OXLD1

Summary

OXLD1 (oxidoreductase like domain containing 1, HGNC:27901) is a protein-coding gene on chromosome 17q25.3, encoding Oxidoreductase-like domain-containing protein 1 (Q5BKU9).

Located in mitochondrion.

Source: NCBI Gene 339229 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 19 total — 1 pathogenic
• MANE Select transcript: NM_001039842

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27901
Approved symbol	OXLD1
Name	oxidoreductase like domain containing 1
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC104712
Ensembl gene	ENSG00000204237
Ensembl biotype	protein_coding
Entrez	339229

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000374741, ENST00000571092, ENST00000571503, ENST00000571757, ENST00000573786, ENST00000575963, ENST00000575992, ENST00000934282

RefSeq mRNA: 4 — MANE Select: NM_001039842 NM_001039842, NM_001304994, NM_001304995, NM_001304999

CCDS: CCDS32766, CCDS77132

Canonical transcript exons

ENST00000374741 — 2 exons

Exon	Start	End
ENSE00001464500	81665036	81665584
ENSE00001506236	81666518	81666605

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 91.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.5173 / max 87.8434, expressed in 1804 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168777	14.9347	1804
168778	0.5826	230

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	91.48	gold quality
right testis	UBERON:0004534	90.79	gold quality
apex of heart	UBERON:0002098	90.76	gold quality
right adrenal gland	UBERON:0001233	90.66	gold quality
left testis	UBERON:0004533	90.59	gold quality
right adrenal gland cortex	UBERON:0035827	90.46	gold quality
left adrenal gland cortex	UBERON:0035825	90.13	gold quality
left adrenal gland	UBERON:0001234	89.88	gold quality
granulocyte	CL:0000094	89.72	gold quality
body of stomach	UBERON:0001161	89.65	gold quality
spleen	UBERON:0002106	89.41	gold quality
pancreatic ductal cell	CL:0002079	89.19	gold quality
adrenal cortex	UBERON:0001235	89.15	gold quality
skin of abdomen	UBERON:0001416	88.98	gold quality
skin of leg	UBERON:0001511	88.94	gold quality
lower esophagus mucosa	UBERON:0035834	88.87	gold quality
right uterine tube	UBERON:0001302	88.73	gold quality
monocyte	CL:0000576	88.44	gold quality
testis	UBERON:0000473	88.35	gold quality
mononuclear cell	CL:0000842	88.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.17	gold quality
leukocyte	CL:0000738	88.11	gold quality
prefrontal cortex	UBERON:0000451	88.04	gold quality
right lobe of liver	UBERON:0001114	87.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.93	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.91	gold quality
metanephros cortex	UBERON:0010533	87.91	gold quality
gingival epithelium	UBERON:0001949	87.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.80	gold quality
lower esophagus	UBERON:0013473	87.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting OXLD1, 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-4455	100.00	65.48	1587
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-6776-3P	98.38	66.34	655
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-125A-3P	97.04	66.92	902

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Oxld1	ENSMUSG00000039670
rattus_norvegicus	Oxld1	ENSRNOG00000047517
drosophila_melanogaster	CG5500	FBGN0039461
caenorhabditis_elegans		WBGENE00016764

Protein

Protein identifiers

Oxidoreductase-like domain-containing protein 1 — Q5BKU9 (reviewed: Q5BKU9)

All UniProt accessions (3): Q5BKU9, I3L208, I3L247

RefSeq proteins (4): NP_001034931, NP_001291923, NP_001291924, NP_001291928 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019180	Oxidoreductase-like_N	Domain
IPR039251	OXLD1	Family

Pfam: PF09791

UniProt features (5 total): chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BKU9-F1	65.31	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, MULLIGHAN_MLL_SIGNATURE_1_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_UP, MARTENS_TRETINOIN_RESPONSE_DN, LU_EZH2_TARGETS_UP, LEE_BMP2_TARGETS_UP, BONOME_OVARIAN_CANCER_SURVIVAL_SUBOPTIMAL_DEBULKING, PECE_MAMMARY_STEM_CELL_UP, LIM_MAMMARY_STEM_CELL_DN, RB_P130_DN.V1_UP, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

478 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OXLD1	ANTKMT	Q9BQD7	505
OXLD1	OGFOD3	Q6PK18	504
OXLD1	TMEM242	Q9NWH2	497
OXLD1	PIGBOS1	A0A0B4J2F0	474
OXLD1	LYRM9	A8MSI8	464
OXLD1	DHRS4L2	Q6PKH6	453
OXLD1	SMIM26	A0A096LP01	451
OXLD1	REX1BD	Q96EN9	441
OXLD1	C5orf63	A6NC05	434
OXLD1	MIGA2	Q7L4E1	409
OXLD1	DHRS4	Q9BTZ2	334
OXLD1	SLC35A4	Q96G79	331
OXLD1	ACOT13	Q9NPJ3	329
OXLD1	WDR45B	Q5MNZ6	323
OXLD1	SNRPB2	P08579	311

IntAct

14 interactions, top by confidence:

A	B	Type	Score
TMEM38A	DOK2	psi-mi:“MI:0914”(association)	0.530
LINC03122	H2AX	psi-mi:“MI:0914”(association)	0.530
C1orf220	HCCS	psi-mi:“MI:0914”(association)	0.530
LCN15	POTEF	psi-mi:“MI:0914”(association)	0.530
HSPB9	USP12	psi-mi:“MI:0914”(association)	0.530
OXLD1	NUDT19	psi-mi:“MI:0914”(association)	0.350
HVCN1	DOK2	psi-mi:“MI:0914”(association)	0.350
CENPM	DOK2	psi-mi:“MI:0914”(association)	0.350
RNASE13	POTEF	psi-mi:“MI:0914”(association)	0.350
OXLD1	PRORP	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (114): OXLD1 (Affinity Capture-MS), CARS2 (Affinity Capture-MS), MUT (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), KIAA0391 (Affinity Capture-MS), AARS2 (Affinity Capture-MS), HSD17B8 (Affinity Capture-MS), MOCS1 (Affinity Capture-MS), TOP3A (Affinity Capture-MS), PUS1 (Affinity Capture-MS), CLPX (Affinity Capture-MS), ALAS1 (Affinity Capture-MS), AUH (Affinity Capture-MS), CETN3 (Affinity Capture-MS), GLDC (Affinity Capture-MS)

ESM2 similar proteins: A7YVI8, F1QCY8, F5HB62, F5HF68, O75381, O95343, P03177, P0C8B5, P36552, P53814, P97287, Q02873, Q07820, Q0IH40, Q1HVD1, Q29RJ0, Q3B7D0, Q3KSQ2, Q3UHD9, Q4VC12, Q5BIR3, Q5BKU9, Q5E9N0, Q5R4R7, Q5R7Q6, Q5XIX0, Q62233, Q642G4, Q6BCB4, Q6DGF9, Q6Y2X3, Q7L2J0, Q7YRZ9, Q80TL4, Q89420, Q8CGU4, Q8CI12, Q8HYS5, Q8K3A9, Q921R4

Diamond homologs: A7YVI8, Q5BKU9, Q5R7Q6, Q9CR10, Q9USH2, Q02873, B1AS42

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	16
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2445210	Single allele	Pathogenic

SpliceAI

452 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81666157:A:AC	donor_gain	1.0000
17:81666286:T:TA	donor_gain	1.0000
17:81666149:CTTCA:C	donor_gain	0.9900
17:81666162:A:C	donor_gain	0.9900
17:81666165:AGT:A	donor_gain	0.9900
17:81666167:T:TA	donor_gain	0.9900
17:81666249:A:AC	donor_gain	0.9900
17:81666368:T:TA	donor_gain	0.9900
17:81666505:T:TA	donor_gain	0.9900
17:81665581:CCCC:C	acceptor_gain	0.9800
17:81665582:CCCC:C	acceptor_gain	0.9800
17:81666148:A:AC	donor_gain	0.9800
17:81666149:C:CC	donor_gain	0.9800
17:81666151:T:TA	donor_gain	0.9800
17:81666153:A:AC	donor_gain	0.9800
17:81666154:C:CC	donor_gain	0.9800
17:81666439:T:TA	donor_gain	0.9800
17:81665582:CCC:C	acceptor_gain	0.9700
17:81665583:CCC:C	acceptor_gain	0.9700
17:81666158:T:C	donor_gain	0.9700
17:81666276:CCGGG:C	donor_gain	0.9700
17:81666440:C:A	donor_gain	0.9700
17:81666481:G:A	donor_gain	0.9700
17:81665583:CC:C	acceptor_gain	0.9600
17:81665584:CC:C	acceptor_gain	0.9600
17:81666291:T:A	donor_gain	0.9600
17:81665583:CCCT:C	acceptor_loss	0.9500
17:81665586:T:G	acceptor_loss	0.9500
17:81666145:CCAA:C	donor_gain	0.9400
17:81666251:TGAGA:T	donor_gain	0.9400

AlphaMissense

946 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81665345:C:A	W100C	0.993
17:81665345:C:G	W100C	0.993
17:81665243:G:C	F134L	0.989
17:81665243:G:T	F134L	0.989
17:81665245:A:G	F134L	0.989
17:81665249:C:A	K132N	0.983
17:81665249:C:G	K132N	0.983
17:81665347:A:G	W100R	0.983
17:81665347:A:T	W100R	0.983
17:81665229:A:G	I139T	0.980
17:81665244:A:G	F134S	0.980
17:81665244:A:C	F134C	0.975
17:81665337:T:C	Y103C	0.974
17:81665337:T:G	Y103S	0.974
17:81665352:C:G	C98S	0.972
17:81665352:C:T	C98Y	0.972
17:81665353:A:T	C98S	0.972
17:81665362:A:G	C95R	0.972
17:81665353:A:G	C98R	0.970
17:81665376:C:G	C90S	0.969
17:81665377:A:T	C90S	0.969
17:81665241:A:T	L135H	0.965
17:81665377:A:G	C90R	0.965
17:81665352:C:A	C98F	0.962
17:81665373:C:G	C91S	0.962
17:81665374:A:T	C91S	0.962
17:81665338:A:C	Y103D	0.961
17:81665361:C:G	C95S	0.961
17:81665362:A:T	C95S	0.961
17:81665375:G:C	C90W	0.961

dbSNP variants (sampled 300 via entrez): RS1000030742 (17:81667578 C>A,T), RS1001800344 (17:81666015 C>T), RS1003013854 (17:81666803 G>C,T), RS1003191696 (17:81666400 G>A,T), RS1003265369 (17:81666098 CG>C), RS1004047628 (17:81666161 A>C), RS1004979889 (17:81667162 C>T), RS1006210744 (17:81665690 A>C,G), RS1008100101 (17:81666650 A>C,G), RS1008488738 (17:81668407 C>T), RS1009240512 (17:81667267 C>T), RS1009770309 (17:81666663 C>T), RS1009827502 (17:81666791 G>A,C,T), RS1010108914 (17:81665373 C>G), RS1010573363 (17:81665616 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_133	Refractive error	2.000000e-50

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression	2
GSK-J4	decreases expression	1
bufotalin	decreases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TB80	HAP1 OXLD1 (-) 1	Cancer cell line	Male
CVCL_TB81	HAP1 OXLD1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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