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Q7L592

- NDUF7_HUMAN

UniProt

Q7L592 - NDUF7_HUMAN

Protein

NADH dehydrogenase [ubiquinone] complex I, assembly factor 7

Gene

NDUFAF7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).1 Publication

    GO - Molecular functioni

    1. enzyme binding Source: UniProtKB
    2. methyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. methylation Source: GOC
    2. mitochondrial respiratory chain complex I assembly Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
    Alternative name(s):
    Protein midA homolog, mitochondrial
    Gene namesi
    Name:NDUFAF7
    Synonyms:C2orf56
    ORF Names:PRO1853
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:28816. NDUFAF7.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162379266.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4646MitochondrionSequence AnalysisAdd
    BLAST
    Chaini47 – 441395NADH dehydrogenase [ubiquinone] complex I, assembly factor 7PRO_0000315672Add
    BLAST

    Proteomic databases

    MaxQBiQ7L592.
    PaxDbiQ7L592.
    PRIDEiQ7L592.

    PTM databases

    PhosphoSiteiQ7L592.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7L592.
    BgeeiQ7L592.
    CleanExiHS_C2orf56.
    GenevestigatoriQ7L592.

    Organism-specific databases

    HPAiHPA045217.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with NDUFS2.1 Publication

    Protein-protein interaction databases

    BioGridi120676. 3 interactions.
    IntActiQ7L592. 4 interactions.
    STRINGi9606.ENSP00000002125.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7L592.
    SMRiQ7L592. Positions 51-385.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NDUFAF7 family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1565.
    HOGENOMiHOG000077514.
    HOVERGENiHBG108135.
    InParanoidiQ7L592.
    KOiK18164.
    OMAiYYVYRDM.
    PhylomeDBiQ7L592.
    TreeFamiTF314312.

    Family and domain databases

    InterProiIPR003788. MidA.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view]
    PANTHERiPTHR12049. PTHR12049. 1 hit.
    PfamiPF02636. Methyltransf_28. 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: Q7L592-1) [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

    MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK    50
    IKSTGPITVA EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL 100
    LGIWFISEWM ATGKSTAFQL VELGPGRGTL VGDILRVFTQ LGSVLKNCDI 150
    SVHLVEVSQK LSEIQALTLT KEKVPLERNA GSPVYMKGVT KSGIPISWYR 200
    DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI DPQVSDKLRF 250
    VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD 300
    YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS 350
    LGPIKQHTFL KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE 400
    RFNFFALLPH QRLQGGRYQR NARQSKPFAS VVAGFSELAW Q 441
    Length:441
    Mass (Da):49,238
    Last modified:July 5, 2004 - v1
    Checksum:i9F3D667CCE470623
    GO
    Isoform 2 (identifier: Q7L592-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         73-99: Missing.
         157-227: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:343
    Mass (Da):38,022
    Checksum:iAEFBDC33EAAA2AF6
    GO

    Sequence cautioni

    The sequence AAF71091.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH12374.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391P → A.
    Corresponds to variant rs2714473 [ dbSNP | Ensembl ].
    VAR_038274

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei73 – 9927Missing in isoform 2. 1 PublicationVSP_030606Add
    BLAST
    Alternative sequencei157 – 22771Missing in isoform 2. 1 PublicationVSP_030607Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX538031 mRNA. Translation: CAD97976.1.
    AC007390 Genomic DNA. Translation: AAY14816.1.
    CH471053 Genomic DNA. Translation: EAX00402.1.
    BC004548 mRNA. Translation: AAH04548.2.
    BC012374 mRNA. Translation: AAH12374.2. Different initiation.
    AF116671 mRNA. Translation: AAF71091.1. Different initiation.
    CCDSiCCDS1788.1. [Q7L592-1]
    CCDS42673.1. [Q7L592-2]
    RefSeqiNP_001077415.1. NM_001083946.1. [Q7L592-2]
    NP_653337.1. NM_144736.4. [Q7L592-1]
    UniGeneiHs.433466.

