Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Gene

NDUFAF3

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

Functioni

Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).1 Publication

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
Gene namesi
Name:NDUFAF3
Synonyms:C3orf60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000178057.14
HGNCiHGNC:29918 NDUFAF3
MIMi612911 gene
neXtProtiNX_Q9BU61

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, Mitochondrion inner membrane, Nucleus

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_05849177G → R in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121918134Ensembl.1
Natural variantiVAR_058492122R → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121918135Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi25915
MalaCardsiNDUFAF3
MIMi252010 phenotype
OpenTargetsiENSG00000178057
Orphaneti2609 Isolated NADH-CoQ reductase deficiency
PharmGKBiPA164723795

Chemistry databases

ChEMBLiCHEMBL2363065

Polymorphism and mutation databases

BioMutaiNDUFAF3
DMDMi74733183

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002811541 – 184NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3Add BLAST184

Proteomic databases

EPDiQ9BU61
MaxQBiQ9BU61
PaxDbiQ9BU61
PeptideAtlasiQ9BU61
PRIDEiQ9BU61

PTM databases

iPTMnetiQ9BU61
PhosphoSitePlusiQ9BU61
SwissPalmiQ9BU61

Expressioni

Gene expression databases

BgeeiENSG00000178057
CleanExiHS_C3orf60
ExpressionAtlasiQ9BU61 baseline and differential
GenevisibleiQ9BU61 HS

Organism-specific databases

HPAiHPA035376
HPA035377

Interactioni

Subunit structurei

Interacts with NDUFAF4, NDUFS2 and NDUFS3.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117419, 39 interactors
IntActiQ9BU61, 36 interactors
MINTiQ9BU61
STRINGi9606.ENSP00000323076

Structurei

3D structure databases

ProteinModelPortaliQ9BU61
SMRiQ9BU61
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3363 Eukaryota
ENOG4111J7F LUCA
GeneTreeiENSGT00390000018312
HOGENOMiHOG000261143
InParanoidiQ9BU61
KOiK09008
OMAiMYIDSYS
OrthoDBiEOG091G0O8P
PhylomeDBiQ9BU61
TreeFamiTF321072

Family and domain databases

CDDicd05125 Mth938_2P1-like, 1 hit
Gene3Di3.40.1230.10, 1 hit
InterProiView protein in InterPro
IPR036748 MTH938-like_sf
IPR034095 NDUF3
IPR007523 NDUFAF3/AAMDC
PANTHERiPTHR21192 PTHR21192, 1 hit
PfamiView protein in Pfam
PF04430 DUF498, 1 hit
SUPFAMiSSF64076 SSF64076, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform a (identifier: Q9BU61-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MATALALRSL YRARPSLRCP PVELPWAPRR GHRLSPADDE LYQRTRISLL
60 70 80 90 100
QREAAQAMYI DSYNSRGFMI NGNRVLGPCA LLPHSVVQWN VGSHQDITED
110 120 130 140 150
SFSLFWLLEP RIEIVVVGTG DRTERLQSQV LQAMRQRGIA VEVQDTPNAC
160 170 180
ATFNFLCHEG RVTGAALIPP PGGTSLTSLG QAAQ
Length:184
Mass (Da):20,350
Last modified:June 1, 2001 - v1
Checksum:iFCFF7B0CB6ADBCD8
GO
Isoform b (identifier: Q9BU61-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Show »
Length:127
Mass (Da):13,842
Checksum:i4D795EDA0408C242
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05849177G → R in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121918134Ensembl.1
Natural variantiVAR_058492122R → P in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121918135Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0410861 – 57Missing in isoform b. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC002873 mRNA Translation: AAH02873.1
BQ652614 mRNA No translation available.
CCDSiCCDS2784.1 [Q9BU61-1]
CCDS2785.1 [Q9BU61-2]
RefSeqiNP_951032.1, NM_199069.1 [Q9BU61-1]
UniGeneiHs.31387

Genome annotation databases

EnsembliENST00000326912; ENSP00000323003; ENSG00000178057 [Q9BU61-2]
ENST00000326925; ENSP00000323076; ENSG00000178057 [Q9BU61-1]
ENST00000395458; ENSP00000378843; ENSG00000178057 [Q9BU61-2]
ENST00000451378; ENSP00000402465; ENSG00000178057 [Q9BU61-2]
GeneIDi25915
KEGGihsa:25915
UCSCiuc003cvn.4 human [Q9BU61-1]

Keywords - Coding sequence diversityi

Alternative splicing

Entry informationi

Entry nameiNDUF3_HUMAN
AccessioniPrimary (citable) accession number: Q9BU61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 134 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. Human chromosome 3
    Human chromosome 3: 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. 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health