Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Mitochondrial inner membrane protein OXA1L

Gene

OXA1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • mitochondrial ribosome binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • aerobic respiration Source: UniProtKB
  • mitochondrial proton-transporting ATP synthase complex assembly Source: UniProtKB
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • mitochondrial respiratory chain complex I biogenesis Source: UniProtKB
  • negative regulation of ATPase activity Source: UniProtKB
  • negative regulation of oxidoreductase activity Source: UniProtKB
  • oxidation-reduction process Source: UniProtKB
  • protein complex assembly Source: UniProtKB
  • protein insertion into membrane Source: InterPro
  • protein tetramerization Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155463-MONOMER.

Protein family/group databases

TCDBi2.A.9.1.2. the membrane protein insertase (yidc/alb3/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
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:8526. OXA1L.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 113Mitochondrial intermembraneSequence analysisAdd BLAST113
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 139Mitochondrial matrixSequence analysis5
Transmembranei140 – 160HelicalSequence analysisAdd BLAST21
Topological domaini161 – 212Mitochondrial intermembraneSequence analysisAdd BLAST52
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Topological domaini234 – 260Mitochondrial matrixSequence analysisAdd BLAST27
Transmembranei261 – 281HelicalSequence analysisAdd BLAST21
Topological domaini282 – 299Mitochondrial intermembraneSequence analysisAdd BLAST18
Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 435Mitochondrial matrixSequence analysisAdd BLAST115

GO - Cellular componenti

  • integral component of mitochondrial membrane Source: UniProtKB
  • mitochondrial membrane Source: UniProtKB
  • mitochondrial respiratory chain Source: UniProtKB
  • mitochondrion Source: HPA
  • protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi337A → C: Increases weakly homooligomer formation in presence or absence of magnesium. 1 Publication1
Mutagenesisi372A → C: Increases strongly homooligomer formation in presence of magnesium, but weakly in absence of magnesium. 1 Publication1
Mutagenesisi400T → C: Increases homooligomer formation in presence or absence of magnesium. 1 Publication1
Mutagenesisi426S → C: Increases weakly homooligomer formation in presence of magnesium, but strongly in absence of magnesium. 1 Publication1

Organism-specific databases

DisGeNETi5018.
PharmGKBiPA32854.

Polymorphism and mutation databases

BioMutaiOXA1L.
DMDMi38372882.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000020352? – 435Mitochondrial inner membrane protein OXA1L
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei364PhosphoserineCombined sources1
Modified residuei400PhosphothreonineCombined sources1
Modified residuei402PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15070.
MaxQBiQ15070.
PaxDbiQ15070.
PeptideAtlasiQ15070.
PRIDEiQ15070.

PTM databases

iPTMnetiQ15070.
PhosphoSitePlusiQ15070.
SwissPalmiQ15070.

Expressioni

Gene expression databases

BgeeiENSG00000155463.
CleanExiHS_OXA1L.
ExpressionAtlasiQ15070. baseline and differential.
GenevisibleiQ15070. HS.

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

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi111058. 30 interactors.
IntActiQ15070. 9 interactors.
MINTiMINT-3030857.
STRINGi9606.ENSP00000285848.

Structurei

3D structure databases

ProteinModelPortaliQ15070.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the OXA1/ALB3/YidC family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1239. Eukaryota.
COG0706. LUCA.
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. AlignAdd to basket

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01493244V → A.1 PublicationCorresponds to variant rs8572dbSNPEnsembl.1
Natural variantiVAR_01493391V → I.Corresponds to variant rs17619dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0089421 – 21MAMGL…QSGRR → MRGTQ in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_008943147 – 149CTV → F in isoform 3. 1 Publication3
Alternative sequenceiVSP_008944224 – 265APIFI…PIYIL → VSKNISFLISSSTHEISSLC FMCPRSPKKQVVVDYTWLSV VG in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_008945266 – 435Missing in isoform 3. 1 PublicationAdd BLAST170

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UCSCiuc001wgp.3. human. [Q15070-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ15070.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111058. 30 interactors.
IntActiQ15070. 9 interactors.
MINTiMINT-3030857.
STRINGi9606.ENSP00000285848.

Protein family/group databases

TCDBi2.A.9.1.2. the membrane protein insertase (yidc/alb3/oxa1) family.

PTM databases

iPTMnetiQ15070.
PhosphoSitePlusiQ15070.
SwissPalmiQ15070.

Polymorphism and mutation databases

BioMutaiOXA1L.
DMDMi38372882.

Proteomic databases

EPDiQ15070.
MaxQBiQ15070.
PaxDbiQ15070.
PeptideAtlasiQ15070.
PRIDEiQ15070.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358043; ENSP00000350740; ENSG00000155463.
GeneIDi5018.
KEGGihsa:5018.
UCSCiuc001wgp.3. human. [Q15070-1]

Organism-specific databases

CTDi5018.
DisGeNETi5018.
GeneCardsiOXA1L.
H-InvDBHIX0011519.
HGNCiHGNC:8526. OXA1L.
HPAiHPA003531.
MIMi601066. gene.
neXtProtiNX_Q15070.
PharmGKBiPA32854.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1239. Eukaryota.
COG0706. LUCA.
HOVERGENiHBG053388.
InParanoidiQ15070.
KOiK03217.
PhylomeDBiQ15070.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000155463-MONOMER.

Miscellaneous databases

ChiTaRSiOXA1L. human.
GenomeRNAii5018.
PROiQ15070.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155463.
CleanExiHS_OXA1L.
ExpressionAtlasiQ15070. baseline and differential.
GenevisibleiQ15070. HS.

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.
ProtoNetiSearch...

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: November 30, 2016
This is version 145 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.