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Q330K2

- NDUF6_HUMAN

UniProt

Q330K2 - NDUF6_HUMAN

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Protein

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Gene

NDUFAF6

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. transferase activity Source: InterPro

GO - Biological processi

  1. biosynthetic process Source: InterPro
  2. mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:28625. NDUFAF6.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. mitochondrial inner membrane Source: UniProtKB
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991Q → R in MT-C1D. 1 Publication
VAR_047770

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi252010. phenotype.
Orphaneti255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA142672357.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4444MitochondrionSequence AnalysisAdd
BLAST
Chaini45 – 333289NADH dehydrogenase (ubiquinone) complex I, assembly factor 6PRO_0000291772Add
BLAST

Proteomic databases

MaxQBiQ330K2.
PaxDbiQ330K2.
PRIDEiQ330K2.

PTM databases

PhosphoSiteiQ330K2.

Expressioni

Gene expression databases

BgeeiQ330K2.
CleanExiHS_C8orf38.
ExpressionAtlasiQ330K2. baseline and differential.
GenevestigatoriQ330K2.

Organism-specific databases

HPAiHPA047148.
HPA050545.

Interactioni

Protein-protein interaction databases

BioGridi126481. 2 interactions.
STRINGi9606.ENSP00000379430.

Structurei

3D structure databases

ProteinModelPortaliQ330K2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF6 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1562.
GeneTreeiENSGT00510000048688.
HOGENOMiHOG000146031.
HOVERGENiHBG080309.
InParanoidiQ330K2.
KOiK18163.
OMAiRVDFDIF.
PhylomeDBiQ330K2.
TreeFamiTF300084.

Family and domain databases

Gene3Di1.10.600.10. 1 hit.
InterProiIPR002060. Squ/phyt_synthse.
IPR008949. Terpenoid_synth.
[Graphical view]
PfamiPF00494. SQS_PSY. 1 hit.
[Graphical view]
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. Align

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 BAG60807.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence EAW91734.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991Q → R in MT-C1D. 1 Publication
VAR_047770

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6565MAASA…CLELL → MPISISHSSWLVQ in isoform 2. 1 PublicationVSP_026230Add
BLAST
Alternative sequencei100 – 12021VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3. 1 PublicationVSP_026231Add
BLAST
Alternative sequencei121 – 333213Missing in isoform 3. 1 PublicationVSP_026232Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_689629.2. NM_152416.3. [Q330K2-1]
XP_005250846.1. XM_005250789.1.
UniGeneiHs.729144.

Genome annotation databases

EnsembliENST00000396124; ENSP00000379430; ENSG00000156170. [Q330K2-1]
ENST00000518258; ENSP00000428788; ENSG00000156170. [Q330K2-3]
ENST00000523337; ENSP00000429038; ENSG00000156170. [Q330K2-3]
GeneIDi137682.
KEGGihsa:137682.
UCSCiuc003yhi.3. human. [Q330K2-2]
uc003yhj.3. human. [Q330K2-1]

Polymorphism databases

DMDMi182676420.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_689629.2. NM_152416.3. [Q330K2-1 ]
XP_005250846.1. XM_005250789.1.
UniGenei Hs.729144.

3D structure databases

ProteinModelPortali Q330K2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126481. 2 interactions.
STRINGi 9606.ENSP00000379430.

PTM databases

PhosphoSitei Q330K2.

Polymorphism databases

DMDMi 182676420.

Proteomic databases

MaxQBi Q330K2.
PaxDbi Q330K2.
PRIDEi Q330K2.

Protocols and materials databases

DNASUi 137682.
Structural Biology Knowledgebase Search...

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 uc003yhi.3. human. [Q330K2-2 ]
uc003yhj.3. human. [Q330K2-1 ]

Organism-specific databases

CTDi 137682.
GeneCardsi GC08P095910.
HGNCi HGNC:28625. NDUFAF6.
HPAi HPA047148.
HPA050545.
MIMi 252010. phenotype.
612392. gene.
neXtProti NX_Q330K2.
Orphaneti 255241. Leigh syndrome with leukodystrophy.
PharmGKBi PA142672357.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1562.
GeneTreei ENSGT00510000048688.
HOGENOMi HOG000146031.
HOVERGENi HBG080309.
InParanoidi Q330K2.
KOi K18163.
OMAi RVDFDIF.
PhylomeDBi Q330K2.
TreeFami TF300084.

Miscellaneous databases

GenomeRNAii 137682.
NextBioi 83659.
PROi Q330K2.
SOURCEi Search...

Gene expression databases

Bgeei Q330K2.
CleanExi HS_C8orf38.
ExpressionAtlasi Q330K2. baseline and differential.
Genevestigatori Q330K2.

Family and domain databases

Gene3Di 1.10.600.10. 1 hit.
InterProi IPR002060. Squ/phyt_synthse.
IPR008949. Terpenoid_synth.
[Graphical view ]
Pfami PF00494. SQS_PSY. 1 hit.
[Graphical view ]
SUPFAMi SSF48576. SSF48576. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. 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.

Entry informationi

Entry nameiNDUF6_HUMAN
AccessioniPrimary (citable) accession number: Q330K2
Secondary accession number(s): A8MT28
, A8MWF0, B4DQ45, Q8N6U6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: April 8, 2008
Last modified: October 29, 2014
This is version 74 of the entry and version 2 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 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

External Data

Dasty 3