OXA1L (OXA1L mitochondrial inner membrane protein)

2007-04-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
OXA1
FUSION GENES

Other Information

Locus ID:

NCBI: 5018
MIM: 601066
HGNC: 8526
Ensembl: ENSG00000155463

Variants:

dbSNP: 5018
ClinVar: 5018
TCGA: ENSG00000155463
COSMIC: OXA1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155463ENST00000285848J3KNA0
ENSG00000155463ENST00000358043Q15070
ENSG00000155463ENST00000412791E7EVY0
ENSG00000155463ENST00000431881C9JC63
ENSG00000155463ENST00000442110H7BZE6
ENSG00000155463ENST00000612549A0A087X0L7

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Protein exportKEGGhsa03060

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206014282010Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes.16
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
207392822010Identification of protein-protein and protein-ribosome interacting regions of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L.13
193492782009Topogenesis of mammalian Oxa1, a component of the mitochondrial inner membrane protein export machinery.5
300320712018Polymorphisms in the DAD1 and OXA1L genes are associated with asthma and atopy in a South American population.2

Citation

Dessen P

OXA1L (OXA1L mitochondrial inner membrane protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47483/oxa1l