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Protein

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Gene

NDUFAF6

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

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 - Molecular functioni

GO - Biological processi

  • biosynthetic process Source: InterPro
  • 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) complex I, assembly factor 6
Alternative name(s):
Putative phytoene synthase
Gene namesi
Name:NDUFAF6
Synonyms:C8orf38
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000156170.12.
HGNCiHGNC:28625. NDUFAF6.

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

Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)3 Publications
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_07627269D → V in MT-C1D. 1 Publication1
Natural variantiVAR_07627376S → P in MT-C1D. 1 Publication1
Natural variantiVAR_04777099Q → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs137853184Ensembl.1
Natural variantiVAR_076274124I → T in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs201732170Ensembl.1
Natural variantiVAR_076275269H → D in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs768273248Ensembl.1
Natural variantiVAR_076276274R → G in MT-C1D. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi137682.
MalaCardsiNDUFAF6.
MIMi252010. phenotype.
OpenTargetsiENSG00000156170.
Orphaneti255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA142672357.

Polymorphism and mutation databases

BioMutaiNDUFAF6.
DMDMi182676420.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 44MitochondrionSequence analysisAdd BLAST44
ChainiPRO_000029177245 – 333NADH dehydrogenase (ubiquinone) complex I, assembly factor 6Add BLAST289

Proteomic databases

EPDiQ330K2.
MaxQBiQ330K2.
PaxDbiQ330K2.
PeptideAtlasiQ330K2.
PRIDEiQ330K2.

PTM databases

iPTMnetiQ330K2.
PhosphoSitePlusiQ330K2.

Expressioni

Gene expression databases

BgeeiENSG00000156170.
CleanExiHS_C8orf38.
ExpressionAtlasiQ330K2. baseline and differential.
GenevisibleiQ330K2. HS.

Organism-specific databases

HPAiHPA047148.
HPA050545.

Interactioni

Protein-protein interaction databases

BioGridi126481. 1 interactor.
IntActiQ330K2. 2 interactors.
STRINGi9606.ENSP00000379430.

Structurei

3D structure databases

ProteinModelPortaliQ330K2.
SMRiQ330K2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF6 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4411. Eukaryota.
COG1562. LUCA.
GeneTreeiENSGT00510000048688.
HOGENOMiHOG000146031.
HOVERGENiHBG080309.
InParanoidiQ330K2.
KOiK18163.
OMAiKIQQVDF.
OrthoDBiEOG091G0H0S.
PhylomeDBiQ330K2.
TreeFamiTF300084.

Family and domain databases

Gene3Di1.10.600.10. 1 hit.
InterProiView protein in InterPro
IPR008949. Isoprenoid_synthase_dom_sf.
IPR002060. Squ/phyt_synthse.
PfamiView protein in Pfam
PF00494. SQS_PSY. 1 hit.
SUPFAMiSSF48576. SSF48576. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q330K2-1) [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
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
Length:333
Mass (Da):38,176
Last modified:April 8, 2008 - v2
Checksum:i1D3521A817F4B4BB
GO
Isoform 2 (identifier: Q330K2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAASAHGSVW...GTDHYCLELL → MPISISHSSWLVQ

Show »
Length:281
Mass (Da):32,847
Checksum:i54EE09C910AE936B
GO
Isoform 3 (identifier: Q330K2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     100-120: VKDSVSEKTIGLMRMQFWKKT → AGLLLLLSCCTVCHWDLNTKHC
     121-333: Missing.

Show »
Length:121
Mass (Da):13,125
Checksum:i31887C9EDE668C41
GO

Sequence cautioni

The sequence BAG60807 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW91734 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07627269D → V in MT-C1D. 1 Publication1
Natural variantiVAR_07627376S → P in MT-C1D. 1 Publication1
Natural variantiVAR_04777099Q → R in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs137853184Ensembl.1
Natural variantiVAR_076274124I → T in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs201732170Ensembl.1
Natural variantiVAR_076275269H → D in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs768273248Ensembl.1
Natural variantiVAR_076276274R → G in MT-C1D. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0262301 – 65MAASA…CLELL → MPISISHSSWLVQ in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_026231100 – 120VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_026232121 – 333Missing in isoform 3. 1 PublicationAdd BLAST213

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.
CCDSiCCDS6266.2. [Q330K2-1]
RefSeqiNP_001317511.1. NM_001330582.1.
NP_689629.2. NM_152416.3. [Q330K2-1]
XP_011515135.1. XM_011516833.2. [Q330K2-2]
XP_011515136.1. XM_011516834.2. [Q330K2-2]
XP_011515137.1. XM_011516835.2. [Q330K2-2]
XP_011515138.1. XM_011516836.2. [Q330K2-2]
XP_011515139.1. XM_011516837.2. [Q330K2-2]
XP_011515140.1. XM_011516838.2. [Q330K2-2]
XP_011515141.1. XM_011516839.2. [Q330K2-2]
XP_011515142.1. XM_011516840.2. [Q330K2-2]
XP_011515143.1. XM_011516841.2. [Q330K2-2]
XP_011515144.1. XM_011516842.2. [Q330K2-2]
XP_016868516.1. XM_017013027.1. [Q330K2-2]
XP_016868517.1. XM_017013028.1. [Q330K2-2]
XP_016868518.1. XM_017013029.1. [Q330K2-2]
XP_016868519.1. XM_017013030.1. [Q330K2-2]
XP_016868520.1. XM_017013031.1.
XP_016868521.1. XM_017013032.1.
XP_016868522.1. XM_017013033.1.
UniGeneiHs.729144.

Genome annotation databases

EnsembliENST00000396124; ENSP00000379430; ENSG00000156170. [Q330K2-1]
ENST00000518258; ENSP00000428788; ENSG00000156170. [Q330K2-3]
ENST00000523337; ENSP00000429038; ENSG00000156170. [Q330K2-3]
GeneIDi137682.
KEGGihsa:137682.
UCSCiuc003yhj.4. human. [Q330K2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNDUF6_HUMAN
AccessioniPrimary (citable) accession number: Q330K2
Secondary accession number(s): A8MT28
, A8MWF0, B4DQ45, Q8N6U6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: April 8, 2008
Last modified: November 22, 2017
This is version 97 of the entry and version 2 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 8
    Human chromosome 8: 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
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries