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Q5TEU4

- NDUF5_HUMAN

UniProt

Q5TEU4 - NDUF5_HUMAN

Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5

Gene

NDUFAF5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.1 Publication

    GO - Molecular functioni

    1. methyltransferase activity Source: UniProtKB-KW

    GO - Biological processi

    1. mitochondrial respiratory chain complex I assembly Source: UniProtKB

    Keywords - Molecular functioni

    Methyltransferase, Transferase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
    Alternative name(s):
    Probable methyltransferase C20orf7, mitochondrial (EC:2.1.1.-)
    Gene namesi
    Name:NDUFAF5
    Synonyms:C20orf7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:15899. NDUFAF5.

    Subcellular locationi

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

    GO - Cellular componenti

    1. extrinsic component of mitochondrial inner membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    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 varianti229 – 2291L → P in MT-C1D. 1 Publication
    VAR_054119
    Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591L → F in LS. 1 Publication
    VAR_067956

    Keywords - Diseasei

    Disease mutation, Leigh syndrome

    Organism-specific databases

    MIMi252010. phenotype.
    256000. phenotype.
    Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
    PharmGKBiPA25780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3636MitochondrionSequence AnalysisAdd
    BLAST
    Chaini37 – 345309NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5PRO_0000307213Add
    BLAST

    Proteomic databases

    MaxQBiQ5TEU4.
    PaxDbiQ5TEU4.
    PRIDEiQ5TEU4.

    PTM databases

    PhosphoSiteiQ5TEU4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5TEU4.
    BgeeiQ5TEU4.
    CleanExiHS_C20orf7.
    GenevestigatoriQ5TEU4.

    Organism-specific databases

    HPAiHPA051184.

    Interactioni

    Protein-protein interaction databases

    BioGridi122554. 1 interaction.
    STRINGi9606.ENSP00000367346.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5TEU4.
    SMRiQ5TEU4. Positions 94-190.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the methyltransferase superfamily.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0500.
    HOGENOMiHOG000265011.
    HOVERGENiHBG107772.
    InParanoidiQ5TEU4.
    KOiK18162.
    OMAiEMEIPTV.
    OrthoDBiEOG7WHHB5.
    PhylomeDBiQ5TEU4.
    TreeFamiTF315222.

    Family and domain databases

    Gene3Di3.40.50.150. 1 hit.
    InterProiIPR013216. Methyltransf_11.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view]
    PfamiPF08241. Methyltransf_11. 1 hit.
    [Graphical view]
    SUPFAMiSSF53335. SSF53335. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5TEU4-1) [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

    MLRPAGLWRL CRRPWAARVP AENLGRREVT SGVSPRGSTS PRTLNIFDRD    50
    LKRKQKNWAA RQPEPTKFDY LKEEVGSRIA DRVYDIPRNF PLALDLGCGR 100
    GYIAQYLNKE TIGKFFQADI AENALKNSSE TEIPTVSVLA DEEFLPFKEN 150
    TFDLVVSSLS LHWVNDLPRA LEQIHYILKP DGVFIGAMFG GDTLYELRCS 200
    LQLAETEREG GFSPHISPFT AVNDLGHLLG RAGFNTLTVD TDEIQVNYPG 250
    MFELMEDLQG MGESNCAWNR KALLHRDTML AAAAVYREMY RNEDGSVPAT 300
    YQIYYMIGWK YHESQARPAE RGSATVSFGE LGKINNLMPP GKKSQ 345
    Length:345
    Mass (Da):38,918
    Last modified:December 21, 2004 - v1
    Checksum:i96E1D29B91980026
    GO
    Isoform 2 (identifier: Q5TEU4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         110-160: ETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS → LQLFHCRKLLESFSKLTLQKMLC

    Show »
    Length:317
    Mass (Da):36,076
    Checksum:iA55D8FDE885083AB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591L → F in LS. 1 Publication
    VAR_067956
    Natural varianti229 – 2291L → P in MT-C1D. 1 Publication
    VAR_054119
    Natural varianti337 – 3371L → F.
    Corresponds to variant rs6042368 [ dbSNP | Ensembl ].
    VAR_035376

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei110 – 16051ETIGK…VSSLS → LQLFHCRKLLESFSKLTLQK MLC in isoform 2. 1 PublicationVSP_028637Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025977 mRNA. Translation: BAB15305.1.
    AK289781 mRNA. Translation: BAF82470.1.
    AL161659, AL109657 Genomic DNA. Translation: CAI15136.1.
    AL161659, AL109657 Genomic DNA. Translation: CAI15137.1.
    AL109657, AL161659 Genomic DNA. Translation: CAI22985.1.
    AL109657, AL161659 Genomic DNA. Translation: CAI22986.1.
    CH471133 Genomic DNA. Translation: EAX10311.1.
    BC005984 mRNA. Translation: AAH05984.1.
    BC073158 mRNA. Translation: AAH73158.1.
    CCDSiCCDS13118.1. [Q5TEU4-1]
    CCDS33441.1. [Q5TEU4-2]
    RefSeqiNP_001034464.1. NM_001039375.2. [Q5TEU4-2]
    NP_077025.2. NM_024120.4. [Q5TEU4-1]
    UniGeneiHs.472165.

