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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Gene

NDUFAF4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Keywordsi

Molecular functionCalmodulin-binding

Enzyme and pathway databases

ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000123545.5
HGNCiHGNC:21034 NDUFAF4
MIMi611776 gene
neXtProtiNX_Q9P032

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04432965L → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs63751061EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi73K → A: Reduces interaction with calmodulin. Does not promote MMP-9 secretion. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi29078
MalaCardsiNDUFAF4
MIMi252010 phenotype
OpenTargetsiENSG00000123545
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA164723808

Chemistry databases

ChEMBLiCHEMBL2363065

Polymorphism and mutation databases

BioMutaiNDUFAF4
DMDMi30912745

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002209882 – 175NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4Add BLAST174

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1
Modified residuei35PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ9P032
MaxQBiQ9P032
PaxDbiQ9P032
PeptideAtlasiQ9P032
PRIDEiQ9P032
ProteomicsDBi83539
TopDownProteomicsiQ9P032

PTM databases

iPTMnetiQ9P032
PhosphoSitePlusiQ9P032

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

BgeeiENSG00000123545 Expressed in 223 organ(s), highest expression level in caudate nucleus
CleanExiHS_C6orf66
GenevisibleiQ9P032 HS

Organism-specific databases

HPAiHPA046560

Interactioni

Subunit structurei

Binds calmodulin. Interacts with NDUFAF3.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi118848, 50 interactors
IntActiQ9P032, 162 interactors
MINTiQ9P032
STRINGi9606.ENSP00000358272

Structurei

3D structure databases

ProteinModelPortaliQ9P032
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF4 family.Curated

Phylogenomic databases

eggNOGiKOG4481 Eukaryota
ENOG4111W8K LUCA
GeneTreeiENSGT00390000001627
HOGENOMiHOG000231584
InParanoidiQ9P032
KOiK18161
OMAiKFINDHQ
OrthoDBiEOG091G0YY3
PhylomeDBiQ9P032
TreeFamiTF323532

Family and domain databases

InterProiView protein in InterPro
IPR009622 NDUFAF4
PANTHERiPTHR13338 PTHR13338, 1 hit
PfamiView protein in Pfam
PF06784 UPF0240, 1 hit
ProDomiView 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]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04432965L → 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
CCDSiCCDS5037.1
RefSeqiNP_054884.1, NM_014165.3
UniGeneiHs.512144

Genome annotation databases

EnsembliENST00000316149; ENSP00000358272; ENSG00000123545
GeneIDi29078
KEGGihsa:29078
UCSCiuc003pow.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
CCDSiCCDS5037.1
RefSeqiNP_054884.1, NM_014165.3
UniGeneiHs.512144

3D structure databases

ProteinModelPortaliQ9P032
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118848, 50 interactors
IntActiQ9P032, 162 interactors
MINTiQ9P032
STRINGi9606.ENSP00000358272

Chemistry databases

ChEMBLiCHEMBL2363065

PTM databases

iPTMnetiQ9P032
PhosphoSitePlusiQ9P032

Polymorphism and mutation databases

BioMutaiNDUFAF4
DMDMi30912745

Proteomic databases

EPDiQ9P032
MaxQBiQ9P032
PaxDbiQ9P032
PeptideAtlasiQ9P032
PRIDEiQ9P032
ProteomicsDBi83539
TopDownProteomicsiQ9P032

Protocols and materials databases

DNASUi29078
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316149; ENSP00000358272; ENSG00000123545
GeneIDi29078
KEGGihsa:29078
UCSCiuc003pow.4 human

Organism-specific databases

CTDi29078
DisGeNETi29078
EuPathDBiHostDB:ENSG00000123545.5
GeneCardsiNDUFAF4
HGNCiHGNC:21034 NDUFAF4
HPAiHPA046560
MalaCardsiNDUFAF4
MIMi252010 phenotype
611776 gene
neXtProtiNX_Q9P032
OpenTargetsiENSG00000123545
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA164723808
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4481 Eukaryota
ENOG4111W8K LUCA
GeneTreeiENSGT00390000001627
HOGENOMiHOG000231584
InParanoidiQ9P032
KOiK18161
OMAiKFINDHQ
OrthoDBiEOG091G0YY3
PhylomeDBiQ9P032
TreeFamiTF323532

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiNDUFAF4 human
GenomeRNAii29078
PROiPR:Q9P032
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123545 Expressed in 223 organ(s), highest expression level in caudate nucleus
CleanExiHS_C6orf66
GenevisibleiQ9P032 HS

Family and domain databases

InterProiView protein in InterPro
IPR009622 NDUFAF4
PANTHERiPTHR13338 PTHR13338, 1 hit
PfamiView protein in Pfam
PF06784 UPF0240, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD339506 UPF0240, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUF4_HUMAN
AccessioniPrimary (citable) accession number: Q9P032
Secondary accession number(s): B2R4J5
Entry historyiIntegrated 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 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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