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Aliases for OXA1L Gene

Aliases for OXA1L Gene

  • Oxidase (Cytochrome C) Assembly 1-Like 2 3
  • Oxidase Assembly 1-Like Protein 3 4
  • OXA1-Like Protein 3 4
  • OXA1Hs 3 4
  • Hsa 3 4
  • Mitochondrial Inner Membrane Protein OXA1L 3
  • OXA1 3

External Ids for OXA1L Gene

Previous GeneCards Identifiers for OXA1L Gene

  • GC14P020608
  • GC14P017023
  • GC14P021225
  • GC14P022306
  • GC14P023235
  • GC14P003353

Summaries for OXA1L Gene

GeneCards Summary for OXA1L Gene

OXA1L (Oxidase (Cytochrome C) Assembly 1-Like) is a Protein Coding gene. Diseases associated with OXA1L include dysalbuminemic hyperthyroxinemia and protein-losing enteropathy. Among its related pathways are Protein export. GO annotations related to this gene include protein homodimerization activity and mitochondrial ribosome binding. An important paralog of this gene is COX18.

UniProtKB/Swiss-Prot for OXA1L Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OXA1L Gene

Genomics for OXA1L Gene

Regulatory Elements for OXA1L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OXA1L Gene

Start:
22,766,522 bp from pter
End:
22,773,041 bp from pter
Size:
6,520 bases
Orientation:
Plus strand

Genomic View for OXA1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OXA1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXA1L Gene

Proteins for OXA1L Gene

  • Protein details for OXA1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15070-OXA1L_HUMAN
    Recommended name:
    Mitochondrial inner membrane protein OXA1L
    Protein Accession:
    Q15070
    Secondary Accessions:
    • B4DPA2

    Protein attributes for OXA1L Gene

    Size:
    435 amino acids
    Molecular mass:
    48548 Da
    Quaternary 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.
    SequenceCaution:
    • Sequence=AAH01669.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA05127.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for OXA1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OXA1L Gene

Proteomics data for OXA1L Gene at MOPED

Post-translational modifications for OXA1L Gene

  • Ubiquitination at Lys178
  • Modification sites at PhosphoSitePlus

Other Protein References for OXA1L Gene

No data available for DME Specific Peptides for OXA1L Gene

Domains for OXA1L Gene

Protein Domains for OXA1L Gene

Suggested Antigen Peptide Sequences for OXA1L Gene

Graphical View of Domain Structure for InterPro Entry

Q15070

UniProtKB/Swiss-Prot:

OXA1L_HUMAN :
  • Q15070
Family:
  • Belongs to the OXA1/ALB3/YidC family.
genes like me logo Genes that share domains with OXA1L: view

No data available for Gene Families for OXA1L Gene

Function for OXA1L Gene

Molecular function for OXA1L Gene

GENATLAS Biochemistry: cytochrome c oxidase assembly 1-like
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for OXA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20601428
GO:0042803 protein homodimerization activity IDA 20601428
GO:0097177 mitochondrial ribosome binding IDA 20739282
genes like me logo Genes that share ontologies with OXA1L: view

Phenotypes for OXA1L Gene

genes like me logo Genes that share phenotypes with OXA1L: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OXA1L

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for OXA1L Gene

Localization for OXA1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXA1L Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OXA1L Gene COMPARTMENTS Subcellular localization image for OXA1L gene
Compartment Confidence
mitochondrion 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for OXA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane --
GO:0005746 mitochondrial respiratory chain NAS 9247084
GO:0016021 integral component of membrane --
GO:0031966 mitochondrial membrane IDA 20601428
genes like me logo Genes that share ontologies with OXA1L: view

Pathways for OXA1L Gene

SuperPathways for OXA1L Gene

Superpath Contained pathways
1 Protein export
genes like me logo Genes that share pathways with OXA1L: view

Pathways by source for OXA1L Gene

1 KEGG pathway for OXA1L Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Mitochondrial Energy Metabolism in human,mouse,rat

Gene Ontology (GO) - Biological Process for OXA1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 9247084
GO:0009060 aerobic respiration NAS 9247084
GO:0032780 negative regulation of ATPase activity IMP 17936786
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 17936786
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly IMP 17936786
genes like me logo Genes that share ontologies with OXA1L: view

Compounds for OXA1L Gene

(141) Novoseek inferred chemical compound relationships for OXA1L Gene

Compound -log(P) Hits PubMed IDs
dansylsarcosine 86.9 17
dansylamide 75.8 8
warfarin 75.4 134
rhsa 74.5 14
phenylbutazone 71.6 25
genes like me logo Genes that share compounds with OXA1L: view

Transcripts for OXA1L Gene

Unigene Clusters for OXA1L Gene

Oxidase (cytochrome c) assembly 1-like:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OXA1L

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OXA1L Gene

No ASD Table

Relevant External Links for OXA1L Gene

GeneLoc Exon Structure for
OXA1L
ECgene alternative splicing isoforms for
OXA1L

Expression for OXA1L Gene

mRNA expression in normal human tissues for OXA1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OXA1L Gene

SOURCE GeneReport for Unigene cluster for OXA1L Gene Hs.151134

genes like me logo Genes that share expressions with OXA1L: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OXA1L Gene

Orthologs for OXA1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OXA1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OXA1L 35
  • 99.31 (n)
  • 99.54 (a)
OXA1L 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OXA1L 35
  • 84.06 (n)
  • 79.77 (a)
OXA1L 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OXA1L 35
  • 85.79 (n)
  • 80.65 (a)
OXA1L 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oxa1l 35
  • 78.6 (n)
  • 75.35 (a)
Oxa1l 16
Oxa1l 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OXA1L 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OXA1L 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Oxa1l 35
  • 78.99 (n)
  • 75.58 (a)
lizard
(Anolis carolinensis)
Reptilia OXA1L 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5800 35
tropical clawed frog
(Silurana tropicalis)
Amphibia oxa1l 35
  • 61.95 (n)
  • 60.77 (a)
Str.5322 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8369 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18637 35
oxa1l 35
  • 58.2 (n)
  • 54.71 (a)
oxa1l 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005421 35
  • 52.14 (n)
  • 43.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6404 35
  • 49.47 (n)
  • 39.26 (a)
CG6404 36
  • 31 (a)
OneToOne
BcDNA:GH02220 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea C01A2.3 35
  • 42.57 (n)
  • 28.28 (a)
C01A2.3 36
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR143W 35
  • 47.2 (n)
  • 37.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXA1 35
  • 44.22 (n)
  • 35.29 (a)
OXA1 36
  • 28 (a)
OneToMany
OXA1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00925g 35
  • 47.84 (n)
  • 35.11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10586 36
  • 29 (a)
OneToOne
Species with no ortholog for OXA1L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OXA1L Gene

ENSEMBL:
Gene Tree for OXA1L (if available)
TreeFam:
Gene Tree for OXA1L (if available)

Paralogs for OXA1L Gene

Paralogs for OXA1L Gene

genes like me logo Genes that share paralogs with OXA1L: view

Variants for OXA1L Gene

Sequence variations from dbSNP and Humsavar for OXA1L Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs8572 - 22,767,315(-) GGGCT(A/G)CTGGG reference, missense
rs8786 -- 22,771,119(+) CAGCG(A/T)GTTGT synonymous-codon, reference
rs17619 - 22,768,003(+) CAGCA(A/G)TACCT missense, reference
rs1957373 -- 22,766,488(+) ACTTC(C/T)TTTCA upstream-variant-2KB
rs1957374 -- 22,766,599(+) GATCT(A/G)CGGCT synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for OXA1L Gene

Variant ID Type Subtype PubMed ID
dgv127n21 CNV Gain 19592680
nsv901489 CNV Gain 21882294

Relevant External Links for OXA1L Gene

HapMap Linkage Disequilibrium report
OXA1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXA1L Gene

Disorders for OXA1L Gene

(88) Novoseek inferred disease relationships for OXA1L Gene

Disease -log(P) Hits PubMed IDs
hyperthyroxinemia 58 4
shock hemorrhagic 34.2 2
uremia 32.6 5
hypoalbuminemia 26.7 1
red cell aplasia 21.1 1

Relevant External Links for OXA1L

Genetic Association Database (GAD)
OXA1L
Human Genome Epidemiology (HuGE) Navigator
OXA1L
genes like me logo Genes that share disorders with OXA1L: view

No data available for UniProtKB/Swiss-Prot for OXA1L Gene

Publications for OXA1L Gene

  1. Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae. (PMID: 7991568) Bonnefoy N. … Dujardin G. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4
  2. The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome. (PMID: 8586451) Molina-Gomes D. … Dujardin G. (Genomics 1995) 2 3
  3. Sequence and structure of the human OXA1L gene and its upstream elements. (PMID: 9247084) Roetig A. … Munnich A. (Biochim. Biophys. Acta 1997) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase. (PMID: 17936786) Stiburek L. … Zeman J. (J. Mol. Biol. 2007) 3 4

Products for OXA1L Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Mitochondrial Energy Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate OXA1L
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for OXA1L
    • Block miRNA regulation of OXA1L using miScript Target Protectors

    Sources for OXA1L Gene

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