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Q15070

- OXA1L_HUMAN

UniProt

Q15070 - OXA1L_HUMAN

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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

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 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ15070.
CleanExiHS_OXA1L.
ExpressionAtlasiQ15070. baseline and differential.
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

3D structure databases

ProteinModelPortaliQ15070.
SMRiQ15070. Positions 143-329.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00530000063506.
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

        10         20         30         40         50
MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPVAPCCCR
60 70 80 90 100
PHYLFLAASG PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA
110 120 130 140 150
DVVQTAAEQS FAELGLGSYT PVGLIQNLLE FMHVDLGLPW WGAIAACTVF
160 170 180 190 200
ARCLIFPLIV TGQREAARIH NHLPEIQKFS SRIREAKLAG DHIEYYKASS
210 220 230 240 250
EMALYQKKHG IKLYKPLILP VTQAPIFISF FIALREMANL PVPSLQTGGL
260 270 280 290 300
WWFQDLTVSD PIYILPLAVT ATMWAVLELG AETGVQSSDL QWMRNVIRMM
310 320 330 340 350
PLITLPITMH FPTAVFMYWL SSNLFSLVQV SCLRIPAVRT VLKIPQRVVH
360 370 380 390 400
DLDKLPPREG FLESFKKGWK NAEMTRQLRE REQRMRNQLE LAARGPLRQT
410 420 430
FTHNPLLQPG KDNPPNIPSS SSKPKSKYPW HDTLG
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

ProteinModelPortali Q15070.
SMRi Q15070. Positions 143-329.
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.
GeneTreei ENSGT00530000063506.
HOVERGENi HBG053388.
InParanoidi Q15070.
KOi K03217.
PhylomeDBi Q15070.

Miscellaneous databases

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

Gene expression databases

Bgeei Q15070.
CleanExi HS_OXA1L.
ExpressionAtlasi Q15070. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 125 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