]
ENST00000394305; ENSP00000377842; ENSG00000169599 [Q9UMS0-2]
ENST00000410022; ENSP00000387219; ENSG00000169599 [Q9UMS0-1]
ENST00000462320; ENSP00000418598; ENSG00000169599 [Q9UMS0-2]
GeneIDi27247
KEGGihsa:27247
UCSCiuc002sfj.4 human [Q9UMS0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27247
DisGeNETi27247
EuPathDBiHostDB:ENSG00000169599.12

GeneCards: human genes, protein and diseases

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GeneCardsi
NFU1
HGNCiHGNC:16287 NFU1
HPAiHPA035826
MalaCardsiNFU1
MIMi605711 phenotype
608100 gene
neXtProtiNX_Q9UMS0
OpenTargetsiENSG00000169599
Orphaneti401869 Multiple mitochondrial dysfunctions syndrome type 1
PharmGKBiPA162397454

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2358 Eukaryota
COG0694 LUCA
GeneTreeiENSGT00390000011296
HOVERGENiHBG054438
InParanoidiQ9UMS0
KOiK22074
OMAiRMLMHYI
OrthoDBiEOG091G0MY5
PhylomeDBiQ9UMS0
TreeFamiTF315076

Miscellaneous databases

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

More...
ChiTaRSi
NFU1 human

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

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GenomeRNAii
27247

Protein Ontology

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PROi
PR:Q9UMS0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169599 Expressed in 231 organ(s), highest expression level in myocardium
CleanExiHS_NFU1
ExpressionAtlasiQ9UMS0 baseline and differential
GenevisibleiQ9UMS0 HS

Family and domain databases

Gene3Di3.30.1370.70, 1 hit
3.30.300.130, 1 hit
InterProiView protein in InterPro
IPR034904 FSCA_dom_sf
IPR014824 Nfu/NifU_N
IPR036498 Nfu/NifU_N_sf
IPR035433 NFU1-like
IPR001075 NIF_FeS_clus_asmbl_NifU_C
PfamiView protein in Pfam
PF08712 Nfu_N, 1 hit
PF01106 NifU, 1 hit
PIRSFiPIRSF036773 HIRIP5, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD002830 NIF_FeS_clus_asmbl_NifU_C, 1 hit
SMARTiView protein in SMART
SM00932 Nfu_N, 1 hit
SUPFAMiSSF110836 SSF110836, 1 hit
SSF117916 SSF117916, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiNFU1_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: Q9UMS0
Secondary accession number(s): B4DUL9
, Q53QE5, Q6VNZ8, Q7Z5B1, Q7Z5B2, Q9Y322
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: September 2, 2008
Last modified: November 7, 2018
This is version 156 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

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