    Genome annotation databases

    EnsembliENST00000378106; ENSP00000367346; ENSG00000101247. [Q5TEU4-1]
    ENST00000463598; ENSP00000420497; ENSG00000101247. [Q5TEU4-2]
    GeneIDi79133.
    KEGGihsa:79133.
    UCSCiuc002wom.3. human. [Q5TEU4-1]
    uc002won.3. human. [Q5TEU4-2]

    Polymorphism databases

    DMDMi74762247.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025977 mRNA. Translation: BAB15305.1 .
    AK289781 mRNA. Translation: BAF82470.1 .
    AL161659 , AL109657 Genomic DNA. Translation: CAI15136.1 .
    AL161659 , AL109657 Genomic DNA. Translation: CAI15137.1 .
    AL109657 , AL161659 Genomic DNA. Translation: CAI22985.1 .
    AL109657 , AL161659 Genomic DNA. Translation: CAI22986.1 .
    CH471133 Genomic DNA. Translation: EAX10311.1 .
    BC005984 mRNA. Translation: AAH05984.1 .
    BC073158 mRNA. Translation: AAH73158.1 .
    CCDSi CCDS13118.1. [Q5TEU4-1 ]
    CCDS33441.1. [Q5TEU4-2 ]
    RefSeqi NP_001034464.1. NM_001039375.2. [Q5TEU4-2 ]
    NP_077025.2. NM_024120.4. [Q5TEU4-1 ]
    UniGenei Hs.472165.

    3D structure databases

    ProteinModelPortali Q5TEU4.
    SMRi Q5TEU4. Positions 94-190.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122554. 1 interaction.
    STRINGi 9606.ENSP00000367346.

    PTM databases

    PhosphoSitei Q5TEU4.

    Polymorphism databases

    DMDMi 74762247.

    Proteomic databases

    MaxQBi Q5TEU4.
    PaxDbi Q5TEU4.
    PRIDEi Q5TEU4.

    Protocols and materials databases

    DNASUi 79133.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378106 ; ENSP00000367346 ; ENSG00000101247 . [Q5TEU4-1 ]
    ENST00000463598 ; ENSP00000420497 ; ENSG00000101247 . [Q5TEU4-2 ]
    GeneIDi 79133.
    KEGGi hsa:79133.
    UCSCi uc002wom.3. human. [Q5TEU4-1 ]
    uc002won.3. human. [Q5TEU4-2 ]

    Organism-specific databases

    CTDi 79133.
    GeneCardsi GC20P013765.
    HGNCi HGNC:15899. NDUFAF5.
    HPAi HPA051184.
    MIMi 252010. phenotype.
    256000. phenotype.
    612360. gene.
    neXtProti NX_Q5TEU4.
    Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
    PharmGKBi PA25780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0500.
    HOGENOMi HOG000265011.
    HOVERGENi HBG107772.
    InParanoidi Q5TEU4.
    KOi K18162.
    OMAi EMEIPTV.
    OrthoDBi EOG7WHHB5.
    PhylomeDBi Q5TEU4.
    TreeFami TF315222.

    Miscellaneous databases

    GenomeRNAii 79133.
    NextBioi 67997.
    PROi Q5TEU4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5TEU4.
    Bgeei Q5TEU4.
    CleanExi HS_C20orf7.
    Genevestigatori Q5TEU4.

    Family and domain databases

    Gene3Di 3.40.50.150. 1 hit.
    InterProi IPR013216. Methyltransf_11.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view ]
    Pfami PF08241. Methyltransf_11. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53335. SSF53335. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1).
      Tissue: Brain.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 50-345 (ISOFORM 1).
      Tissue: Pancreas.
    5. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MT-C1D PRO-229.
    6. Cited for: VARIANT LS PHE-159.

    Entry informationi

    Entry nameiNDUF5_HUMAN
    AccessioniPrimary (citable) accession number: Q5TEU4
    Secondary accession number(s): A8K166, Q6GPH3, Q9H6F4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 91 of the entry and version 1 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 20
      Human chromosome 20: 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

    External Data

    Dasty 3