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Q15070 (OXA1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial inner membrane protein OXA1L
Alternative name(s):
Hsa
OXA1Hs
Oxidase assembly 1-like protein
Short name=OXA1-like protein
Gene names
Name:OXA1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length435 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.6

Subunit structure

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. Ref.7 Ref.8

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.6.

Sequence similarities

Belongs to the OXA1/ALB3/YidC family.

Sequence caution

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.

Ontologies

Keywords
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransit peptide
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaerobic respiration

Inferred from mutant phenotype Ref.1. Source: UniProtKB

mitochondrial proton-transporting ATP synthase complex assembly

Inferred from mutant phenotype Ref.6. Source: UniProtKB

mitochondrial respiratory chain complex I assembly

Inferred from mutant phenotype Ref.6. Source: UniProtKB

mitochondrial respiratory chain complex I biogenesis

Inferred from mutant phenotype Ref.7. Source: UniProtKB

negative regulation of ATPase activity

Inferred from mutant phenotype Ref.6. Source: UniProtKB

negative regulation of oxidoreductase activity

Inferred from mutant phenotype Ref.6. Source: UniProtKB

oxidation-reduction process

Non-traceable author statement Ref.2. Source: UniProtKB

protein complex assembly

Non-traceable author statement Ref.2. Source: UniProtKB

protein insertion into membrane

Inferred from electronic annotation. Source: InterPro

protein tetramerization

Inferred from direct assay Ref.7Ref.8. Source: UniProtKB

   Cellular_componentintegral component of mitochondrial membrane

Inferred from direct assay Ref.6. Source: UniProtKB

mitochondrial membrane

Inferred from direct assay Ref.7. Source: UniProtKB

mitochondrial respiratory chain

Non-traceable author statement Ref.2. Source: UniProtKB

mitochondrion

Inferred from direct assay. Source: HPA

protein complex

Inferred from direct assay Ref.6. Source: UniProtKB

   Molecular_functionmitochondrial ribosome binding

Inferred from direct assay Ref.8. Source: UniProtKB

protein homodimerization activity

Inferred from direct assay Ref.7Ref.8. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15070-1)

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.
Isoform 2 (identifier: Q15070-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MAMGLMCGRRELLRLLQSGRR → MRGTQ
Note: No experimental confirmation available.
Isoform 3 (identifier: Q15070-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 435Mitochondrial inner membrane protein OXA1LPRO_0000020352

Regions

Topological domain1 – 113113Mitochondrial intermembrane Potential
Transmembrane114 – 13421Helical; Potential
Topological domain135 – 1395Mitochondrial matrix Potential
Transmembrane140 – 16021Helical; Potential
Topological domain161 – 21252Mitochondrial intermembrane Potential
Transmembrane213 – 23321Helical; Potential
Topological domain234 – 26027Mitochondrial matrix Potential
Transmembrane261 – 28121Helical; Potential
Topological domain282 – 29918Mitochondrial intermembrane Potential
Transmembrane300 – 32021Helical; Potential
Topological domain321 – 435115Mitochondrial matrix Potential

Natural variations

Alternative sequence1 – 2121MAMGL…QSGRR → MRGTQ in isoform 2.
VSP_008942
Alternative sequence147 – 1493CTV → F in isoform 3.
VSP_008943
Alternative sequence224 – 26542APIFI…PIYIL → VSKNISFLISSSTHEISSLC FMCPRSPKKQVVVDYTWLSV VG in isoform 3.
VSP_008944
Alternative sequence266 – 435170Missing in isoform 3.
VSP_008945
Natural variant441V → A. Ref.3
Corresponds to variant rs8572 [ dbSNP | Ensembl ].
VAR_014932
Natural variant911V → I.
Corresponds to variant rs17619 [ dbSNP | Ensembl ].
VAR_014933

Experimental info

Mutagenesis3371A → C: Increases weakly homooligomer formation in presence or absence of magnesium. Ref.8
Mutagenesis3721A → C: Increases strongly homooligomer formation in presence of magnesium, but weakly in absence of magnesium. Ref.8
Mutagenesis4001T → C: Increases homooligomer formation in presence or absence of magnesium. Ref.8
Mutagenesis4261S → C: Increases weakly homooligomer formation in presence of magnesium, but strongly in absence of magnesium. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 14, 2003. Version 3.
Checksum: CE959F07BCC56041

FASTA43548,548
        10         20         30         40         50         60 
MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPVAPCCCR PHYLFLAASG 

        70         80         90        100        110        120 
PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA DVVQTAAEQS FAELGLGSYT 

       130        140        150        160        170        180 
PVGLIQNLLE FMHVDLGLPW WGAIAACTVF ARCLIFPLIV TGQREAARIH NHLPEIQKFS 

       190        200        210        220        230        240 
SRIREAKLAG DHIEYYKASS EMALYQKKHG IKLYKPLILP VTQAPIFISF FIALREMANL 

       250        260        270        280        290        300 
PVPSLQTGGL WWFQDLTVSD PIYILPLAVT ATMWAVLELG AETGVQSSDL QWMRNVIRMM 

       310        320        330        340        350        360 
PLITLPITMH FPTAVFMYWL SSNLFSLVQV SCLRIPAVRT VLKIPQRVVH DLDKLPPREG 

       370        380        390        400        410        420 
FLESFKKGWK NAEMTRQLRE REQRMRNQLE LAARGPLRQT FTHNPLLQPG KDNPPNIPSS 

       430 
SSKPKSKYPW HDTLG 

« Hide

Isoform 2 [UniParc].

Checksum: 54AC7CD4BB1A241B
Show »

FASTA41946,691
Isoform 3 [UniParc].

Checksum: 84069C19904FB7F5
Show »

FASTA26328,803

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI38079.
RefSeqNP_005006.3. NM_005015.3.
UniGeneHs.151134.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111058. 18 interactions.
IntActQ15070. 3 interactions.
MINTMINT-3030857.
STRING9606.ENSP00000285848.

Protein family/group databases

TCDB2.A.9.1.2. the cytochrome oxidase biogenesis (oxa1) family.

PTM databases

PhosphoSiteQ15070.

Polymorphism databases

DMDM38372882.

Proteomic databases

PaxDbQ15070.
PRIDEQ15070.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358043; ENSP00000350740; ENSG00000155463.
GeneID5018.
KEGGhsa:5018.

Organism-specific databases

CTD5018.
GeneCardsGC14P023235.
H-InvDBHIX0011519.
HGNCHGNC:8526. OXA1L.
HPAHPA003531.
MIM601066. gene.
neXtProtNX_Q15070.
PharmGKBPA32854.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0706.
HOVERGENHBG053388.
InParanoidQ15070.
KOK03217.
PhylomeDBQ15070.

Gene expression databases

ArrayExpressQ15070.
BgeeQ15070.
CleanExHS_OXA1L.
GenevestigatorQ15070.

Family and domain databases

InterProIPR028055. Membr_insert_YidC/Oxa1_C.
IPR001708. Membrane_insert_OXA1/ALB3/YidC.
[Graphical view]
PANTHERPTHR12428. PTHR12428. 1 hit.
PfamPF02096. 60KD_IMP. 1 hit.
[Graphical view]
TIGRFAMsTIGR03592. yidC_oxa1_cterm. 1 hit.
ProtoNetSearch...

Other

ChiTaRSOXA1L. human.
GenomeRNAi5018.
NextBio19320.
PROQ15070.
SOURCESearch...

Entry information

Entry nameOXA1L_HUMAN
AccessionPrimary (citable) accession number: Q15070
Secondary accession number(s): B4DPA2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 14, 2003
Last modified: April 16, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM