NDUFAF4

Functionⁱ

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.3 Publications

GO - Molecular functionⁱ

calmodulin binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

mitochondrial respiratory chain complex I assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 18179882

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Calmodulin-binding

Molecular function

Calmodulin-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6799198 Complex I biogenesis

Reactomeⁱ

R-HSA-6799198 Complex I biogenesis

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 Alternative name(s): Hormone-regulated proliferation-associated protein of 20 kDa
Gene namesⁱ	Name:NDUFAF4 Synonyms:C6orf66, HRPAP20 ORF Names:HSPC125, My013
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000123545.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21034 NDUFAF4
MIMⁱ	611776 gene
neXtProtⁱ	NX_Q9P032

Keywords - Cellular componentⁱ

Membrane, Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Mitochondrial complex I deficiency (MT-C1D)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	73	K → A: Reduces interaction with calmodulin. Does not promote MMP-9 secretion. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	29078
MalaCards human disease database More...MalaCardsⁱ	NDUFAF4
MIMⁱ	252010 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000123545
Orphanetⁱ	2609 Isolated complex I deficiency
PharmGKBⁱ	PA164723808

Chemistry databases

ChEMBLⁱ	CHEMBL2363065

ChEMBLⁱ

CHEMBL2363065

Polymorphism and mutation databases

BioMutaⁱ	NDUFAF4
DMDMⁱ	30912745

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		Removed1 Publication
ChainⁱPRO_0000220988	2 – 175	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4Add BLAST		174

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Lipidationⁱ	2	N-myristoyl glycine1 Publication		1
Modified residueⁱ	35	PhosphoserineCombined sources		1

Post-translational modificationⁱ

Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity).By similarity

Keywords - PTMⁱ

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDⁱ	Q9P032
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9P032
PaxDbⁱ	Q9P032
PeptideAtlas More...PeptideAtlasⁱ	Q9P032
PRIDEⁱ	Q9P032
ProteomicsDBⁱ	83539
TopDownProteomicsⁱ	Q9P032

PTM databases

iPTMnetⁱ	Q9P032
PhosphoSitePlusⁱ	Q9P032

Expressionⁱ

Inductionⁱ

Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression is also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as butyrate and retinoic acid.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000123545 Expressed in 223 organ(s), highest expression level in caudate nucleus
CleanExⁱ	HS_C6orf66
Genevisibleⁱ	Q9P032 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046560

HPAⁱ

HPA046560

Interactionⁱ

Subunit structureⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
NDUFAF3	Q9BU61	8	EBI-2606839,EBI-2114801
NDUFAF3	Q9BU61-2	8	EBI-2606839,EBI-10298649

GO - Molecular functionⁱ

calmodulin binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	118848, 50 interactors
IntActⁱ	Q9P032, 162 interactors
Molecular INTeraction database More...MINTⁱ	Q9P032
STRINGⁱ	9606.ENSP00000358272

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9P032
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the NDUFAF4 family.Curated

Phylogenomic databases

eggNOGⁱ	KOG4481 Eukaryota ENOG4111W8K LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000001627
HOGENOMⁱ	HOG000231584
InParanoidⁱ	Q9P032
KEGG Orthology (KO) More...KOⁱ	K18161
OMAⁱ	KFINDHQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0YY3
PhylomeDBⁱ	Q9P032
TreeFamⁱ	TF323532

Family and domain databases

InterProⁱ	View protein in InterPro IPR009622 NDUFAF4
PANTHERⁱ	PTHR13338 PTHR13338, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF06784 UPF0240, 1 hit
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD339506 UPF0240, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

Q9P032-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGALVIRGIR NFNLENRAER EISKMKPSVA PRHPSTNSLL REQISLYPEV 
        60         70         80         90        100
KGEIARKDEK LLSFLKDVYV DSKDPVSSLQ VKAAETCQEP KEFRLPKDHH 
       110        120        130        140        150
FDMINIKSIP KGKISIVEAL TLLNNHKLFP ETWTAEKIMQ EYQLEQKDVN 
       160        170 
SLLKYFVTFE VEIFPPEDKK AIRSK

Length:175

Mass (Da):20,266

Last modified:October 1, 2000 - v1

Checksum:ⁱB6445B0B4AA905D0

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_044329	65	L → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs63751061EnsemblClinVar.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF161474 mRNA Translation: AAF29089.1 AF060508 mRNA Translation: AAG43126.1 AK311850 mRNA Translation: BAG34792.1 AL159985 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48501.1 BC039464 mRNA Translation: AAH39464.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5037.1
NCBI Reference Sequences More...RefSeqⁱ	NP_054884.1, NM_014165.3
UniGeneⁱ	Hs.512144

Genome annotation databases

Ensemblⁱ	ENST00000316149; ENSP00000358272; ENSG00000123545
GeneIDⁱ	29078
KEGGⁱ	hsa:29078
UCSC genome browser More...UCSCⁱ	uc003pow.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9P032	Uncharacterized protein		PANPA		175	UniRef100_Q9P032
NADH:ubiquinone oxidoreductase complex assembly factor 4		GORGO		175

Protein	Similar proteins		Species	Score	Length	Source
Q9P032	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4		PONAB		175	UniRef90_Q9P032
Uncharacterized protein		PANPA		175
NADH:ubiquinone oxidoreductase complex assembly factor 4		GORGO		175
NADH dehydrogenase (Ubiquinone) 1 alpha subcomplex, assembly factor 4		PANTR		175
Uncharacterized protein		COLAP		175
+4

Protein	Similar proteins		Species	Score	Length	Source
Q9P032	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4		PONAB		175	UniRef50_Q9P032
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4		RAT		174
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4		MOUSE		173
Uncharacterized protein		PANPA		175
NADH:ubiquinone oxidoreductase complex assembly factor 4		GORGO		175
+97

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF161474 mRNA Translation: AAF29089.1 AF060508 mRNA Translation: AAG43126.1 AK311850 mRNA Translation: BAG34792.1 AL159985 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW48501.1 BC039464 mRNA Translation: AAH39464.1
CCDSⁱ	CCDS5037.1
RefSeqⁱ	NP_054884.1, NM_014165.3
UniGeneⁱ	Hs.512144

3D structure databases

ProteinModelPortalⁱ	Q9P032
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	118848, 50 interactors
IntActⁱ	Q9P032, 162 interactors
MINTⁱ	Q9P032
STRINGⁱ	9606.ENSP00000358272

Chemistry databases

ChEMBLⁱ	CHEMBL2363065

ChEMBLⁱ

CHEMBL2363065

PTM databases

iPTMnetⁱ	Q9P032
PhosphoSitePlusⁱ	Q9P032

Polymorphism and mutation databases

BioMutaⁱ	NDUFAF4
DMDMⁱ	30912745

Proteomic databases

EPDⁱ	Q9P032
MaxQBⁱ	Q9P032
PaxDbⁱ	Q9P032
PeptideAtlasⁱ	Q9P032
PRIDEⁱ	Q9P032
ProteomicsDBⁱ	83539
TopDownProteomicsⁱ	Q9P032

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	29078
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000316149; ENSP00000358272; ENSG00000123545
GeneIDⁱ	29078
KEGGⁱ	hsa:29078
UCSCⁱ	uc003pow.4 human

Organism-specific databases

CTDⁱ	29078
DisGeNETⁱ	29078
EuPathDBⁱ	HostDB:ENSG00000123545.5
GeneCardsⁱ	NDUFAF4
HGNCⁱ	HGNC:21034 NDUFAF4
HPAⁱ	HPA046560
MalaCardsⁱ	NDUFAF4
MIMⁱ	252010 phenotype 611776 gene
neXtProtⁱ	NX_Q9P032
OpenTargetsⁱ	ENSG00000123545
Orphanetⁱ	2609 Isolated complex I deficiency
PharmGKBⁱ	PA164723808
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4481 Eukaryota ENOG4111W8K LUCA
GeneTreeⁱ	ENSGT00390000001627
HOGENOMⁱ	HOG000231584
InParanoidⁱ	Q9P032
KOⁱ	K18161
OMAⁱ	KFINDHQ
OrthoDBⁱ	EOG091G0YY3
PhylomeDBⁱ	Q9P032
TreeFamⁱ	TF323532

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6799198 Complex I biogenesis

Reactomeⁱ

R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSⁱ	NDUFAF4 human
GenomeRNAiⁱ	29078
Protein Ontology More...PROⁱ	PR:Q9P032
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000123545 Expressed in 223 organ(s), highest expression level in caudate nucleus
CleanExⁱ	HS_C6orf66
Genevisibleⁱ	Q9P032 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR009622 NDUFAF4
PANTHERⁱ	PTHR13338 PTHR13338, 1 hit
Pfamⁱ	View protein in Pfam PF06784 UPF0240, 1 hit
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD339506 UPF0240, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NDUF4_HUMAN
Accessionⁱ	Q9P032Primary (citable) accession number: Q9P032 Secondary accession number(s): B2R4J5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 16, 2003
	Last sequence update:	October 1, 2000
	Last modified:	November 7, 2018
	This is version 130 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries
Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM

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UniProtKB - Q9P032 (NDUF4_HUMAN)

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NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Select a section on the left to see content.

<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

<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

Enzyme and pathway databases

<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

Organism-specific databases

<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

Mitochondrion

Other locations

Mitochondrion

Keywords - Cellular componenti

<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

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

<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

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