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Q330K2 (NDUF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Alternative name(s):
Putative phytoene synthase
Gene names
Name:NDUFAF6
Synonyms:C8orf38
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7

Subcellular location

Isoform 1: Mitochondrion inner membrane. Note: Peripherally localized on the matrix face of the mitochondrial inner membrane. Ref.7

Isoform 2: Cytoplasm. Nucleus Ref.7.

Involvement in disease

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities

Belongs to the NDUFAF6 family.

Sequence caution

The sequence BAG60807.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence EAW91734.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q330K2-1)

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.
Isoform 2 (identifier: Q330K2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAASAHGSVW...GTDHYCLELL → MPISISHSSWLVQ
Isoform 3 (identifier: Q330K2-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4444Mitochondrion Potential
Chain45 – 333289NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
PRO_0000291772

Natural variations

Alternative sequence1 – 6565MAASA…CLELL → MPISISHSSWLVQ in isoform 2.
VSP_026230
Alternative sequence100 – 12021VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3.
VSP_026231
Alternative sequence121 – 333213Missing in isoform 3.
VSP_026232
Natural variant991Q → R in MT-C1D. Ref.6 Ref.7
VAR_047770

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 8, 2008. Version 2.
Checksum: 1D3521A817F4B4BB

FASTA33338,176
        10         20         30         40         50         60 
MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY 

        70         80         90        100        110        120 
CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV KDSVSEKTIG LMRMQFWKKT 

       130        140        150        160        170        180 
VEDIYCDNPP HQPVAIELWK AVKRHNLTKR WLMKIVDERE KNLDDKAYRN IKELENYAEN 

       190        200        210        220        230        240 
TQSSLLYLTL EILGIKDLHA DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG 

       250        260        270        280        290        300 
VSQEDFLRRN QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK 

       310        320        330 
IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY 

« Hide

Isoform 2 [UniParc].

Checksum: 54EE09C910AE936B
Show »

FASTA28132,847
Isoform 3 [UniParc].

Checksum: 31887C9EDE668C41
Show »

FASTA12113,125

References

« Hide 'large scale' references
[1]"Cloning of a novel putative phytoene synthase."
Zheng H., Xie Y., Mao Y.
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 2).
Tissue: Brain.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-322 (ISOFORM 1).
[6]"A mitochondrial protein compendium elucidates complex I disease biology."
Pagliarini D.J., Calvo S.E., Chang B., Sheth S.A., Vafai S.B., Ong S.E., Walford G.A., Sugiana C., Boneh A., Chen W.K., Hill D.E., Vidal M., Evans J.G., Thorburn D.R., Carr S.A., Mootha V.K.
Cell 134:112-123(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT MT-C1D ARG-99.
[7]"Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1."
McKenzie M., Tucker E.J., Compton A.G., Lazarou M., George C., Thorburn D.R., Ryan M.T.
J. Mol. Biol. 414:413-426(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, FUNCTION, CHARACTERIZATION OF VARIANT MT-C1D ARG-99.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_689629.2. NM_152416.3.
XP_005250846.1. XM_005250789.1.
UniGeneHs.729144.

3D structure databases

ProteinModelPortalQ330K2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000379430.

PTM databases

PhosphoSiteQ330K2.

Polymorphism databases

DMDM182676420.

Proteomic databases

PaxDbQ330K2.
PRIDEQ330K2.

Protocols and materials databases

DNASU137682.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000396124; ENSP00000379430; ENSG00000156170. [Q330K2-1]
ENST00000518258; ENSP00000428788; ENSG00000156170. [Q330K2-3]
ENST00000523337; ENSP00000429038; ENSG00000156170. [Q330K2-3]
ENST00000542894; ENSP00000444515; ENSG00000156170. [Q330K2-2]
GeneID137682.
KEGGhsa:137682.
UCSCuc003yhi.3. human. [Q330K2-2]
uc003yhj.3. human. [Q330K2-1]

Organism-specific databases

CTD137682.
GeneCardsGC08P095910.
HGNCHGNC:28625. NDUFAF6.
HPAHPA047148.
HPA050545.
MIM252010. phenotype.
612392. gene.
neXtProtNX_Q330K2.
Orphanet255241. Leigh syndrome with leukodystrophy.
PharmGKBPA142672357.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1562.
HOGENOMHOG000146031.
HOVERGENHBG080309.
InParanoidQ330K2.
OMAALPYHAS.
PhylomeDBQ330K2.
TreeFamTF300084.

Gene expression databases

ArrayExpressQ330K2.
BgeeQ330K2.
CleanExHS_C8orf38.
GenevestigatorQ330K2.

Family and domain databases

Gene3D1.10.600.10. 1 hit.
InterProIPR002060. Squ/phyt_synthse.
IPR008949. Terpenoid_synth.
[Graphical view]
PfamPF00494. SQS_PSY. 1 hit.
[Graphical view]
SUPFAMSSF48576. SSF48576. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi137682.
NextBio83659.
PROQ330K2.
SOURCESearch...

Entry information

Entry nameNDUF6_HUMAN
AccessionPrimary (citable) accession number: Q330K2
Secondary accession number(s): A8MT28 expand/collapse secondary AC list , A8MWF0, B4DQ45, Q8N6U6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: April 8, 2008
Last modified: April 16, 2014
This is version 68 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM