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Q15070

- OXA1L_HUMAN

UniProt

Q15070 - OXA1L_HUMAN

Protein

Mitochondrial inner membrane protein OXA1L

Gene

OXA1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 3 (14 Nov 2003)
      Previous versions | rss
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    Functioni

    Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria.2 Publications

    GO - Molecular functioni

    1. mitochondrial ribosome binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. aerobic respiration Source: UniProtKB
    2. mitochondrial proton-transporting ATP synthase complex assembly Source: UniProtKB
    3. mitochondrial respiratory chain complex I assembly Source: UniProtKB
    4. mitochondrial respiratory chain complex I biogenesis Source: UniProtKB
    5. negative regulation of ATPase activity Source: UniProtKB
    6. negative regulation of oxidoreductase activity Source: UniProtKB
    7. oxidation-reduction process Source: UniProtKB
    8. protein complex assembly Source: UniProtKB
    9. protein insertion into membrane Source: InterPro
    10. protein tetramerization Source: UniProtKB

    Protein family/group databases

    TCDBi2.A.9.1.2. the cytochrome oxidase biogenesis (oxa1) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial inner membrane protein OXA1L
    Alternative name(s):
    Hsa
    OXA1Hs
    Oxidase assembly 1-like protein
    Short name:
    OXA1-like protein
    Gene namesi
    Name:OXA1L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:8526. OXA1L.

    Subcellular locationi

    Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of mitochondrial membrane Source: UniProtKB
    2. mitochondrial membrane Source: UniProtKB
    3. mitochondrial respiratory chain Source: UniProtKB
    4. mitochondrion Source: HPA
    5. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi337 – 3371A → C: Increases weakly homooligomer formation in presence or absence of magnesium. 1 Publication
    Mutagenesisi372 – 3721A → C: Increases strongly homooligomer formation in presence of magnesium, but weakly in absence of magnesium. 1 Publication
    Mutagenesisi400 – 4001T → C: Increases homooligomer formation in presence or absence of magnesium. 1 Publication
    Mutagenesisi426 – 4261S → C: Increases weakly homooligomer formation in presence of magnesium, but strongly in absence of magnesium. 1 Publication

    Organism-specific databases

    PharmGKBiPA32854.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 435Mitochondrial inner membrane protein OXA1LPRO_0000020352
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Proteomic databases

    MaxQBiQ15070.
    PaxDbiQ15070.
    PRIDEiQ15070.

    PTM databases

    PhosphoSiteiQ15070.

    Expressioni

    Gene expression databases

    ArrayExpressiQ15070.
    BgeeiQ15070.
    CleanExiHS_OXA1L.
    GenevestigatoriQ15070.

    Organism-specific databases

    HPAiHPA003531.

    Interactioni

    Subunit structurei

    Monomer; predominantly monomeric at low salt concentrations. Homooligomer; predominantly homooligomeric at high salt concentrations. Homodimer. Homotetramer. Interacts with MRPL13, MRPL20, MRPL28, MRPL48, MRPL49 and MRPL51. Associates preferentially as a dimer with the large ribosomal subunit 39S of the mitochondrial ribosome.2 Publications

    Protein-protein interaction databases

    BioGridi111058. 18 interactions.
    IntActiQ15070. 3 interactions.
    MINTiMINT-3030857.
    STRINGi9606.ENSP00000285848.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 113113Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini135 – 1395Mitochondrial matrixSequence Analysis
    Topological domaini161 – 21252Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini234 – 26027Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini282 – 29918Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini321 – 435115Mitochondrial matrixSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei114 – 13421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei140 – 16021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei213 – 23321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei261 – 28121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei300 – 32021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the OXA1/ALB3/YidC family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0706.
    HOVERGENiHBG053388.
    InParanoidiQ15070.
    KOiK03217.
    PhylomeDBiQ15070.

