Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OXA1L Gene

Aliases for OXA1L Gene

  • OXA1L, Mitochondrial Inner Membrane Protein 2 3 5
  • Oxidase (Cytochrome C) Assembly 1-Like 2 3
  • OXA1-Like Protein 3 4
  • Mitochondrial Inner Membrane Protein OXA1L 3
  • Oxidase Assembly 1-Like Protein 4
  • OXA1Hs 4
  • OXA1 3
  • HSA 4

External Ids for OXA1L Gene

Previous GeneCards Identifiers for OXA1L Gene

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

Summaries for OXA1L Gene

Entrez Gene Summary for OXA1L Gene

  • This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

GeneCards Summary for OXA1L Gene

OXA1L (OXA1L, Mitochondrial Inner Membrane Protein) is a Protein Coding gene. Diseases associated with OXA1L include Hyperthyroxinemia and Dysalbuminemic Hyperthyroxinemia. 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 CIViC 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

Enhancers for OXA1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G022504 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21.6 -228.3 -228335 66.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 MMP14 ABHD4 OXA1L EFS BCL2L2-PABPN1 DAD1 LOC105370399 TRAC C14orf119 OR6J1
GH14G022844 1.9 FANTOM5 ENCODE dbSUPER 22.1 +82.8 82760 9.9 CREB3L1 MLX AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 OXA1L LRP10 REM2 PPP1R3E RBM23 THTPA DAD1 HOMEZ PABPN1 HAUS4
GH14G022587 1.7 FANTOM5 ENCODE dbSUPER 20.9 -177.4 -177449 3.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 MMP14 PABPN1 OXA1L DAD1 ABHD4 OR6J1 BCL2L2 LRP10 REM2 LINC02332
GH14G022689 1.6 FANTOM5 Ensembl ENCODE 15.9 -75.9 -75922 3.0 HDGF PKNOX1 ARNT GATA2 FOS NCOA1 REST ZNF518A ZNF592 CREB3 OXA1L SLC7A7 OR6J1 MRPL52 MMP14 ENSG00000199716 LRP10 REM2 GC14M022699
GH14G022766 1.4 ENCODE dbSUPER 13.5 +0.5 547 2.2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 OXA1L MMP14 ENSG00000258458 SLC7A7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OXA1L on UCSC Golden Path with GeneCards custom track

Promoters for OXA1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066636 379 1800 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for OXA1L Gene

Chromosome:
14
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

Genes around OXA1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXA1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families 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 :
  • Belongs to the OXA1/ALB3/YidC family.
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
genes like me logo Genes that share phenotypes with OXA1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXA1L gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
cytosol 1
lysosome 1

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 IEA --
GO:0005746 mitochondrial respiratory chain NAS 9247084
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OXA1L: view

Pathways & Interactions for OXA1L Gene

SuperPathways for OXA1L Gene

SuperPathway 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

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

No data available for SIGNOR curated interactions for OXA1L Gene

Drugs & Compounds for OXA1L Gene

(68) Drugs for OXA1L Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(73) Additional Compounds for OXA1L Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for OXA1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OXA1L Gene

This gene is overexpressed in Nasal epithelium (55.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OXA1L Gene



Protein tissue co-expression partners for OXA1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OXA1L Gene:

OXA1L

SOURCE GeneReport for Unigene cluster for OXA1L Gene:

Hs.151134

Evidence on tissue expression from TISSUES for OXA1L Gene

  • Lung(4.7)
  • Nervous system(4.7)
  • Blood(4.6)
  • Kidney(4.6)
  • Liver(3.9)
  • Intestine(3.6)
  • Muscle(3)
  • Eye(2.8)
  • Heart(2.8)
  • Skin(2.8)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with OXA1L: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia OXA1L 34 35
  • 85.79 (n)
cow
(Bos Taurus)
Mammalia OXA1L 34 35
  • 84.06 (n)
rat
(Rattus norvegicus)
Mammalia Oxa1l 34
  • 78.99 (n)
mouse
(Mus musculus)
Mammalia Oxa1l 34 16 35
  • 78.6 (n)
oppossum
(Monodelphis domestica)
Mammalia OXA1L 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OXA1L 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OXA1L 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oxa1l 34
  • 61.95 (n)
Str.5322 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5800 34
zebrafish
(Danio rerio)
Actinopterygii oxa1l 34 35
  • 58.2 (n)
Dr.18637 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8369 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005421 34
  • 52.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6404 34 35
  • 49.47 (n)
BcDNA:GH02220 36
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea C01A2.3 34 35
  • 42.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E00925g 34
  • 47.84 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR143W 34
  • 47.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OXA1 34 35 37
  • 44.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10586 35
  • 29 (a)
OneToOne
Species where no ortholog for OXA1L was found in the sources mined by GeneCards:
  • 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
rs193921091 Uncertain significance 22,771,096(+) TACGC(A/G)CTGTA reference, missense
rs1000236178 -- 22,769,979(+) TTGCA(C/T)TTTTC intron-variant
rs1000245963 -- 22,769,703(+) AATAA(G/T)ACCCT intron-variant
rs1000302535 -- 22,764,757(+) TAAAG(C/T)AAGTG intron-variant, upstream-variant-2KB
rs1000729337 -- 22,764,939(+) TCTCT(A/T)AAAAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv127n21 CNV gain 19592680
dgv1836n100 CNV gain 25217958
esv3633763 CNV gain 21293372
nsv563998 CNV gain 21841781
nsv564039 CNV gain 21841781

Variation tolerance for OXA1L Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.37; 90.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OXA1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXA1L

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

Disorders for OXA1L Gene

MalaCards: The human disease database

(6) MalaCards diseases for OXA1L Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperthyroxinemia
dysalbuminemic hyperthyroxinemia
koro
  • genital retraction syndrome
endocardium disease
analbuminemia
  • congenital analbuminemia
- elite association - COSMIC cancer census association via MalaCards
Search OXA1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for OXA1L

Genetic Association Database (GAD)
OXA1L
Human Genome Epidemiology (HuGE) Navigator
OXA1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OXA1L
genes like me logo Genes that share disorders with OXA1L: view

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

Publications for OXA1L Gene

  1. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  2. Identification of protein-protein and protein-ribosome interacting regions of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L. (PMID: 20739282) Haque M.E. … Fecko C.J. (J. Biol. Chem. 2010) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes. (PMID: 20601428) Haque M.E. … Spremulli L.L. (J. Biol. Chem. 2010) 3 4 64
  5. Topogenesis of mammalian Oxa1, a component of the mitochondrial inner membrane protein export machinery. (PMID: 19349278) Sato T. … Mihara K. (J. Biol. Chem. 2009) 2 3 64

Products for OXA1L Gene

Sources for OXA1L Gene

Content
Loading form....