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UniProtKB - Q7L592 (NDUF7_HUMAN)

Entry version 138 (02 Jun 2021)
Sequence version 1 (05 Jul 2004)
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Protein

Protein arginine methyltransferase NDUFAF7, mitochondrial

Gene

NDUFAF7

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

Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397).

Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).

3 Publications

Caution

Stoichiometry of the protein is unclear. According to a report, it forms a homodimer (PubMed:20406883). According to another publication, it is mainly monomeric (PubMed:24838397).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionMethyltransferase, Transferase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7L592

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:
Protein arginine methyltransferase NDUFAF7, mitochondrialCurated (EC:2.1.1.3201 Publication)
Alternative name(s):
NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
Protein midA homolog1 Publication
<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:NDUFAF7Imported
Synonyms:C2orf56Imported
ORF Names:PRO1853
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28816, NDUFAF7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615898, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7L592

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000003509.15

<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

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

Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye.1 Publication

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>Mutagenesisi124G → V: Loss of function. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		55471

Open Targets

More...OpenTargetsi		ENSG00000003509

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162379266

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7L592, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDUFAF7

Domain mapping of disease mutations (DMDM)

More...DMDMi		74749891

<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 – 46MitochondrionSequence analysisAdd BLAST46
<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_000031567247 – 441Protein arginine methyltransferase NDUFAF7, mitochondrialAdd BLAST395

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7L592

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7L592

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7L592

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7L592

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

More...PaxDbi		Q7L592

PeptideAtlas

More...PeptideAtlasi		Q7L592

PRoteomics IDEntifications database

More...PRIDEi		Q7L592

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68801 [Q7L592-1]
68802 [Q7L592-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7L592

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

More...PhosphoSitePlusi		Q7L592

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000003509, Expressed in testis and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7L592, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7L592, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000003509, Tissue enhanced (testis)

<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 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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NDUFS2 (PubMed:20406883, PubMed:24089531).

1 Publication

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120676, 51 interactors

Protein interaction database and analysis system

More...IntActi		Q7L592, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000002125

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7L592, 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

More...SMRi		Q7L592

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

Belongs to the NDUFAF7 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2901, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001588

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7L592

Identification of Orthologs from Complete Genome Data

More...OMAi		YYHPQRN

Database of Orthologous Groups

More...OrthoDBi		491869at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7L592

TreeFam database of animal gene trees

More...TreeFami		TF314312

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.12710, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003788, NDUFAF7
IPR038375, NDUFAF7_sf
IPR029063, SAM-dependent_MTases

The PANTHER Classification System

More...PANTHERi		PTHR12049, PTHR12049, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02636, Methyltransf_28, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53335, SSF53335, 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.<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7L592-1) [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
MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK 
        60         70         80         90        100
IKSTGPITVA EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL 
       110        120        130        140        150
LGIWFISEWM ATGKSTAFQL VELGPGRGTL VGDILRVFTQ LGSVLKNCDI 
       160        170        180        190        200
SVHLVEVSQK LSEIQALTLT KEKVPLERNA GSPVYMKGVT KSGIPISWYR 
       210        220        230        240        250
DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI DPQVSDKLRF 
       260        270        280        290        300
VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD 
       310        320        330        340        350
YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS 
       360        370        380        390        400
LGPIKQHTFL KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE 
       410        420        430        440 
RFNFFALLPH QRLQGGRYQR NARQSKPFAS VVAGFSELAW Q
Length:441
Mass (Da):49,238
Last modified:July 5, 2004 - v1
<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:i9F3D667CCE470623
GO
Isoform 2 (identifier: Q7L592-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-99: Missing.
     157-227: Missing.

Show »
Length:343
Mass (Da):38,022
Checksum:iAEFBDC33EAAA2AF6
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0W7B4E0W7_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
137Annotation score:

Annotation score:2 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>
C9J236C9J236_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
230Annotation score:

Annotation score:2 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>
C9JEL7C9JEL7_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
111Annotation score:

Annotation score:2 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>
C9JP36C9JP36_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
148Annotation score:

Annotation score:2 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>
C9JS27C9JS27_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
267Annotation score:

Annotation score:2 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>
H7C3N5H7C3N5_HUMAN
Protein arginine methyltransferase ...
NDUFAF7
88Annotation score:

Annotation score:2 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 AAF71091 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH12374 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

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_03827439P → A. Corresponds to variant dbSNP:rs2714473EnsemblClinVar.1
Natural variantiVAR_079608266D → E Probable disease-associated variant found in patients with pathologic myopia; may decrease mitochondrial complex I activity; decreases the production of ATP; decreases reactive oxygen species production. 1 Publication1

