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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Gene

NDUFAF3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

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
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29918. NDUFAF3.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: UniProtKB
  • nucleus Source: LIFEdb
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771G → R in MT-C1D. 1 Publication
VAR_058491
Natural varianti122 – 1221R → P in MT-C1D. 1 Publication
VAR_058492

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiNDUFAF3.
MIMi252010. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA164723795.

Chemistry

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFAF3.
DMDMi74733183.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 184184NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3PRO_0000281154Add
BLAST

Proteomic databases

EPDiQ9BU61.
MaxQBiQ9BU61.
PaxDbiQ9BU61.
PRIDEiQ9BU61.

PTM databases

PhosphoSiteiQ9BU61.
SwissPalmiQ9BU61.

Expressioni

Gene expression databases

BgeeiQ9BU61.
CleanExiHS_C3orf60.
ExpressionAtlasiQ9BU61. baseline and differential.
GenevisibleiQ9BU61. HS.

Organism-specific databases

HPAiHPA035377.

Interactioni

Subunit structurei

Interacts with NDUFAF4, NDUFS2 and NDUFS3.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NDUFAF4Q9P0325EBI-10298649,EBI-2606839
RBCK1Q9BYM83EBI-10298649,EBI-2340624
RELQ048643EBI-10298649,EBI-307352
SNRPAP090123EBI-2114801,EBI-607085

Protein-protein interaction databases

BioGridi117419. 30 interactions.
IntActiQ9BU61. 24 interactions.
STRINGi9606.ENSP00000323076.

Structurei

3D structure databases

ProteinModelPortaliQ9BU61.
SMRiQ9BU61. Positions 41-171.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3363. Eukaryota.
ENOG4111J7F. LUCA.
GeneTreeiENSGT00390000018312.
HOGENOMiHOG000261143.
InParanoidiQ9BU61.
KOiK09008.
OMAiSKAYDHD.
OrthoDBiEOG7VHT09.
PhylomeDBiQ9BU61.
TreeFamiTF321072.

Family and domain databases

Gene3Di3.40.1230.10. 1 hit.
InterProiIPR007523. NDUFAF3/AAMDC.
[Graphical view]
PANTHERiPTHR21192. PTHR21192. 1 hit.
PfamiPF04430. DUF498. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771G → R in MT-C1D. 1 Publication
VAR_058491
Natural varianti122 – 1221R → P in MT-C1D. 1 Publication
VAR_058492

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5757Missing in isoform b. 1 PublicationVSP_041086Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9BU61.
SMRiQ9BU61. Positions 41-171.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117419. 30 interactions.
IntActiQ9BU61. 24 interactions.
STRINGi9606.ENSP00000323076.

Chemistry

ChEMBLiCHEMBL2363065.

PTM databases

PhosphoSiteiQ9BU61.
SwissPalmiQ9BU61.

Polymorphism and mutation databases

BioMutaiNDUFAF3.
DMDMi74733183.

Proteomic databases

EPDiQ9BU61.
MaxQBiQ9BU61.
PaxDbiQ9BU61.
PRIDEiQ9BU61.

Protocols and materials databases

DNASUi25915.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi25915.
GeneCardsiNDUFAF3.
HGNCiHGNC:29918. NDUFAF3.
HPAiHPA035377.
MalaCardsiNDUFAF3.
MIMi252010. phenotype.
612911. gene.
neXtProtiNX_Q9BU61.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA164723795.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3363. Eukaryota.
ENOG4111J7F. LUCA.
GeneTreeiENSGT00390000018312.
HOGENOMiHOG000261143.
InParanoidiQ9BU61.
KOiK09008.
OMAiSKAYDHD.
OrthoDBiEOG7VHT09.
PhylomeDBiQ9BU61.
TreeFamiTF321072.

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiNDUFAF3. human.
GeneWikiiC3orf60.
GenomeRNAii25915.
NextBioi47421.
PROiQ9BU61.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BU61.
CleanExiHS_C3orf60.
ExpressionAtlasiQ9BU61. baseline and differential.
GenevisibleiQ9BU61. HS.

Family and domain databases

Gene3Di3.40.1230.10. 1 hit.
InterProiIPR007523. NDUFAF3/AAMDC.
[Graphical view]
PANTHERiPTHR21192. PTHR21192. 1 hit.
PfamiPF04430. DUF498. 1 hit.
[Graphical view]
SUPFAMiSSF64076. SSF64076. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
    Tissue: Lung and Testis.
  2. "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease."
    Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O., Shohat M., Huynen M.A., Smeitink J.A.M., van den Heuvel L.P., Nijtmans L.G.
    Am. J. Hum. Genet. 84:718-727(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NDUFAF4; NDUFS2 AND NDUFS3, SUBCELLULAR LOCATION, VARIANTS MT-C1D ARG-77 AND PRO-122.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNDUF3_HUMAN
AccessioniPrimary (citable) accession number: Q9BU61
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: June 1, 2001
Last modified: May 11, 2016
This is version 118 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.