UniProtKB - Q330K2 (NDUF6_HUMAN)
Protein
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Gene
NDUFAF6
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.2 Publications
GO - Biological processi
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q330K2 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6Alternative name(s): Putative phytoene synthase |
Gene namesi | Name:NDUFAF6 Synonyms:C8orf38 |
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
EuPathDBi | HostDB:ENSG00000156170.12 |
HGNCi | HGNC:28625, NDUFAF6 |
MIMi | 612392, gene |
neXtProti | NX_Q330K2 |
Subcellular locationi
Mitochondrion
Note: Peripherally localized on the matrix face of the mitochondrial inner membrane.
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrion Source: GO_Central
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane, NucleusPathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17)3 Publications
The disease is caused by mutations 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. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076272 | 69 | D → V in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519085EnsemblClinVar. | 1 | |
Natural variantiVAR_076273 | 76 | S → P in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519084EnsemblClinVar. | 1 | |
Natural variantiVAR_047770 | 99 | Q → R in MC1DN17. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar. | 1 | |
Natural variantiVAR_076274 | 124 | I → T in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar. | 1 | |
Natural variantiVAR_076275 | 269 | H → D in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar. | 1 | |
Natural variantiVAR_076276 | 274 | R → G in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519086EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 137682 |
MalaCardsi | NDUFAF6 |
MIMi | 618239, phenotype |
OpenTargetsi | ENSG00000156170 |
Orphaneti | 255241, Leigh syndrome with leukodystrophy 3337, Primary Fanconi renotubular syndrome |
PharmGKBi | PA142672357 |
Miscellaneous databases
Pharosi | Q330K2, Tbio |
Polymorphism and mutation databases
BioMutai | NDUFAF6 |
DMDMi | 182676420 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 44 | MitochondrionSequence analysisAdd BLAST | 44 | |
ChainiPRO_0000291772 | 45 – 333 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 6Add BLAST | 289 |
Proteomic databases
EPDi | Q330K2 |
jPOSTi | Q330K2 |
MassIVEi | Q330K2 |
MaxQBi | Q330K2 |
PaxDbi | Q330K2 |
PeptideAtlasi | Q330K2 |
PRIDEi | Q330K2 |
ProteomicsDBi | 61636 [Q330K2-1] 61637 [Q330K2-2] 61638 [Q330K2-3] |
PTM databases
iPTMneti | Q330K2 |
PhosphoSitePlusi | Q330K2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000156170, Expressed in quadriceps femoris and 202 other tissues |
ExpressionAtlasi | Q330K2, baseline and differential |
Genevisiblei | Q330K2, HS |
Organism-specific databases
HPAi | ENSG00000156170, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsIsoform 3 [Q330K2-3]
With | #Exp. | IntAct |
---|---|---|
GUCD1 - isoform 2 [Q96NT3-2] | 3 | EBI-12957691,EBI-11978177 |
OTX1 [P32242] | 3 | EBI-12957691,EBI-740446 |
Protein-protein interaction databases
BioGRIDi | 126481, 3 interactors |
IntActi | Q330K2, 3 interactors |
STRINGi | 9606.ENSP00000379430 |
Miscellaneous databases
RNActi | Q330K2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the NDUFAF6 family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG4411, Eukaryota |
GeneTreei | ENSGT00510000048688 |
HOGENOMi | CLU_037269_6_0_1 |
InParanoidi | Q330K2 |
OMAi | KIQQVDF |
OrthoDBi | 616989at2759 |
PhylomeDBi | Q330K2 |
TreeFami | TF300084 |
Family and domain databases
Gene3Di | 1.10.600.10, 1 hit |
InterProi | View protein in InterPro IPR008949, Isoprenoid_synthase_dom_sf |
SUPFAMi | SSF48576, SSF48576, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q330K2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS
60 70 80 90 100
GPGAWGTDHY CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV
110 120 130 140 150
KDSVSEKTIG LMRMQFWKKT VEDIYCDNPP HQPVAIELWK AVKRHNLTKR
160 170 180 190 200
WLMKIVDERE KNLDDKAYRN IKELENYAEN TQSSLLYLTL EILGIKDLHA
210 220 230 240 250
DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG VSQEDFLRRN
260 270 280 290 300
QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK
310 320 330
IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B6P0 | A0A075B6P0_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 241 | Annotation score: | ||
E5RFN5 | E5RFN5_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 133 | Annotation score: | ||
E5RGD6 | E5RGD6_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 102 | Annotation score: | ||
E5RHX9 | E5RHX9_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 95 | Annotation score: | ||
H0YBT9 | H0YBT9_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 142 | Annotation score: | ||
H0YB46 | H0YB46_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 93 | Annotation score: | ||
H0YBQ9 | H0YBQ9_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 97 | Annotation score: | ||
H0YC61 | H0YC61_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 102 | Annotation score: | ||
H7C250 | H7C250_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 82 | Annotation score: | ||
H0YB05 | H0YB05_HUMAN | NADH dehydrogenase (ubiquinone) com... | NDUFAF6 | 58 | Annotation score: |
Sequence cautioni
The sequence BAG60807 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW91734 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076272 | 69 | D → V in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519085EnsemblClinVar. | 1 | |
Natural variantiVAR_076273 | 76 | S → P in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519084EnsemblClinVar. | 1 | |
Natural variantiVAR_047770 | 99 | Q → R in MC1DN17. 2 PublicationsCorresponds to variant dbSNP:rs137853184EnsemblClinVar. | 1 | |
Natural variantiVAR_076274 | 124 | I → T in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs201732170EnsemblClinVar. | 1 | |
Natural variantiVAR_076275 | 269 | H → D in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs768273248EnsemblClinVar. | 1 | |
Natural variantiVAR_076276 | 274 | R → G in MC1DN17. 1 PublicationCorresponds to variant dbSNP:rs1057519086EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026230 | 1 – 65 | MAASA…CLELL → MPISISHSSWLVQ in isoform 2. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_026231 | 100 – 120 | VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_026232 | 121 – 333 | Missing in isoform 3. 1 PublicationAdd BLAST | 213 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY444560 mRNA Translation: AAS68536.1 AC087752 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91734.1 Sequence problems. BC028166 mRNA Translation: AAH28166.1 AK298631 mRNA Translation: BAG60807.1 Different initiation. |
CCDSi | CCDS6266.2 [Q330K2-1] |
RefSeqi | NP_001317511.1, NM_001330582.1 NP_689629.2, NM_152416.3 [Q330K2-1] XP_011515135.1, XM_011516833.2 XP_011515136.1, XM_011516834.2 XP_011515137.1, XM_011516835.2 XP_011515138.1, XM_011516836.2 XP_011515139.1, XM_011516837.2 XP_011515140.1, XM_011516838.2 XP_011515141.1, XM_011516839.2 XP_011515142.1, XM_011516840.2 XP_011515143.1, XM_011516841.2 XP_011515144.1, XM_011516842.2 XP_016868516.1, XM_017013027.1 XP_016868517.1, XM_017013028.1 XP_016868518.1, XM_017013029.1 XP_016868519.1, XM_017013030.1 XP_016868520.1, XM_017013031.1 XP_016868521.1, XM_017013032.1 XP_016868522.1, XM_017013033.1 |
Genome annotation databases
Ensembli | ENST00000396124; ENSP00000379430; ENSG00000156170 [Q330K2-1] ENST00000518258; ENSP00000428788; ENSG00000156170 [Q330K2-3] ENST00000523337; ENSP00000429038; ENSG00000156170 [Q330K2-3] |