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_03060673 – 99Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_030607157 – 227Missing in isoform 2. 1 PublicationAdd BLAST71

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
BX538031 mRNA Translation: CAD97976.1
AC007390 Genomic DNA Translation: AAY14816.1
CH471053 Genomic DNA Translation: EAX00402.1
BC004548 mRNA Translation: AAH04548.2
BC012374 mRNA Translation: AAH12374.2 Different initiation.
AF116671 mRNA Translation: AAF71091.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1788.1 [Q7L592-1]
CCDS42673.1 [Q7L592-2]

NCBI Reference Sequences

More...RefSeqi		NP_001077415.1, NM_001083946.1 [Q7L592-2]
NP_653337.1, NM_144736.4 [Q7L592-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000002125; ENSP00000002125; ENSG00000003509 [Q7L592-1]
ENST00000336237; ENSP00000337431; ENSG00000003509 [Q7L592-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55471

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55471

UCSC genome browser

More...UCSCi		uc002rqa.6, human [Q7L592-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
BX538031 mRNA Translation: CAD97976.1
AC007390 Genomic DNA Translation: AAY14816.1
CH471053 Genomic DNA Translation: EAX00402.1
BC004548 mRNA Translation: AAH04548.2
BC012374 mRNA Translation: AAH12374.2 Different initiation.
AF116671 mRNA Translation: AAF71091.1 Different initiation.
CCDSiCCDS1788.1 [Q7L592-1]
CCDS42673.1 [Q7L592-2]
RefSeqiNP_001077415.1, NM_001083946.1 [Q7L592-2]
NP_653337.1, NM_144736.4 [Q7L592-1]

3D structure databases

SMRiQ7L592
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120676, 51 interactors
IntActiQ7L592, 31 interactors
STRINGi9606.ENSP00000002125

PTM databases

iPTMnetiQ7L592
PhosphoSitePlusiQ7L592

Genetic variation databases

BioMutaiNDUFAF7
DMDMi74749891

Proteomic databases

EPDiQ7L592
jPOSTiQ7L592
MassIVEiQ7L592
MaxQBiQ7L592
PaxDbiQ7L592
PeptideAtlasiQ7L592
PRIDEiQ7L592
ProteomicsDBi68801 [Q7L592-1]
68802 [Q7L592-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52425, 121 antibodies

The DNASU plasmid repository

More...DNASUi		55471

Genome annotation databases

EnsembliENST00000002125; ENSP00000002125; ENSG00000003509 [Q7L592-1]
ENST00000336237; ENSP00000337431; ENSG00000003509 [Q7L592-2]
GeneIDi55471
KEGGihsa:55471
UCSCiuc002rqa.6, human [Q7L592-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55471
DisGeNETi55471

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDUFAF7
HGNCiHGNC:28816, NDUFAF7
HPAiENSG00000003509, Tissue enhanced (testis)
MIMi615898, gene
neXtProtiNX_Q7L592
OpenTargetsiENSG00000003509
PharmGKBiPA162379266
VEuPathDBiHostDB:ENSG00000003509.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2901, Eukaryota
GeneTreeiENSGT00390000001588
InParanoidiQ7L592
OMAiYYHPQRN
OrthoDBi491869at2759
PhylomeDBiQ7L592
TreeFamiTF314312

Enzyme and pathway databases

PathwayCommonsiQ7L592
ReactomeiR-HSA-6799198, Complex I biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55471, 173 hits in 995 CRISPR screens

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

More...ChiTaRSi		NDUFAF7, human

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

More...GenomeRNAii		55471
PharosiQ7L592, Tbio

Protein Ontology

More...PROi		PR:Q7L592
RNActiQ7L592, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000003509, Expressed in testis and 219 other tissues
ExpressionAtlasiQ7L592, baseline and differential
GenevisibleiQ7L592, HS

Family and domain databases

Gene3Di3.40.50.12710, 1 hit
InterProiView protein in InterPro
IPR003788, NDUFAF7
IPR038375, NDUFAF7_sf
IPR029063, SAM-dependent_MTases
PANTHERiPTHR12049, PTHR12049, 1 hit
PfamiView protein in Pfam
PF02636, Methyltransf_28, 1 hit
SUPFAMiSSF53335, SSF53335, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiNDUF7_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: Q7L592
Secondary accession number(s): Q7Z399, Q9P1G3
<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: January 15, 2008
Last sequence update: July 5, 2004
Last modified: June 2, 2021
This is version 138 of the entry and version 1 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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