UniProtKB - Q9P032 (NDUF4_HUMAN)
Protein
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Gene
NDUFAF4
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.4 Publications
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
GO - Biological processi
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
Keywordsi
Molecular function | Calmodulin-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9P032 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4Alternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21034, NDUFAF4 |
MIMi | 611776, gene |
neXtProti | NX_Q9P032 |
VEuPathDBi | HostDB:ENSG00000123545.5 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Other locations
- Membrane Curated; Lipid-anchor Curated
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrial membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15)2 Publications
The disease is caused by variants 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. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081426 | 3 | A → P in MC1DN15; results in altered complex I assembly. 1 PublicationCorresponds to variant dbSNP:rs1554197721EnsemblClinVar. | 1 | |
Natural variantiVAR_044329 | 65 | L → P in MC1DN15. 1 PublicationCorresponds to variant dbSNP:rs63751061EnsemblClinVar. | 1 |
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 variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 29078 |
MalaCardsi | NDUFAF4 |
MIMi | 618237, phenotype |
OpenTargetsi | ENSG00000123545 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA164723808 |
Miscellaneous databases
Pharosi | Q9P032, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2363065 |
DrugCentrali | Q9P032 |
Genetic variation 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, PhosphoproteinProteomic databases
EPDi | Q9P032 |
jPOSTi | Q9P032 |
MassIVEi | Q9P032 |
MaxQBi | Q9P032 |
PaxDbi | Q9P032 |
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 caudate nucleus and 235 other tissues |
Genevisiblei | Q9P032, HS |
Organism-specific databases
HPAi | ENSG00000123545, Low tissue specificity |
Interactioni
Subunit structurei
Binds calmodulin.
Interacts with NDUFAF3.
2 PublicationsBinary interactionsi
Hide detailsQ9P032
With | #Exp. | IntAct |
---|---|---|
GRN [P28799] | 3 | EBI-2606839,EBI-747754 |
NDUFAF3 [Q9BU61] | 10 | EBI-2606839,EBI-2114801 |
NDUFAF3 - isoform b [Q9BU61-2] | 8 | EBI-2606839,EBI-10298649 |
WFS1 [O76024] | 3 | EBI-2606839,EBI-720609 |
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 118848, 138 interactors |
IntActi | Q9P032, 51 interactors |
MINTi | Q9P032 |
STRINGi | 9606.ENSP00000358272 |
Chemistry databases
BindingDBi | Q9P032 |
Miscellaneous databases
RNActi | Q9P032, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the NDUFAF4 family.Curated
Phylogenomic databases
eggNOGi | KOG4481, Eukaryota |
GeneTreei | ENSGT00390000001627 |
HOGENOMi | CLU_054693_2_0_1 |
InParanoidi | Q9P032 |
OMAi | YVTSQDR |
OrthoDBi | 1395543at2759 |
PhylomeDBi | Q9P032 |
TreeFami | TF323532 |
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 |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9P032-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081426 | 3 | A → P in MC1DN15; results in altered complex I assembly. 1 PublicationCorresponds to variant dbSNP:rs1554197721EnsemblClinVar. | 1 | |
Natural variantiVAR_044329 | 65 | L → P in MC1DN15. 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 |
CCDSi | CCDS5037.1 |
RefSeqi | NP_054884.1, NM_014165.3 |
Genome annotation databases
Ensembli | ENST00000316149; ENSP00000358272; ENSG00000123545 |
GeneIDi | 29078 |
KEGGi | hsa:29078 |
UCSCi | uc003pow.4, human |
Similar proteinsi
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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 118848, 138 interactors |
IntActi | Q9P032, 51 interactors |
MINTi | Q9P032 |
STRINGi | 9606.ENSP00000358272 |
Chemistry databases
BindingDBi | Q9P032 |
ChEMBLi | CHEMBL2363065 |
DrugCentrali | Q9P032 |
PTM databases
iPTMneti | Q9P032 |
PhosphoSitePlusi | Q9P032 |
Genetic variation databases
BioMutai | NDUFAF4 |
DMDMi | 30912745 |
Proteomic databases
EPDi | Q9P032 |
jPOSTi | Q9P032 |
MassIVEi | Q9P032 |
MaxQBi | Q9P032 |
PaxDbi | Q9P032 |
PeptideAtlasi | Q9P032 |
PRIDEi | Q9P032 |
ProteomicsDBi | 83539 |
TopDownProteomicsi | Q9P032 |
Protocols and materials databases
Antibodypediai | 48392, 120 antibodies |
DNASUi | 29078 |
Genome annotation databases
Ensembli | ENST00000316149; ENSP00000358272; ENSG00000123545 |
GeneIDi | 29078 |
KEGGi | hsa:29078 |
UCSCi | uc003pow.4, human |
Organism-specific databases
CTDi | 29078 |
DisGeNETi | 29078 |
GeneCardsi | NDUFAF4 |
HGNCi | HGNC:21034, NDUFAF4 |
HPAi | ENSG00000123545, Low tissue specificity |
MalaCardsi | NDUFAF4 |
MIMi | 611776, gene 618237, phenotype |
neXtProti | NX_Q9P032 |
OpenTargetsi | ENSG00000123545 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA164723808 |
VEuPathDBi | HostDB:ENSG00000123545.5 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4481, Eukaryota |
GeneTreei | ENSGT00390000001627 |
HOGENOMi | CLU_054693_2_0_1 |
InParanoidi | Q9P032 |
OMAi | YVTSQDR |
OrthoDBi | 1395543at2759 |
PhylomeDBi | Q9P032 |
TreeFami | TF323532 |
Enzyme and pathway databases
PathwayCommonsi | Q9P032 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 29078, 110 hits in 993 CRISPR screens |
ChiTaRSi | NDUFAF4, human |
GenomeRNAii | 29078 |
Pharosi | Q9P032, Tclin |
PROi | PR:Q9P032 |
RNActi | Q9P032, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123545, Expressed in caudate nucleus and 235 other tissues |
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 |
ProtoNeti | Search... |
MobiDBi | 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: | April 7, 2021 | |
This is version 148 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
Reference proteomeDocuments
- 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 - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families