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Entry version 158 (16 Oct 2019)
Sequence version 2 (20 Jun 2002)
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Protein

Complex I intermediate-associated protein 30, mitochondrial

Gene

NDUFAF1

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

Chaperone protein involved in early stages of the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).2 Publications

Caution

There is a putative pseudogene of CIA30 on chromosome 19 (19p12).Curated

<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

Molecular functionChaperone

Enzyme and pathway databases

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_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:
Complex I intermediate-associated protein 30, mitochondrial
Alternative name(s):
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1
<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:NDUFAF1
Synonyms:CIA30
ORF Names:CGI-65
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18828 NDUFAF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606934 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y375

<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 11 (MC1DN11)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. MC1DN11 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_081445207T → P in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs387906956EnsemblClinVar.1
Natural variantiVAR_081446211R → C in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs387906958EnsemblClinVar.1
Natural variantiVAR_081447245G → R in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs376344575Ensembl.1
Natural variantiVAR_081448252 – 253Missing in MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain transcripts lacking the final 6 base pairs of exon 3 but also contain normally spliced transcripts corresponding to protein variant R-253. 1 Publication2
Natural variantiVAR_081449253K → R in MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain normally spliced transcripts corresponding to protein variant R-253 but also transcripts lacking the final 6 base pairs of exon 3 and corresponding to protein variant 252-VK-253 del. 1 PublicationCorresponds to variant dbSNP:rs387906957EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
51103

MalaCards human disease database

More...
MalaCardsi
NDUFAF1
MIMi618234 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000137806

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
PA134934729

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y375

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2363065

DrugCentral

More...
DrugCentrali
Q9Y375

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NDUFAF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21542405

<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 – 24MitochondrionSequence analysisAdd BLAST24
<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_000000546425 – 327Complex I intermediate-associated protein 30, mitochondrialAdd BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei318PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y375

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y375

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y375

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y375

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

More...
PaxDbi
Q9Y375

PeptideAtlas

More...
PeptideAtlasi
Q9Y375

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y375

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85980

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y375

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

More...
PhosphoSitePlusi
Q9Y375

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000137806 Expressed in 214 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y375 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y375 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039933
HPA040064

<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

Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity).

Interacts with ECSIT (PubMed:17344420).

Interacts with ACAD9 (PubMed:20816094). At early stages of complex I assembly, it is found in intermediate subcomplexes that contain different subunits including NDUFB6, NDUFA6, NDUFA9, NDUFS3, NDUFS7, ND1, ND2 and ND3 (PubMed:17557076).

By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119292, 48 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9Y375

Protein interaction database and analysis system

More...
IntActi
Q9Y375, 51 interactors

Molecular INTeraction database

More...
MINTi
Q9Y375

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000260361

<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 CIA30 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2435 Eukaryota
ENOG410XQPB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000007200

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231763

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y375

KEGG Orthology (KO)

More...
KOi
K18159

Identification of Orthologs from Complete Genome Data

More...
OMAi
TFWEREK

Database of Orthologous Groups

More...
OrthoDBi
1563319at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y375

TreeFam database of animal gene trees

More...
TreeFami
TF314819

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR013857 NADH-UbQ_OxRdtase-assoc_prot30
IPR039131 NDUFAF1

The PANTHER Classification System

More...
PANTHERi
PTHR13194 PTHR13194, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08547 CIA30, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49785 SSF49785, 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>. 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>Sequence (1+)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 has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9Y375-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALVHKLLRG TYFLRKFSKP TSALYPFLGI RFAEYSSSLQ KPVASPGKAS
60 70 80 90 100
SQRKTEGDLQ GDHQKEVALD ITSSEEKPDV SFDKAIRDEA IYHFRLLKDE
110 120 130 140 150
IVDHWRGPEG HPLHEVLLEQ AKVVWQFRGK EDLDKWTVTS DKTIGGRSEV
160 170 180 190 200
FLKMGKNNQS ALLYGTLSSE APQDGESTRS GYCAMISRIP RGAFERKMSY
210 220 230 240 250
DWSQFNTLYL RVRGDGRPWM VNIKEDTDFF QRTNQMYSYF MFTRGGPYWQ
260 270 280 290 300
EVKIPFSKFF FSNRGRIRDV QHELPLDKIS SIGFTLADKV DGPFFLEIDF
310 320
IGVFTDPAHT EEFAYENSPE LNPRLFK
Length:327
Mass (Da):37,764
Last modified:June 20, 2002 - 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:i13D76605CC50DFF7
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNB7H0YNB7_HUMAN
Complex I intermediate-associated p...
NDUFAF1
209Annotation 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>
H0YNN4H0YNN4_HUMAN
Complex I intermediate-associated p...
NDUFAF1
191Annotation 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>
H0YL22H0YL22_HUMAN
Complex I intermediate-associated p...
NDUFAF1
261Annotation 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>

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 conflicti178T → S in AAD34060 (PubMed:10810093).Curated1
Sequence conflicti195E → K in AAD34060 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0135599R → H1 PublicationCorresponds to variant dbSNP:rs1899EnsemblClinVar.1
Natural variantiVAR_01356031R → L1 PublicationCorresponds to variant dbSNP:rs3204853EnsemblClinVar.1
Natural variantiVAR_013561176E → K1 PublicationCorresponds to variant dbSNP:rs35227875EnsemblClinVar.1
Natural variantiVAR_081445207T → P in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs387906956EnsemblClinVar.1
Natural variantiVAR_081446211R → C in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs387906958EnsemblClinVar.1
Natural variantiVAR_081447245G → R in MC1DN11. 1 PublicationCorresponds to variant dbSNP:rs376344575Ensembl.1
Natural variantiVAR_081448252 – 253Missing in MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain transcripts lacking the final 6 base pairs of exon 3 but also contain normally spliced transcripts corresponding to protein variant R-253. 1 Publication2
Natural variantiVAR_081449253K → R in MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain normally spliced transcripts corresponding to protein variant R-253 but also transcripts lacking the final 6 base pairs of exon 3 and corresponding to protein variant 252-VK-253 del. 1 PublicationCorresponds to variant dbSNP:rs387906957EnsemblClinVar.1
Natural variantiVAR_013562314A → G1 PublicationCorresponds to variant dbSNP:rs12900702EnsemblClinVar.1

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
AF151823 mRNA Translation: AAD34060.1
BC000780 mRNA Translation: AAH00780.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10075.1

NCBI Reference Sequences

More...
RefSeqi
NP_057097.2, NM_016013.3
XP_006720618.1, XM_006720555.2
XP_011519960.1, XM_011521658.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260361; ENSP00000260361; ENSG00000137806

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51103

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51103

UCSC genome browser

More...
UCSCi
uc001znx.4 human

Keywords - Coding sequence diversityi

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
AF151823 mRNA Translation: AAD34060.1
BC000780 mRNA Translation: AAH00780.1
CCDSiCCDS10075.1
RefSeqiNP_057097.2, NM_016013.3
XP_006720618.1, XM_006720555.2
XP_011519960.1, XM_011521658.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119292, 48 interactors
CORUMiQ9Y375
IntActiQ9Y375, 51 interactors
MINTiQ9Y375
STRINGi9606.ENSP00000260361

Chemistry databases

ChEMBLiCHEMBL2363065
DrugCentraliQ9Y375

PTM databases

iPTMnetiQ9Y375
PhosphoSitePlusiQ9Y375

Polymorphism and mutation databases

BioMutaiNDUFAF1
DMDMi21542405

Proteomic databases

EPDiQ9Y375
jPOSTiQ9Y375
MassIVEiQ9Y375
MaxQBiQ9Y375
PaxDbiQ9Y375
PeptideAtlasiQ9Y375
PRIDEiQ9Y375
ProteomicsDBi85980

Genome annotation databases

EnsembliENST00000260361; ENSP00000260361; ENSG00000137806
GeneIDi51103
KEGGihsa:51103
UCSCiuc001znx.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51103
DisGeNETi51103

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NDUFAF1
HGNCiHGNC:18828 NDUFAF1
HPAiHPA039933
HPA040064
MalaCardsiNDUFAF1
MIMi606934 gene
618234 phenotype
neXtProtiNX_Q9Y375
OpenTargetsiENSG00000137806
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA134934729

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2435 Eukaryota
ENOG410XQPB LUCA
GeneTreeiENSGT00390000007200
HOGENOMiHOG000231763
InParanoidiQ9Y375
KOiK18159
OMAiTFWEREK
OrthoDBi1563319at2759
PhylomeDBiQ9Y375
TreeFamiTF314819

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

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

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ChiTaRSi
NDUFAF1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NDUFAF1

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

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GenomeRNAii
51103
PharosiQ9Y375

Protein Ontology

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PROi
PR:Q9Y375

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000137806 Expressed in 214 organ(s), highest expression level in testis
ExpressionAtlasiQ9Y375 baseline and differential
GenevisibleiQ9Y375 HS

Family and domain databases

InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR013857 NADH-UbQ_OxRdtase-assoc_prot30
IPR039131 NDUFAF1
PANTHERiPTHR13194 PTHR13194, 1 hit
PfamiView protein in Pfam
PF08547 CIA30, 1 hit
SUPFAMiSSF49785 SSF49785, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiCIA30_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: Q9Y375
Secondary accession number(s): Q9BVZ5
<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: May 30, 2000
Last sequence update: June 20, 2002
Last modified: October 16, 2019
This is version 158 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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