    Genome annotation databases

    EnsembliENST00000002125; ENSP00000002125; ENSG00000003509. [Q7L592-1]
    ENST00000336237; ENSP00000337431; ENSG00000003509. [Q7L592-2]
    GeneIDi55471.
    KEGGihsa:55471.
    UCSCiuc002rqa.4. human. [Q7L592-1]
    uc002rqc.4. human. [Q7L592-2]

    Polymorphism databases

    DMDMi74749891.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX538031 mRNA. Translation: CAD97976.1 .
    AC007390 Genomic DNA. Translation: AAY14816.1 .
    CH471053 Genomic DNA. Translation: EAX00402.1 .
    BC004548 mRNA. Translation: AAH04548.2 .
    BC012374 mRNA. Translation: AAH12374.2 . Different initiation.
    AF116671 mRNA. Translation: AAF71091.1 . Different initiation.
    CCDSi CCDS1788.1. [Q7L592-1 ]
    CCDS42673.1. [Q7L592-2 ]
    RefSeqi NP_001077415.1. NM_001083946.1. [Q7L592-2 ]
    NP_653337.1. NM_144736.4. [Q7L592-1 ]
    UniGenei Hs.433466.

    3D structure databases

    ProteinModelPortali Q7L592.
    SMRi Q7L592. Positions 51-385.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120676. 3 interactions.
    IntActi Q7L592. 4 interactions.
    STRINGi 9606.ENSP00000002125.

    PTM databases

    PhosphoSitei Q7L592.

    Polymorphism databases

    DMDMi 74749891.

    Proteomic databases

    MaxQBi Q7L592.
    PaxDbi Q7L592.
    PRIDEi Q7L592.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000002125 ; ENSP00000002125 ; ENSG00000003509 . [Q7L592-1 ]
    ENST00000336237 ; ENSP00000337431 ; ENSG00000003509 . [Q7L592-2 ]
    GeneIDi 55471.
    KEGGi hsa:55471.
    UCSCi uc002rqa.4. human. [Q7L592-1 ]
    uc002rqc.4. human. [Q7L592-2 ]

    Organism-specific databases

    CTDi 55471.
    GeneCardsi GC02P037460.
    HGNCi HGNC:28816. NDUFAF7.
    HPAi HPA045217.
    neXtProti NX_Q7L592.
    PharmGKBi PA162379266.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1565.
    HOGENOMi HOG000077514.
    HOVERGENi HBG108135.
    InParanoidi Q7L592.
    KOi K18164.
    OMAi YYVYRDM.
    PhylomeDBi Q7L592.
    TreeFami TF314312.

    Miscellaneous databases

    ChiTaRSi C2orf56. human.
    GenomeRNAii 55471.
    NextBioi 59858.

    Gene expression databases

    ArrayExpressi Q7L592.
    Bgeei Q7L592.
    CleanExi HS_C2orf56.
    Genevestigatori Q7L592.

    Family and domain databases

    InterProi IPR003788. MidA.
    IPR029063. SAM-dependent_MTases-like.
    [Graphical view ]
    PANTHERi PTHR12049. PTHR12049. 1 hit.
    Pfami PF02636. Methyltransf_28. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53335. SSF53335. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Endometrial adenocarcinoma.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [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 1).
      Tissue: Placenta.
    5. "Functional prediction of the coding sequences of 121 new genes deduced by analysis of cDNA clones from human fetal liver."
      Zhang C., Yu Y., Zhang S., Wei H., Zhou G., Ouyang S., Luo L., Bi J., Liu M., He F.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 208-441 (ISOFORM 1).
      Tissue: Fetal liver.
    6. Cited for: SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, INTERACTION WITH NDUFS2.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNDUF7_HUMAN
    AccessioniPrimary (citable) accession number: Q7L592
    Secondary accession number(s): Q7Z399, Q9P1G3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 90 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3