QRSL1

Summary

QRSL1 (glutaminyl-tRNA amidotransferase subunit QRSL1, HGNC:21020) is a protein-coding gene on chromosome 6q21, encoding Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial (Q9H0R6). Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. It is a selective cancer dependency (DepMap: 45.2% of cell lines).

Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40.

Source: NCBI Gene 55278 — RefSeq curated summary.

At a glance

• Gene–disease (curated): combined oxidative phosphorylation deficiency 40 (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 182 total — 7 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 17
• Cancer dependency (DepMap): dependent in 45.2% of screened cell lines
• MANE Select transcript: NM_018292

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21020
Approved symbol	QRSL1
Name	glutaminyl-tRNA amidotransferase subunit QRSL1
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447, GATA
Ensembl gene	ENSG00000130348
Ensembl biotype	protein_coding
OMIM	617209
Entrez	55278

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369044, ENST00000369046, ENST00000467262, ENST00000893160, ENST00000893161, ENST00000929844, ENST00000929845, ENST00000971597, ENST00000971598

RefSeq mRNA: 1 — MANE Select: NM_018292 NM_018292

CCDS: CCDS5057

Canonical transcript exons

ENST00000369046 — 11 exons

Exon	Start	End
ENSE00000761399	106662980	106663185
ENSE00000761409	106655615	106655732
ENSE00000761439	106654730	106654922
ENSE00000761479	106652209	106652384
ENSE00000761481	106649025	106649201
ENSE00000895047	106642994	106643090
ENSE00000895055	106640823	106640921
ENSE00000974866	106652467	106652582
ENSE00001448699	106665782	106668417
ENSE00001448705	106629578	106629705
ENSE00003538909	106640349	106640508

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 90.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.4227 / max 204.9543, expressed in 1798 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69142	14.2442	1782
69143	3.9648	1589
69144	1.2137	711

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	90.83	gold quality
triceps brachii	UBERON:0001509	90.72	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.70	gold quality
diaphragm	UBERON:0001103	89.88	gold quality
vastus lateralis	UBERON:0001379	87.35	gold quality
gluteal muscle	UBERON:0002000	87.08	silver quality
muscle organ	UBERON:0001630	85.80	gold quality
gastrocnemius	UBERON:0001388	85.72	gold quality
quadriceps femoris	UBERON:0001377	85.71	gold quality
muscle of leg	UBERON:0001383	85.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.58	gold quality
skeletal muscle tissue	UBERON:0001134	85.54	gold quality
heart right ventricle	UBERON:0002080	85.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.09	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.11	gold quality
muscle tissue	UBERON:0002385	83.63	gold quality
lymph node	UBERON:0000029	83.34	gold quality
deltoid	UBERON:0001476	82.79	gold quality
adrenal tissue	UBERON:0018303	82.26	gold quality
ventricular zone	UBERON:0003053	81.83	gold quality
ganglionic eminence	UBERON:0004023	81.66	gold quality
colonic mucosa	UBERON:0000317	81.57	gold quality
embryo	UBERON:0000922	81.52	gold quality
heart left ventricle	UBERON:0002084	81.51	gold quality
cardiac ventricle	UBERON:0002082	81.46	gold quality
superficial temporal artery	UBERON:0001614	81.34	gold quality
oocyte	CL:0000023	80.88	gold quality
rectum	UBERON:0001052	80.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	80.87	gold quality
calcaneal tendon	UBERON:0003701	80.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88
E-MTAB-6142	no	113.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting QRSL1, 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-126-5P	100.00	72.71	3180
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4671-3P	99.88	72.46	1045

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 45.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB. (PMID:19805282)
• Homozygous intronic variant (c.850-3A > G) in the QRSL1 was identified in a child with cardiomyopathy with early-onset brain disease. (PMID:29440775)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	qrsl1	ENSDARG00000032704
mus_musculus	Qrsl1	ENSMUSG00000019863
rattus_norvegicus	Qrsl1	ENSRNOG00000026049
drosophila_melanogaster	GatA	FBGN0260779
caenorhabditis_elegans		WBGENE00021508

Paralogs (2): FAAH (ENSG00000117480), FAAH2 (ENSG00000165591)

Protein

Protein identifiers

Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial — Q9H0R6 (reviewed: Q9H0R6)

Alternative names: Glutaminyl-tRNA synthase-like protein 1

All UniProt accessions (2): Q9H0R6, X6R772

UniProt curated annotations — full annotation on UniProt →

Function. Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).

Subunit / interactions. Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.

Subcellular location. Mitochondrion.

Disease relevance. Combined oxidative phosphorylation deficiency 40 (COXPD40) [MIM:618835] An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the amidase family. GatA subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H0R6-1	1	yes
Q9H0R6-2	2

RefSeq proteins (1): NP_060762* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000120	Amidase	Family
IPR004412	GatA	Family
IPR023631	Amidase_dom	Domain
IPR036928	AS_sf	Homologous_superfamily

Pfam: PF01425

Enzyme classification (BRENDA):

• EC 6.3.5.7 — glutaminyl-tRNA synthase (glutamine-hydrolysing) (BRENDA: 16 organisms, 27 substrates, 24 inhibitors, 26 Km, 23 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GLU-TRNAGLN	0.0004–0.0024	6
GLN	0.01–0.0509	5
ATP	0.117–0.2068	2
L-GLUTAMINE	0.16–1.2	2
L-GLUTAMYL-TRNAGLN	0.19–5.6	2
ASP-TRNAASN	0.0009	1
ASP-TRNAGLN	0.0012	1
L-ASPARTYL-TRNAASN	0.0224	1
L-GLUTAMYL-TRNAGLU	0.0002	1
TRNAGLN1(UUG)	0.0054	1
TRNAGLN2(CUG)	0.0013	1
TRNAGLU	0.0036	1

Catalyzed reactions (Rhea), 1 shown:

• L-glutamyl-tRNA(Gln) + L-glutamine + ATP + H2O = L-glutaminyl-tRNA(Gln) + L-glutamate + ADP + phosphate + H(+) (RHEA:17521)

UniProt features (17 total): sequence variant 7, sequence conflict 3, active site 3, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0R6-F1	93.40	0.89

Functional residue map

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

Catalytic / active sites (3): 76 (charge relay system); 171 (charge relay system); 195 (acyl-ester intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, ELVIDGE_HYPOXIA_DN, GOBP_AMINO_ACID_ACTIVATION, GOBP_TRNA_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GARY_CD5_TARGETS_DN, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOMF_LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS, OSMAN_BLADDER_CANCER_DN, STEIN_ESRRA_TARGETS_UP, GOMF_CARBON_NITROGEN_LIGASE_ACTIVITY_WITH_GLUTAMINE_AS_AMIDO_N_DONOR, GOMF_ADENYL_NUCLEOTIDE_BINDING, BRUINS_UVC_RESPONSE_LATE

GO Biological Process (4): regulation of protein stability (GO:0031647), mitochondrial translation (GO:0032543), glutaminyl-tRNAGln biosynthesis via transamidation (GO:0070681), translation (GO:0006412)

GO Molecular Function (7): ATP binding (GO:0005524), glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity (GO:0050567), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), ligase activity (GO:0016874), carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)

GO Cellular Component (2): mitochondrion (GO:0005739), glutamyl-tRNA(Gln) amidotransferase complex (GO:0030956)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of biological quality	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
tRNA aminoacylation	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
carbon-nitrogen ligase activity, with glutamine as amido-N-donor	1
catalytic activity, acting on a tRNA	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
catalytic activity	1
ligase activity, forming carbon-nitrogen bonds	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular protein-containing complex	1
catalytic complex	1

Protein interactions and networks

STRING

2986 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
QRSL1	GATB	O75879	991
QRSL1	GATC	O43716	982
QRSL1	LDB1	Q86U70	800
QRSL1	GATA2	P23769	785
QRSL1	LMO2	P25791	783
QRSL1	LDB2	O43679	777
QRSL1	GATA4	P43694	653
QRSL1	EARS2	Q5JPH6	647
QRSL1	GATA1	P15976	633
QRSL1	GATA6	P78327	630
QRSL1	TBX5	Q99593	626
QRSL1	ZFPM1	Q8IX07	603
QRSL1	GATA5	Q9BWX5	596
QRSL1	AARS1	P49588	594
QRSL1	GATA3	P23771	590

IntAct

49 interactions, top by confidence:

A	B	Type	Score
ASH2L	KMT2D	psi-mi:“MI:0914”(association)	0.890
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
QRSL1	GATC	psi-mi:“MI:0915”(physical association)	0.790
GATC	QRSL1	psi-mi:“MI:0407”(direct interaction)	0.790
QRSL1	GATB	psi-mi:“MI:0915”(physical association)	0.790
QRSL1	GATB	psi-mi:“MI:0914”(association)	0.790
GATC	GATB	psi-mi:“MI:0914”(association)	0.640
GATC	NME4	psi-mi:“MI:0914”(association)	0.530
USP47	DENR	psi-mi:“MI:0914”(association)	0.530
GPBP1L1	CNOT1	psi-mi:“MI:0914”(association)	0.530
KRT8	QRSL1	psi-mi:“MI:0915”(physical association)	0.370
XRCC6	QRSL1	psi-mi:“MI:0915”(physical association)	0.370
QRSL1	MICAL1	psi-mi:“MI:0915”(physical association)	0.370
QRSL1	PPBP	psi-mi:“MI:0915”(physical association)	0.370
GPBP1L1	CNOT1	psi-mi:“MI:0914”(association)	0.350
ARSG	YDJC	psi-mi:“MI:0914”(association)	0.350
APOA2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
USP47	LAMTOR5	psi-mi:“MI:0914”(association)	0.350
DOK4	SHTN1	psi-mi:“MI:0914”(association)	0.350
AHR	SHTN1	psi-mi:“MI:0914”(association)	0.350
ANKRD49	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
QRSL1	VWA8	psi-mi:“MI:0914”(association)	0.350
FAHD1	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (123): QRSL1 (Affinity Capture-MS), QRSL1 (Affinity Capture-MS), GATB (Affinity Capture-MS), QRSL1 (Affinity Capture-MS), QRSL1 (Affinity Capture-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS), QRSL1 (Proximity Label-MS)

ESM2 similar proteins: A4QR60, A8N8S3, B0BAY9, B0WAE3, B2ATX1, B2S4Q7, B6U151, B7PDC5, C0NYZ7, C4YRY0, C5P3I5, C5Y8Z8, C7YSE7, D5GIH1, E0CTY1, E2QUD0, F1QAJ4, F7A3P2, J9VYP5, O83983, O84006, O94509, P07244, Q03557, Q0VFI5, Q17H91, Q17WM2, Q25A68, Q29BT3, Q29RP9, Q2GEE7, Q3KN19, Q4P5V8, Q4R7R9, Q4WEY4, Q5AK64, Q5AQN0, Q5FWT5, Q6C0M4, Q75D84

Diamond homologs: A0A0B4FAW4, A0A0B4GDU5, A0A0B4H2J9, A0A0B4HM53, A0A1L9WLL5, A0A2I1C3Z1, A0A411PQN4, A0A4P8DJH6, A0A5B8YW48, A0LSR0, A1WVR7, A4X490, A5CEC8, A5GKM7, A5GTM0, A5UXF9, A6VH97, A6W7L7, A7NKM0, A8M5E6, B0C269, B0JSX3, B0K3S3, B0KBN4, B0WAE3, B1I3K2, B1WYP3, B1XJG8, B1YM01, B2A5W7, B2IYD7, B5ED19, B7K0I2, B7KLL5, B7PDC5, B8HY89, C1D1L2, C4L690, C4Z3J4, C4ZHB9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
QRSL1	“form complex”	“Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	3
Uncertain significance	77
Likely benign	46
Benign	31

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
3653261	NM_018292.5(QRSL1):c.498del (p.Leu166_Ile167insTer)	Pathogenic
4774925	NM_018292.5(QRSL1):c.893G>A (p.Trp298Ter)	Pathogenic
4811199	NM_018292.5(QRSL1):c.742del (p.Ala248fs)	Pathogenic
559413	NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	Pathogenic
559415	NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA (p.Thr196_Pro199delinsAsnLysAsnHis)	Pathogenic
834718	NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)	Pathogenic
834719	NM_018292.5(QRSL1):c.850-3A>G	Pathogenic
3067593	NM_018292.5(QRSL1):c.600del (p.Ala201fs)	Likely pathogenic
3617530	NM_018292.5(QRSL1):c.557+1G>A	Likely pathogenic
3780516	NM_018292.5(QRSL1):c.45del (p.Gly16fs)	Likely pathogenic

SpliceAI

2037 predictions. Top by Δscore:

Variant	Effect	Δscore
6:106640504:GAATG:G	donor_gain	1.0000
6:106643088:GGG:G	donor_gain	1.0000
6:106643088:GGGGT:G	donor_loss	1.0000
6:106643089:GG:G	donor_gain	1.0000
6:106643089:GGG:G	donor_gain	1.0000
6:106643090:GG:G	donor_gain	1.0000
6:106643091:G:GC	donor_loss	1.0000
6:106643092:TAA:T	donor_loss	1.0000
6:106649200:GC:G	donor_gain	1.0000
6:106649202:G:GG	donor_gain	1.0000
6:106650688:T:G	donor_gain	1.0000
6:106652381:T:G	donor_gain	1.0000
6:106655610:TTCA:T	acceptor_loss	1.0000
6:106655612:CAG:C	acceptor_loss	1.0000
6:106655613:A:AG	acceptor_gain	1.0000
6:106655613:AGGT:A	acceptor_loss	1.0000
6:106655614:G:GG	acceptor_gain	1.0000
6:106655696:G:GT	donor_gain	1.0000
6:106655711:G:GT	donor_gain	1.0000
6:106655712:A:T	donor_gain	1.0000
6:106655730:AGA:A	donor_gain	1.0000
6:106655731:GA:G	donor_gain	1.0000
6:106655731:GAG:G	donor_gain	1.0000
6:106655733:G:GG	donor_gain	1.0000
6:106629703:GAA:G	donor_gain	0.9900
6:106629706:G:GG	donor_gain	0.9900
6:106629745:A:T	donor_gain	0.9900
6:106629831:GGGGA:G	donor_gain	0.9900
6:106629832:GGGA:G	donor_gain	0.9900
6:106629833:GGA:G	donor_gain	0.9900

AlphaMissense

3423 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:106640865:A:T	K76I	0.999
6:106649155:A:C	S171R	0.999
6:106649157:C:A	S171R	0.999
6:106649157:C:G	S171R	0.999
6:106640902:T:G	C88W	0.998
6:106640866:A:C	K76N	0.997
6:106640866:A:T	K76N	0.997
6:106649167:A:C	S175R	0.997
6:106649169:T:A	S175R	0.997
6:106649169:T:G	S175R	0.997
6:106652222:G:C	D191H	0.997
6:106652223:A:T	D191V	0.997
6:106652278:A:C	K209N	0.997
6:106652278:A:T	K209N	0.997
6:106652333:G:C	D228H	0.997
6:106652493:G:C	D254H	0.997
6:106655711:G:A	G380E	0.997
6:106640867:G:C	D77H	0.996
6:106640906:T:C	S90P	0.996
6:106649164:G:T	G174W	0.996
6:106652222:G:T	D191Y	0.996
6:106652242:A:C	R197S	0.996
6:106652242:A:T	R197S	0.996
6:106655667:A:C	R365S	0.996
6:106655667:A:T	R365S	0.996
6:106655711:G:T	G380V	0.996
6:106663178:T:A	N453K	0.996
6:106663178:T:G	N453K	0.996
6:106640900:T:C	C88R	0.995
6:106640901:G:A	C88Y	0.995

dbSNP variants (sampled 300 via entrez): RS1000110281 (6:106645234 C>G), RS1000327489 (6:106632391 T>A), RS1000415521 (6:106637416 A>G), RS1000474045 (6:106657460 C>G,T), RS1000527613 (6:106657129 C>T), RS1000552900 (6:106650877 A>G), RS1000690257 (6:106631578 C>T), RS1000749930 (6:106664045 T>C), RS1000762789 (6:106644166 C>T), RS1000974296 (6:106650242 A>G), RS1001221417 (6:106657734 C>G), RS1001222644 (6:106649767 T>C), RS1001233617 (6:106636521 G>A,C,T), RS1001274890 (6:106650235 A>G), RS1001297511 (6:106665372 C>T)

Disease associations

OMIM: gene MIM:617209 | disease phenotypes: MIM:618835

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 40	Strong	Autosomal recessive

Mondo (1): combined oxidative phosphorylation deficiency 40 (MONDO:0030006)

Orphanet (1): QRSL1-related combined oxidative phosphorylation defect (Orphanet:570491)

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0001410	Decreased liver function
HP:0001511	Intrauterine growth retardation
HP:0001522	Death in infancy
HP:0001622	Premature birth
HP:0001639	Hypertrophic cardiomyopathy
HP:0001790	Nonimmune hydrops fetalis
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0003128	Lactic acidosis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003811	Neonatal death
HP:0008163	Decreased circulating cortisol level
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0011923	Decreased activity of mitochondrial complex I
HP:0011924	Decreased activity of mitochondrial complex III

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003518_17	Daytime sleep phenotypes	8.000000e-06
GCST012276_8	Clostridioides difficle infection in antibiotics-users	4.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0009130	clostridium difficile infection

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
sodium arsenite	decreases expression	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Formaldehyde	decreases expression	1
Dronabinol	increases expression	1
Thiram	decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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