    Family and domain databases

    InterProiIPR028055. Membr_insert_YidC/Oxa1_C.
    IPR001708. Membrane_insert_OXA1/ALB3/YidC.
    [Graphical view]
    PANTHERiPTHR12428. PTHR12428. 1 hit.
    PfamiPF02096. 60KD_IMP. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR03592. yidC_oxa1_cterm. 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: Q15070-1) [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

    MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPVAPCCCR    50
    PHYLFLAASG PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA 100
    DVVQTAAEQS FAELGLGSYT PVGLIQNLLE FMHVDLGLPW WGAIAACTVF 150
    ARCLIFPLIV TGQREAARIH NHLPEIQKFS SRIREAKLAG DHIEYYKASS 200
    EMALYQKKHG IKLYKPLILP VTQAPIFISF FIALREMANL PVPSLQTGGL 250
    WWFQDLTVSD PIYILPLAVT ATMWAVLELG AETGVQSSDL QWMRNVIRMM 300
    PLITLPITMH FPTAVFMYWL SSNLFSLVQV SCLRIPAVRT VLKIPQRVVH 350
    DLDKLPPREG FLESFKKGWK NAEMTRQLRE REQRMRNQLE LAARGPLRQT 400
    FTHNPLLQPG KDNPPNIPSS SSKPKSKYPW HDTLG 435
    Length:435
    Mass (Da):48,548
    Last modified:November 14, 2003 - v3
    Checksum:iCE959F07BCC56041
    GO
    Isoform 2 (identifier: Q15070-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MAMGLMCGRRELLRLLQSGRR → MRGTQ

    Note: No experimental confirmation available.

    Show »
    Length:419
    Mass (Da):46,691
    Checksum:i54AC7CD4BB1A241B
    GO
    Isoform 3 (identifier: Q15070-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         147-149: CTV → F
         224-265: APIFISFFIA...LTVSDPIYIL → VSKNISFLIS...VDYTWLSVVG
         266-435: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:263
    Mass (Da):28,803
    Checksum:i84069C19904FB7F5
    GO

    Sequence cautioni

    The sequence AAH01669.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAA05127.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441V → A.1 Publication
    Corresponds to variant rs8572 [ dbSNP | Ensembl ].
    VAR_014932
    Natural varianti91 – 911V → I.
    Corresponds to variant rs17619 [ dbSNP | Ensembl ].
    VAR_014933

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2121MAMGL…QSGRR → MRGTQ in isoform 2. 1 PublicationVSP_008942Add
    BLAST
    Alternative sequencei147 – 1493CTV → F in isoform 3. 1 PublicationVSP_008943
    Alternative sequencei224 – 26542APIFI…PIYIL → VSKNISFLISSSTHEISSLC FMCPRSPKKQVVVDYTWLSV VG in isoform 3. 1 PublicationVSP_008944Add
    BLAST
    Alternative sequencei266 – 435170Missing in isoform 3. 1 PublicationVSP_008945Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X80695 mRNA. Translation: CAA56712.1.
    AJ001981 Genomic DNA. Translation: CAA05127.1. Sequence problems.
    BX248001 mRNA. Translation: CAD62333.1.
    BX248295 mRNA. Translation: CAD62623.1.
    AK298249 mRNA. Translation: BAG60514.1.
    BC001669 mRNA. Translation: AAH01669.2. Different initiation.
    PIRiI38079.
    RefSeqiNP_005006.3. NM_005015.3.
    UniGeneiHs.151134.

    Genome annotation databases

    EnsembliENST00000358043; ENSP00000350740; ENSG00000155463.
    GeneIDi5018.
    KEGGihsa:5018.

    Polymorphism databases

    DMDMi38372882.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X80695 mRNA. Translation: CAA56712.1 .
    AJ001981 Genomic DNA. Translation: CAA05127.1 . Sequence problems.
    BX248001 mRNA. Translation: CAD62333.1 .
    BX248295 mRNA. Translation: CAD62623.1 .
    AK298249 mRNA. Translation: BAG60514.1 .
    BC001669 mRNA. Translation: AAH01669.2 . Different initiation.
    PIRi I38079.
    RefSeqi NP_005006.3. NM_005015.3.
    UniGenei Hs.151134.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111058. 18 interactions.
    IntActi Q15070. 3 interactions.
    MINTi MINT-3030857.
    STRINGi 9606.ENSP00000285848.

    Protein family/group databases

    TCDBi 2.A.9.1.2. the cytochrome oxidase biogenesis (oxa1) family.

    PTM databases

    PhosphoSitei Q15070.

    Polymorphism databases

    DMDMi 38372882.

    Proteomic databases

    MaxQBi Q15070.
    PaxDbi Q15070.
    PRIDEi Q15070.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358043 ; ENSP00000350740 ; ENSG00000155463 .
    GeneIDi 5018.
    KEGGi hsa:5018.

    Organism-specific databases

    CTDi 5018.
    GeneCardsi GC14P023235.
    H-InvDB HIX0011519.
    HGNCi HGNC:8526. OXA1L.
    HPAi HPA003531.
    MIMi 601066. gene.
    neXtProti NX_Q15070.
    PharmGKBi PA32854.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0706.
    HOVERGENi HBG053388.
    InParanoidi Q15070.
    KOi K03217.
    PhylomeDBi Q15070.

    Miscellaneous databases

    ChiTaRSi OXA1L. human.
    GenomeRNAii 5018.
    NextBioi 19320.
    PROi Q15070.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15070.
    Bgeei Q15070.
    CleanExi HS_OXA1L.
    Genevestigatori Q15070.

    Family and domain databases

    InterProi IPR028055. Membr_insert_YidC/Oxa1_C.
    IPR001708. Membrane_insert_OXA1/ALB3/YidC.
    [Graphical view ]
    PANTHERi PTHR12428. PTHR12428. 1 hit.
    Pfami PF02096. 60KD_IMP. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR03592. yidC_oxa1_cterm. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae."
      Bonnefoy N., Kermorgant M., Groudinsky O., Minet M., Slonimski P.P., Dujardin G.
      Proc. Natl. Acad. Sci. U.S.A. 91:11978-11982(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
      Tissue: Cervix adenocarcinoma.
    2. "Sequence and structure of the human OXA1L gene and its upstream elements."
      Roetig A., Parfait B., Heidet L., Dujardin G., Rustin P., Munnich A.
      Biochim. Biophys. Acta 1361:6-10(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-435 (ISOFORM 3), VARIANT ALA-44.
      Tissue: Fetal liver and T-cell.
    4. "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: Kidney.
    5. "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: Lung.
    6. "Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase."
      Stiburek L., Fornuskova D., Wenchich L., Pejznochova M., Hansikova H., Zeman J.
      J. Mol. Biol. 374:506-516(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    7. "Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes."
      Haque M.E., Elmore K.B., Tripathy A., Koc H., Koc E.C., Spremulli L.L.
      J. Biol. Chem. 285:28353-28362(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MRPL13; MRPL20; MRPL28; MRPL48; MRPL49 AND MRPL51, HOMOOLIGOMERIZATION, SUBUNIT, ASSOCIATION WITH MITOCHONDRIAL RIBOSOMES.
    8. "Identification of protein-protein and protein-ribosome interacting regions of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L."
      Haque M.E., Spremulli L.L., Fecko C.J.
      J. Biol. Chem. 285:34991-34998(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: HOMOOLIGOMERIZATION, SUBUNIT, ASSOCIATION WITH MITOCHONDRIAL RIBOSOMES, MUTAGENESIS OF ALA-337; ALA-372; THR-400 AND SER-426.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiOXA1L_HUMAN
    AccessioniPrimary (citable) accession number: Q15070
    Secondary accession number(s): B4DPA2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 14, 2003
    Last modified: October 1, 2014
    This is version 124 of the entry and version 3 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 14
      Human chromosome 14: 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