GeneIDi | 137682 |
KEGGi | hsa:137682 |
UCSCi | uc003yhj.4, human [Q330K2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY444560 mRNA Translation: AAS68536.1 AC087752 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91734.1 Sequence problems. BC028166 mRNA Translation: AAH28166.1 AK298631 mRNA Translation: BAG60807.1 Different initiation. |
CCDSi | CCDS6266.2 [Q330K2-1] |
RefSeqi | NP_001317511.1, NM_001330582.1 NP_689629.2, NM_152416.3 [Q330K2-1] XP_011515135.1, XM_011516833.2 XP_011515136.1, XM_011516834.2 XP_011515137.1, XM_011516835.2 XP_011515138.1, XM_011516836.2 XP_011515139.1, XM_011516837.2 XP_011515140.1, XM_011516838.2 XP_011515141.1, XM_011516839.2 XP_011515142.1, XM_011516840.2 XP_011515143.1, XM_011516841.2 XP_011515144.1, XM_011516842.2 XP_016868516.1, XM_017013027.1 XP_016868517.1, XM_017013028.1 XP_016868518.1, XM_017013029.1 XP_016868519.1, XM_017013030.1 XP_016868520.1, XM_017013031.1 XP_016868521.1, XM_017013032.1 XP_016868522.1, XM_017013033.1 |
3D structure databases
SMRi | Q330K2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126481, 3 interactors |
IntActi | Q330K2, 3 interactors |
STRINGi | 9606.ENSP00000379430 |
PTM databases
iPTMneti | Q330K2 |
PhosphoSitePlusi | Q330K2 |
Polymorphism and mutation databases
BioMutai | NDUFAF6 |
DMDMi | 182676420 |
Proteomic databases
EPDi | Q330K2 |
jPOSTi | Q330K2 |
MassIVEi | Q330K2 |
MaxQBi | Q330K2 |
PaxDbi | Q330K2 |
PeptideAtlasi | Q330K2 |
PRIDEi | Q330K2 |
ProteomicsDBi | 61636 [Q330K2-1] 61637 [Q330K2-2] 61638 [Q330K2-3] |
Protocols and materials databases
Antibodypediai | 63909, 17 antibodies |
DNASUi | 137682 |
Genome annotation databases
Ensembli | ENST00000396124; ENSP00000379430; ENSG00000156170 [Q330K2-1] ENST00000518258; ENSP00000428788; ENSG00000156170 [Q330K2-3] ENST00000523337; ENSP00000429038; ENSG00000156170 [Q330K2-3] |
GeneIDi | 137682 |
KEGGi | hsa:137682 |
UCSCi | uc003yhj.4, human [Q330K2-1] |
Organism-specific databases
CTDi | 137682 |
DisGeNETi | 137682 |
EuPathDBi | HostDB:ENSG00000156170.12 |
GeneCardsi | NDUFAF6 |
HGNCi | HGNC:28625, NDUFAF6 |
HPAi | ENSG00000156170, Low tissue specificity |
MalaCardsi | NDUFAF6 |
MIMi | 612392, gene 618239, phenotype |
neXtProti | NX_Q330K2 |
OpenTargetsi | ENSG00000156170 |
Orphaneti | 255241, Leigh syndrome with leukodystrophy 3337, Primary Fanconi renotubular syndrome |
PharmGKBi | PA142672357 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4411, Eukaryota |
GeneTreei | ENSGT00510000048688 |
HOGENOMi | CLU_037269_6_0_1 |
InParanoidi | Q330K2 |
OMAi | KIQQVDF |
OrthoDBi | 616989at2759 |
PhylomeDBi | Q330K2 |
TreeFami | TF300084 |
Enzyme and pathway databases
PathwayCommonsi | Q330K2 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 137682, 57 hits in 848 CRISPR screens |
ChiTaRSi | NDUFAF6, human |
GenomeRNAii | 137682 |
Pharosi | Q330K2, Tbio |
PROi | PR:Q330K2 |
RNActi | Q330K2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000156170, Expressed in quadriceps femoris and 202 other tissues |
ExpressionAtlasi | Q330K2, baseline and differential |
Genevisiblei | Q330K2, HS |
Family and domain databases
Gene3Di | 1.10.600.10, 1 hit |
InterProi | View protein in InterPro IPR008949, Isoprenoid_synthase_dom_sf |
SUPFAMi | SSF48576, SSF48576, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUF6_HUMAN | |
Accessioni | Q330K2Primary (citable) accession number: Q330K2 Secondary accession number(s): A8MT28 Q8N6U6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | April 8, 2008 | |
Last modified: | December 2, 2020 | |
This is version 118 of the entry and version 2 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 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 - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations