OXA1L

Summary

OXA1L (OXA1L mitochondrial inner membrane insertase, HGNC:8526) is a protein-coding gene on chromosome 14q11.2, encoding Mitochondrial inner membrane protein OXA1L (Q15070). Mitochondrial membrane insertase that mediates the cotranslational insertion of integral membrane proteins into the mitochondrial inner membrane. It is a selective cancer dependency (DepMap: 58.1% of cell lines).

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.

Source: NCBI Gene 5018 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 117 total — 3 pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 58.1% of screened cell lines
• MANE Select transcript: NM_005015

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8526
Approved symbol	OXA1L
Name	OXA1L mitochondrial inner membrane insertase
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC133129, OXA1, OXA1L1
Ensembl gene	ENSG00000155463
Ensembl biotype	protein_coding
OMIM	601066
Entrez	5018

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 13 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay

ENST00000285848, ENST00000358043, ENST00000412791, ENST00000431881, ENST00000442110, ENST00000473744, ENST00000481218, ENST00000483939, ENST00000495424, ENST00000556473, ENST00000557299, ENST00000612549, ENST00000887759, ENST00000887760, ENST00000887761, ENST00000887762, ENST00000887763, ENST00000937832, ENST00000937833, ENST00000937834

RefSeq mRNA: 1 — MANE Select: NM_005015 NM_005015

CCDS: CCDS9573

Canonical transcript exons

ENST00000612549 — 10 exons

Exon	Start	End
ENSE00001021020	22770461	22770625
ENSE00003473171	22770805	22770909
ENSE00003498734	22769791	22769934
ENSE00003510967	22771018	22771180
ENSE00003532132	22767958	22768171
ENSE00003629261	22770193	22770278
ENSE00003637839	22771268	22771348
ENSE00003667650	22767248	22767409
ENSE00003683432	22766688	22766764
ENSE00003742340	22771434	22773042

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.9241 / max 328.6012, expressed in 1825 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138816	83.0685	1825
138817	0.5923	264
138818	0.2632	129

Top tissues by expression

299 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.35	gold quality
body of pancreas	UBERON:0001150	98.28	gold quality
diaphragm	UBERON:0001103	98.19	gold quality
gastrocnemius	UBERON:0001388	98.12	gold quality
apex of heart	UBERON:0002098	98.00	gold quality
muscle of leg	UBERON:0001383	97.98	gold quality
triceps brachii	UBERON:0001509	97.96	gold quality
heart left ventricle	UBERON:0002084	97.95	gold quality
body of stomach	UBERON:0001161	97.93	gold quality
cardiac ventricle	UBERON:0002082	97.92	gold quality
right adrenal gland	UBERON:0001233	97.91	gold quality
right adrenal gland cortex	UBERON:0035827	97.91	gold quality
rectum	UBERON:0001052	97.87	gold quality
left adrenal gland	UBERON:0001234	97.87	gold quality
mucosa of stomach	UBERON:0001199	97.85	gold quality
left adrenal gland cortex	UBERON:0035825	97.84	gold quality
granulocyte	CL:0000094	97.72	gold quality
right lobe of liver	UBERON:0001114	97.72	gold quality
muscle organ	UBERON:0001630	97.72	gold quality
skeletal muscle organ	UBERON:0014892	97.71	gold quality
metanephros cortex	UBERON:0010533	97.69	gold quality
left lobe of thyroid gland	UBERON:0001120	97.64	gold quality
monocyte	CL:0000576	97.63	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.58	gold quality
leukocyte	CL:0000738	97.57	gold quality
right lobe of thyroid gland	UBERON:0001119	97.57	gold quality
mononuclear cell	CL:0000842	97.56	gold quality
transverse colon	UBERON:0001157	97.54	gold quality
adrenal cortex	UBERON:0001235	97.53	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting OXA1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-5571-3P	97.80	66.07	640
HSA-MIR-4637	97.69	68.14	632
HSA-MIR-1227-3P	97.36	66.94	834
HSA-MIR-1468-5P	94.18	69.04	176

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 58.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• Topogenesis of Oxa1 is a cooperative event of all five transmembrane segments (TM), and hexapeptide GLPWWG followed immediately by TM1 is essential for correct Oxa1 topogenesis. (PMID:19349278)
• the structure of the C-terminal tail of human Oxa1L (Oxa1L-CTT) and its interaction with the mitochondrial ribosome (PMID:20601428)
• Oxa1L-CTT undergoes conformational changes and induced oligomer formation when it binds to the ribosome. (PMID:20739282)
• variants in both the DAD1 and OXA1L genes may affect atopy and asthma in a Latin American population with a high prevalence of asthma. (PMID:30032071)
• Mechanism of membrane-tethered mitochondrial protein synthesis. (PMID:33602856)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	oxa1l	ENSDARG00000069313
mus_musculus	Oxa1l	ENSMUSG00000000959
rattus_norvegicus	Oxa1l	ENSRNOG00000009713
drosophila_melanogaster	OXA1L	FBGN0027615
caenorhabditis_elegans	oxa-1	WBGENE00007215

Paralogs (1): COX18 (ENSG00000163626)

Protein

Protein identifiers

Mitochondrial inner membrane protein OXA1L — Q15070 (reviewed: Q15070)

Alternative names: OXA1Hs, Oxidase assembly 1-like protein

All UniProt accessions (5): Q15070, C9JC63, E7EVY0, H7BZE6, J3KNA0

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial membrane insertase that mediates the cotranslational 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.

Subunit / interactions. Monomer; predominantly monomeric at low salt concentrations. Homooligomer; predominantly homooligomeric at high salt concentrations. Associates with the mitochondrial ribosome. Associates preferentially as a dimer with the large ribosomal subunit 39S of the mitochondrial ribosome. Interacts with OXA1L; promoting cotranslational quality control in mitochondria.

Subcellular location. Mitochondrion inner membrane.

Similarity. Belongs to the OXA1/ALB3/YidC family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q15070-1	1	yes
Q15070-2	2
Q15070-3	3

RefSeq proteins (1): NP_005006* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001708	YidC/ALB3/OXA1/COX18	Family
IPR028055	YidC/Oxa/ALB_C	Domain

Pfam: PF02096

UniProt features (28 total): topological domain 6, transmembrane region 5, splice variant 4, mutagenesis site 4, modified residue 3, sequence variant 3, transit peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
9OLF	ELECTRON MICROSCOPY	2.46
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
6ZM5	ELECTRON MICROSCOPY	2.89
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
9PSM	ELECTRON MICROSCOPY	2.98
9PGI	ELECTRON MICROSCOPY	3.02
9PG8	ELECTRON MICROSCOPY	3.06
9PS7	ELECTRON MICROSCOPY	3.08
9PSI	ELECTRON MICROSCOPY	3.12
9PGM	ELECTRON MICROSCOPY	3.18
9PRX	ELECTRON MICROSCOPY	3.23
9PS0	ELECTRON MICROSCOPY	3.29
9PRD	ELECTRON MICROSCOPY	3.31
9PRQ	ELECTRON MICROSCOPY	3.34
7A5K	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15070-F1	74.78	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 364, 400, 402

Mutagenesis-validated functional residues (4):

Position	Phenotype
337	increases weakly homooligomer formation in presence or absence of magnesium.
372	increases strongly homooligomer formation in presence of magnesium, but weakly in absence of magnesium.
400	increases homooligomer formation in presence or absence of magnesium.
426	increases weakly homooligomer formation in presence of magnesium, but strongly in absence of magnesium.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-6799198	Complex I biogenesis
R-HSA-9937383	Mitochondrial ribosome-associated quality control

MSigDB gene sets: 200 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MORF_UBE2I, GOBP_NEGATIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSLATION, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY, TGACCTY_ERR1_Q2, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (10): aerobic respiration (GO:0009060), mitochondrial translation (GO:0032543), negative regulation of ATP-dependent activity (GO:0032780), protein insertion into mitochondrial inner membrane from matrix (GO:0032979), mitochondrial respiratory chain complex I assembly (GO:0032981), mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615), protein tetramerization (GO:0051262), negative regulation of oxidoreductase activity (GO:0051354), mitochondrial protein quality control (GO:0141164), establishment of protein localization to membrane (GO:0090150)

GO Molecular Function (4): membrane insertase activity (GO:0032977), protein homodimerization activity (GO:0042803), mitochondrial ribosome binding (GO:0097177), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), mitochondrial membrane (GO:0031966), protein-containing complex (GO:0032991), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Mitochondrial translation	4
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	4
mitochondrial respiratory chain complex assembly	2
cellular respiration	1
translation	1
mitochondrial gene expression	1
regulation of ATP-dependent activity	1
negative regulation of molecular function	1
ATP-dependent activity	1
inner mitochondrial membrane organization	1
protein insertion into mitochondrial membrane	1
NADH dehydrogenase complex assembly	1
proton-transporting ATP synthase complex assembly	1
protein complex oligomerization	1
oxidoreductase activity	1
negative regulation of catalytic activity	1
regulation of oxidoreductase activity	1
protein quality control for misfolded or incompletely synthesized proteins	1
establishment of protein localization	1
localization within membrane	1
establishment of protein localization to membrane	1
protein carrier activity	1
identical protein binding	1
protein dimerization activity	1
ribosome binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular organelle lumen	1
mitochondrial envelope	1
organelle membrane	1
cellular_component	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OXA1L	TIMM17A	Q99595	923
OXA1L	CD248	Q9HCU0	882
OXA1L	IMMT	Q16891	848
OXA1L	SURF1	Q15526	811
OXA1L	GET1	O00258	767
OXA1L	TFAM	Q00059	766
OXA1L	TOMM20	Q15388	742
OXA1L	EMC3	Q9P0I2	733
OXA1L	TOMM70	O94826	722
OXA1L	UBAC1	Q9BSL1	716
OXA1L	MT-CO2	P00403	715
OXA1L	TIMM17B	O60830	681
OXA1L	RASD2	Q96D21	668
OXA1L	TIMM50	Q3ZCQ8	666
OXA1L	CHCHD4	Q8N4Q1	666

IntAct

87 interactions, top by confidence:

A	B	Type	Score
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
CXCR4	FANCA	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
OXA1L	CBLC	psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
CHCHD10	ACSL4	psi-mi:“MI:0914”(association)	0.350
COQ9	ACOT7	psi-mi:“MI:0914”(association)	0.350
PTPMT1	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
MAIP1	COQ9	psi-mi:“MI:0914”(association)	0.350
CHCHD10	AKR7A2	psi-mi:“MI:0914”(association)	0.350
NDUFA4	COX7A2L	psi-mi:“MI:0914”(association)	0.350
ATAD3B	GTPBP10	psi-mi:“MI:0914”(association)	0.350
LATS2	WTIP	psi-mi:“MI:0914”(association)	0.350
SMIM26	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (188): OXA1L (Affinity Capture-RNA), OXA1L (Affinity Capture-RNA), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS), OXA1L (Affinity Capture-MS)

ESM2 similar proteins: A5GZW8, A6H773, A6QPI4, D3ZAW2, O14521, O75208, P09925, Q05B67, Q08BI9, Q12887, Q15070, Q15526, Q2KHV4, Q2NL34, Q3B8P0, Q3SYV3, Q3TD49, Q4KLZ1, Q5EA03, Q5G2C6, Q5PQL3, Q5R460, Q5R5H4, Q5R7D0, Q5RC29, Q5RE99, Q5T6X4, Q5XIJ4, Q5XJY4, Q5ZIS0, Q5ZLJ4, Q68FN7, Q68FT1, Q6AZR3, Q6AZV0, Q6DGM2, Q6P355, Q6PCT8, Q800L1, Q8BSF4

Diamond homologs: O13375, O43092, P39952, Q15070, Q3SYV3, Q8BGA9, Q9SKD3, O14300, Q2Y5A8, Q42191, Q2S6M5, Q88RX1, O66561, O87567, Q01625, Q814F4, Q81JH1, Q8EKU1, Q9M3B7, Q0A4L5, Q0VKU7, A4W485, C4LDZ4, P0DC86, P0DC87, P65631, Q5R7D0, Q5XDY9, Q73JM1, Q82YV1, Q8DN93, Q8DVX3, Q8N8Q8, Q8P2P8, Q926Q5, Q97NI6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial ribosome-associated quality control	15	23.0×	2e-14
Mitochondrial translation	13	22.4×	8e-13
Mitochondrial translation initiation	14	22.2×	1e-13
Mitochondrial translation elongation	14	22.2×	1e-13
Mitochondrial translation termination	14	19.2×	8e-13
Translation	13	10.1×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	15	25.6×	2e-14
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	7	15.0×	1e-04
positive regulation of cytosolic calcium ion concentration	9	10.3×	9e-05
phospholipase C-activating G protein-coupled receptor signaling pathway	7	9.0×	2e-03
translation	8	8.1×	1e-03
G protein-coupled receptor signaling pathway	13	4.6×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

117 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	79
Likely benign	15
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
560159	NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs)	Pathogenic
560160	NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe)	Pathogenic
6215	NC_000014.9:g.22772520_22777166del	Pathogenic

SpliceAI

1237 predictions. Top by Δscore:

Variant	Effect	Δscore
14:22768096:G:GG	donor_gain	1.0000
14:22768120:G:GT	donor_gain	1.0000
14:22768121:A:T	donor_gain	1.0000
14:22769912:G:GG	donor_gain	1.0000
14:22769931:GAGT:G	donor_gain	1.0000
14:22769933:GT:G	donor_gain	1.0000
14:22769935:G:GG	donor_gain	1.0000
14:22769939:G:GG	donor_gain	1.0000
14:22770459:A:AG	acceptor_gain	1.0000
14:22770460:G:GG	acceptor_gain	1.0000
14:22770622:TGAG:T	donor_loss	1.0000
14:22770623:GAGGT:G	donor_loss	1.0000
14:22770624:AGGTA:A	donor_loss	1.0000
14:22770625:GGT:G	donor_loss	1.0000
14:22770626:GT:G	donor_loss	1.0000
14:22770627:T:G	donor_loss	1.0000
14:22771016:A:AG	acceptor_gain	1.0000
14:22771017:G:GG	acceptor_gain	1.0000
14:22771017:GGCA:G	acceptor_gain	1.0000
14:22771058:T:A	acceptor_gain	1.0000
14:22771177:AAAGG:A	donor_loss	1.0000
14:22771178:AAGG:A	donor_loss	1.0000
14:22771179:AGGTA:A	donor_loss	1.0000
14:22771180:GGTAA:G	donor_loss	1.0000
14:22771181:G:GA	donor_loss	1.0000
14:22771181:G:GG	donor_gain	1.0000
14:22771262:A:AG	acceptor_gain	1.0000
14:22771263:C:G	acceptor_gain	1.0000
14:22771264:A:AG	acceptor_gain	1.0000
14:22771264:ACAG:A	acceptor_gain	1.0000

AlphaMissense

2811 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:22768150:T:A	W140R	0.991
14:22768150:T:C	W140R	0.991
14:22768153:T:A	W141R	0.991
14:22768153:T:C	W141R	0.991
14:22770545:T:A	W252R	0.989
14:22770545:T:C	W252R	0.989
14:22770462:C:A	A224D	0.986
14:22771451:T:C	F401L	0.986
14:22771453:T:A	F401L	0.986
14:22771453:T:G	F401L	0.986
14:22769842:G:C	R164P	0.985
14:22770548:T:C	F253L	0.985
14:22770550:C:A	F253L	0.985
14:22770550:C:G	F253L	0.985
14:22771033:T:A	W319R	0.985
14:22771033:T:C	W319R	0.985
14:22768152:G:C	W140C	0.984
14:22768152:G:T	W140C	0.984
14:22771047:T:A	N323K	0.984
14:22771047:T:G	N323K	0.984
14:22770558:T:A	L256H	0.983
14:22771042:T:C	S322P	0.983
14:22771094:G:C	R339P	0.983
14:22771109:T:C	I344T	0.983
14:22770470:T:C	F227L	0.982
14:22770472:C:A	F227L	0.982
14:22770472:C:G	F227L	0.982
14:22770501:T:G	M237R	0.981
14:22771030:T:G	Y318D	0.981
14:22769847:G:C	A166P	0.980

dbSNP variants (sampled 300 via entrez): RS1000236178 (14:22769979 C>G,T), RS1000245963 (14:22769703 G>T), RS1000302535 (14:22764757 C>T), RS1000729337 (14:22764939 A>T), RS1000750840 (14:22765489 G>A,C,T), RS1001227733 (14:22765473 C>A,T), RS1001364689 (14:22765166 A>G), RS1002241371 (14:22772248 G>A,C), RS1002660066 (14:22773197 C>A,G,T), RS1002680620 (14:22767277 G>C), RS1002706557 (14:22772088 A>C), RS1003146815 (14:22772299 A>G), RS1003368965 (14:22767549 C>G,T), RS1003982671 (14:22772439 A>G), RS1004251396 (14:22772532 C>A,G)

Disease associations

OMIM: gene MIM:601066 | disease phenotypes: MIM:222700

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (5): prostate cancer (MONDO:0008315), myoepithelial tumor (MONDO:0002380), mitochondrial disease (MONDO:0044970), lysinuric protein intolerance (MONDO:0009109), combined oxidative phosphorylation deficiency (MONDO:0000732)

Orphanet (3): Familial prostate cancer (Orphanet:1331), Mitochondrial disease (Orphanet:68380), Lysinuric protein intolerance (Orphanet:470)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005606_2	Response to hepatitis B vaccine	2.000000e-06
GCST007998_17	Intraocular pressure	6.000000e-17
GCST009391_623	Metabolite levels	6.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004695	intraocular pressure measurement
EFO:0010506	kynurenic acid measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C562687	Lysinuric Protein Intolerance (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067076 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.19	Kd	6500	nM	CHEMBL5653589
5.19	ED50	6500	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148922: Binding affinity to human OXA1L incubated for 45 mins by Kinobead based pull down assay	kd	6.4997	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression, decreases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
deguelin	increases expression	1
corosolic acid	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Atrazine	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Ribonucleotides	affects binding	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tunicamycin	increases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1
Sirolimus	decreases reaction, increases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651964	Binding	Binding affinity to human OXA1L incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3D6	Abcam HEK293T OXA1L KO	Transformed cell line	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer