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FLASH GENE

Symbol

OXA1L

contributors: mct - updated : 13-07-2021

HGNC name	oxidase (cytochrome c) assembly 1-like
HGNC id	8526

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Endocrine adrenal gland       highly   thyroid       highly Reproductive female system uterus cervix   highly

cell lineage
cell lines	many cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminal tail is largely monomeric in solution but does tend to oligomerize at increasing salt concentrations

HOMOLOGY

Homologene

FAMILY

OXA1/OXAA family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	required for the insertion of integral membrane proteins into the mitochondrial inner membrane
	essential for the activity and assembly of cytochrome oxidase
	represents a mitochondrial integral membrane protein required for the correct biogenesis of F(1)F(o)-ATP synthase and NADH:ubiquinone oxidoreductase
	is required for the assembly of multiple respiratory chain complexes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	OXA1L-C-terminal approximately 100-amino acid tail of OXA1L (Oxa1L-CTT) cross-links to mammalian mitochondrial homologs of the bacterial ribosomal proteins RPL13, RPL20, and RPL28
	cardiolipin is required to stabilise the interaction of the mitochondrial ribosome with the membrane via its association with OXA1L during active translation
	mitoribosomes interact with the OXA1L insertase to couple protein synthesis and membrane delivery

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS