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Q330K2

- NDUF6_HUMAN

UniProt

Q330K2 - NDUF6_HUMAN

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
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    • History
      Entry version 73 (01 Oct 2014)
      Sequence version 2 (08 Apr 2008)
      Previous versions | rss
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    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

    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-SubCell

    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

    ArrayExpressiQ330K2.
    BgeeiQ330K2.
    CleanExiHS_C8orf38.
    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.
    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

    MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS    50
    GPGAWGTDHY CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV 100
    KDSVSEKTIG LMRMQFWKKT VEDIYCDNPP HQPVAIELWK AVKRHNLTKR 150
    WLMKIVDERE KNLDDKAYRN IKELENYAEN TQSSLLYLTL EILGIKDLHA 200
    DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG VSQEDFLRRN 250
    QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK 300
    IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY 333
    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.
    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

    ArrayExpressi Q330K2.
    Bgeei Q330K2.
    CleanExi HS_C8orf38.
    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

    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 1, 2014
    This is version 73 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