ABCF1

Summary

ABCF1 (ATP binding cassette subfamily F member 1, HGNC:70) is a protein-coding gene on chromosome 6p21.33, encoding ATP-binding cassette sub-family F member 1 (Q8NE71). Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. It is a common-essential gene (DepMap: required in 97.7% of cancer cell lines).

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process.

Source: NCBI Gene 23 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 128 total — 1 likely-pathogenic
• Regional missense constraint (gnomAD): 1 of 4 regions constrained (≈5% of expected missense variation)
• GTEx eGene: eQTL in 34 tissues, sQTL in 0 (q < 0.05)
• Cancer dependency (DepMap): dependent in 97.7% of screened cell lines (common-essential)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.69 (unconstrained)
• MANE Select transcript: NM_001025091
• Interaction hub: 2,118 STRING partners (top 6% of genes corpus-wide)
• Notable: 128 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:70
Approved symbol	ABCF1
Name	ATP binding cassette subfamily F member 1
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	EST123147
Ensembl gene	ENSG00000204574
Ensembl biotype	protein_coding
OMIM	603429
Entrez	23

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 21 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron

MANE Select: ENST00000326195

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1, TSL 3: 2, TSL 5: 1

ENST00000326195, ENST00000376545, ENST00000441867, ENST00000468958, ENST00000475993, ENST00000479542, ENST00000542772, ENST00000896196, ENST00000896197, ENST00000896198, ENST00000896199, ENST00000915355, ENST00000915356, ENST00000915357, ENST00000915358, ENST00000915359, ENST00000971696, ENST00000971697, ENST00000971698, ENST00000971699, ENST00001036525, ENST00001036527, ENST00001036528, ENST00001036530, ENST00001122003, ENST00001130527, ENST00001135148

RefSeq mRNA: 2 — MANE Select: NM_001025091 NM_001025091, NM_001090

CCDS: CCDS34380, CCDS34381

Canonical transcript exons

ENST00000326195 — 25 exons

Exon	Start	End
ENSE00001592750	30585260	30585343
ENSE00001603491	30580406	30580519
ENSE00001613197	30584192	30584331
ENSE00001614180	30585558	30585682
ENSE00001621859	30583066	30583188
ENSE00001625359	30577409	30577455
ENSE00001627388	30578470	30578577
ENSE00001629189	30579931	30580005
ENSE00001631627	30586134	30586305
ENSE00001638686	30584418	30584566
ENSE00001646370	30578348	30578385
ENSE00001658742	30585879	30585991
ENSE00001664739	30586474	30586548
ENSE00001705637	30586641	30586711
ENSE00001727199	30583805	30583890
ENSE00001754126	30582394	30582507
ENSE00001787262	30589806	30589974
ENSE00001790050	30589688	30589720
ENSE00001924537	30571442	30571560
ENSE00002321921	30590535	30591522
ENSE00003549661	30577818	30577913
ENSE00003589061	30590149	30590213
ENSE00003591250	30578076	30578202
ENSE00003634765	30590306	30590378
ENSE00003785200	30583608	30583708

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 95.9275 / max 1228.4589, expressed in 1826 samples.

Highest expression (Bgee): sural nerve, gastrocnemius, muscle of leg, skeletal muscle tissue, muscle tissue.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ABCF1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 34 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 34 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	4.0e-33	+0.21	6:30598843:G:C
Skin Sun Exposed Lower leg	eqtl	2.2e-27	+0.20	6:30571661:C:G
Skin Not Sun Exposed Suprapubic	eqtl	1.0e-22	+0.20	6:30507370:A:G
Cells Cultured fibroblasts	eqtl	2.5e-21	+0.40	6:30632214:C:T
Nerve Tibial	eqtl	6.1e-21	+0.23	6:30594244:G:A
Artery Tibial	eqtl	9.6e-20	+0.22	6:30573460:G:T
Esophagus Muscularis	eqtl	4.3e-15	+0.16	6:30598843:G:C
Colon Transverse	eqtl	1.4e-13	+0.18	6:30573460:G:T
Adipose Subcutaneous	eqtl	1.3e-12	+0.18	6:30611538:C:T
Esophagus Mucosa	eqtl	2.1e-10	+0.13	6:30598843:G:C
Breast Mammary Tissue	eqtl	2.9e-10	+0.19	6:30571661:C:G
Thyroid	eqtl	1.1e-09	+0.24	6:30560877:T:A
Esophagus Gastroesophageal Junction	eqtl	1.6e-09	+0.18	6:30571661:C:G
Artery Aorta	eqtl	2.9e-09	+0.29	6:30596566:C:T
Adipose Visceral Omentum	eqtl	4.9e-09	+0.13	6:30580899:T:C
Colon Sigmoid	eqtl	3.0e-08	+0.14	6:30573460:G:T
Testis	eqtl	3.3e-08	+0.39	6:30430278:A:C
Heart Left Ventricle	eqtl	1.4e-07	+0.23	6:30560877:T:A
Heart Atrial Appendage	eqtl	3.3e-06	+0.14	6:30571661:C:G
Cells EBV-transformed lymphocytes	eqtl	1.3e-05	+0.19	6:30584725:A:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
66740	95.2148	1825
66742	0.7127	390

Top tissues by expression

showing 100 of 134 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.18	gold quality
gastrocnemius	UBERON:0001388	96.03	gold quality
muscle of leg	UBERON:0001383	95.72	gold quality
skeletal muscle tissue	UBERON:0001134	95.52	gold quality
muscle tissue	UBERON:0002385	94.90	gold quality
islet of Langerhans	UBERON:0000006	94.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.98	gold quality
placenta	UBERON:0001987	93.08	gold quality
ventricular zone	UBERON:0003053	92.90	gold quality
mucosa of transverse colon	UBERON:0004991	92.83	gold quality
stromal cell of endometrium	CL:0002255	92.81	gold quality
granulocyte	CL:0000094	92.68	gold quality
skin of abdomen	UBERON:0001416	92.46	gold quality
zone of skin	UBERON:0000014	92.41	gold quality
apex of heart	UBERON:0002098	92.40	gold quality
skin of leg	UBERON:0001511	92.36	gold quality
pancreas	UBERON:0001264	92.32	gold quality
smooth muscle tissue	UBERON:0001135	91.89	gold quality
lymph node	UBERON:0000029	91.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.84	gold quality
body of stomach	UBERON:0001161	91.81	gold quality
ganglionic eminence	UBERON:0004023	91.80	gold quality
lower esophagus	UBERON:0013473	91.80	gold quality
heart left ventricle	UBERON:0002084	91.71	gold quality
vermiform appendix	UBERON:0001154	91.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.64	gold quality
testis	UBERON:0000473	91.59	gold quality
bone marrow	UBERON:0002371	91.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.52	gold quality
left testis	UBERON:0004533	91.48	gold quality
transverse colon	UBERON:0001157	91.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.31	gold quality
small intestine	UBERON:0002108	91.28	gold quality
tonsil	UBERON:0002372	91.28	gold quality
colon	UBERON:0001155	91.26	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.26	gold quality
right lobe of thyroid gland	UBERON:0001119	91.20	gold quality
duodenum	UBERON:0002114	91.20	gold quality
ectocervix	UBERON:0012249	91.20	gold quality
body of pancreas	UBERON:0001150	91.16	gold quality
upper lobe of left lung	UBERON:0008952	91.14	gold quality
stomach	UBERON:0000945	91.11	gold quality
left lobe of thyroid gland	UBERON:0001120	91.11	gold quality
right testis	UBERON:0004534	91.11	gold quality
intestine	UBERON:0000160	91.10	gold quality
esophagus	UBERON:0001043	91.10	gold quality
body of uterus	UBERON:0009853	91.08	gold quality
fundus of stomach	UBERON:0001160	91.03	gold quality
thyroid gland	UBERON:0002046	90.92	gold quality
heart	UBERON:0000948	90.86	gold quality
mucosa of stomach	UBERON:0001199	90.86	gold quality
prostate gland	UBERON:0002367	90.85	gold quality
myometrium	UBERON:0001296	90.83	gold quality
adult mammalian kidney	UBERON:0000082	90.80	gold quality
urinary bladder	UBERON:0001255	90.74	gold quality
left uterine tube	UBERON:0001303	90.71	gold quality
metanephros cortex	UBERON:0010533	90.69	gold quality
right atrium auricular region	UBERON:0006631	90.67	gold quality
uterine cervix	UBERON:0000002	90.66	gold quality
esophagus mucosa	UBERON:0002469	90.63	gold quality
minor salivary gland	UBERON:0001830	90.58	gold quality
omental fat pad	UBERON:0010414	90.56	gold quality
vagina	UBERON:0000996	90.54	gold quality
saliva-secreting gland	UBERON:0001044	90.49	gold quality
adipose tissue	UBERON:0001013	90.46	gold quality
popliteal artery	UBERON:0002250	90.44	gold quality
tibial artery	UBERON:0007610	90.44	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.37	gold quality
leukocyte	CL:0000738	90.35	gold quality
left adrenal gland	UBERON:0001234	90.32	gold quality
cortical plate	UBERON:0005343	90.32	gold quality
liver	UBERON:0002107	90.28	gold quality
kidney	UBERON:0002113	90.19	gold quality
rectum	UBERON:0001052	90.18	gold quality
monocyte	CL:0000576	90.16	gold quality
spleen	UBERON:0002106	90.14	gold quality
adrenal gland	UBERON:0002369	90.14	gold quality
lung	UBERON:0002048	90.09	gold quality
thoracic mammary gland	UBERON:0005200	90.09	gold quality
left adrenal gland cortex	UBERON:0035825	90.08	gold quality
endocervix	UBERON:0000458	90.03	gold quality
calcaneal tendon	UBERON:0003701	90.01	gold quality
right ovary	UBERON:0002118	89.97	gold quality
right adrenal gland	UBERON:0001233	89.96	gold quality
multicellular organism	UBERON:0000468	89.92	gold quality
right adrenal gland cortex	UBERON:0035827	89.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.72	gold quality
cortex of kidney	UBERON:0001225	89.63	gold quality
right lung	UBERON:0002167	89.63	gold quality
left coronary artery	UBERON:0001626	89.60	gold quality
bone marrow cell	CL:0002092	89.56	gold quality
pituitary gland	UBERON:0000007	89.55	gold quality
thoracic aorta	UBERON:0001515	89.55	gold quality
adenohypophysis	UBERON:0002196	89.55	gold quality
right lobe of liver	UBERON:0001114	89.51	gold quality
ascending aorta	UBERON:0001496	89.49	gold quality
right coronary artery	UBERON:0001625	89.41	gold quality
descending thoracic aorta	UBERON:0002345	89.31	gold quality
tibial nerve	UBERON:0001323	89.29	gold quality
ovary	UBERON:0000992	89.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.07

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Frontal cortex	tissue	51.8
Caudate putamen	tissue	50.7
Spinal cord	tissue	27.1
Corpus callosum	tissue	26.2
Vagina	tissue	25.8	medium
Hippocampal formation	tissue	25.1
Midbrain	tissue	25.0
Medulla oblongata	tissue	24.6
Superior colliculi	tissue	24.2
Cerebral cortex	tissue	24.1	medium
Bone marrow	tissue	24.1	low
Somatosensory cortex	tissue	24.1
Putamen	tissue	24.0
Thalamus	tissue	23.8
Pons	tissue	23.5
Substantia nigra	tissue	23.5
Ventral forebrain	tissue	22.6
Basal ganglia	tissue	22.5	low
Motor cortex	tissue	22.3
Pituitary gland	tissue	22.1
Occipital cortex	tissue	21.6
Prefrontal cortex	tissue	21.5
Entorhinal cortex	tissue	20.6
Temporal cortex	tissue	20.4
Hypothalamus	tissue	20.2
Retrosplenial and cingulate cortex	tissue	19.9
Retrosplenial cortex	tissue	19.6
Periaqueductal gray	tissue	19.4
Septum	tissue	19.3
Insular cortex	tissue	19.1
Skeletal muscle	tissue	18.3	medium
Olfactory bulb	tissue	17.9
Amygdala	tissue	17.5
Cerebellum	tissue	17.0	medium
Skin 1	tissue	16.7	medium
Thymus	tissue	13.7
Parathyroid gland	tissue	12.7	medium
Testis	tissue	12.6	medium
Urinary bladder	tissue	11.9	high
Adipose tissue	tissue	11.7	not detected
Small intestine	tissue	11.1	high
Stomach 1	tissue	10.8	high
Rectum	tissue	10.7	high
Tonsil	tissue	10.5	high
Retina	tissue	10.3
Pancreas	tissue	10.3	medium
Placenta	tissue	9.9	high
Locus coeruleus	tissue	9.6
Smooth muscle	tissue	9.5	low
Kidney	tissue	9.1	medium
Nucleus accumbens	tissue	7.9
Esophagus	tissue	7.5	high
Hippocampus	tissue	7.5	medium
Epididymis	tissue	7.0	low
Lymph node	tissue	6.9	high
Liver	tissue	6.9	low
Salivary gland	tissue	6.8	high
Colon	tissue	6.8	high
Postcentral gyrus	tissue	6.6
Ovary	tissue	6.5	low

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Ventral spinal cord (27.1), Blood vessel (26.5), White matter (26.2), Dorsal hippocampus (25.1), Dorsal spinal cord (24.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ABCF1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 37 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-3074-5P	98.82	66.56	1414
HSA-MIR-502-5P	98.77	66.51	906
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-4717-5P	98.19	67.97	894
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-1271-3P	97.56	64.85	865
HSA-MIR-550A-3-5P	97.56	65.35	823

Functional genomics

gnomAD constraint: pLI 7.14e-12, LOEUF 0.69, missense Z 3.38 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000326195 splits into 4 regions with different missense tolerance; 1 is missense-constrained (≈5% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
6:30,571,488–30,583,087	322 / 322.9	1.00	no
6:30,583,088–30,585,270	163 / 255.3	0.64	no
6:30,585,271–30,585,618	13 / 55.8	0.23	yes (p 1.0e-08)
6:30,585,619–30,590,698	288 / 423.5	0.68	no
DepMap (CRISPR cell-line fitness): dependent in 97.7% of screened cell lines, common-essential.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): AsPC-1 (-2.051), SW1463 (-1.934), PK-45H (-1.849), SNU-423 (-1.841), SU.86.86 (-1.825), KP-N-RT-BM-1 (-1.784), HPAF-II (-1.731), Caov-4 (-1.729), TM-87 (-1.679), SNU-213 (-1.676), SNU-308 (-1.615), NMC-G1 (-1.586), Capan-1 (-1.551), Panc 05.04 (-1.549), THP-1 (-1.526).

Literature-anchored findings (GeneRIF, showing 27)

• The data demonstrate a specific over-expression phenotype for hsp22 and suggest that hsp22 interacts with heat and oxidative stress resistance pathways. (PMID:15491684)
• We conclude that histone acetylation stimulates the transcription initiation and promotes the transcription elongation, thereby up-regulating both basal and inducible expression of hsp22 in D. melanogaster. (PMID:15607742)
• Hsp22 and Hsp23 play important roles in the recovery from chill coma in adult males, and suggest that these contribute to adaptive responses to fluctuating thermal conditions. (PMID:21112994)
• Small heat shock proteins determine synapse number and neuronal activity during development. (PMID:32437379)
• Genomic knockout of hsp23 both decreases and increases fitness under opposing thermal extremes in Drosophila melanogaster. (PMID:34562590)
• N terminus of the head protein of T4 bacteriophage directs proteins to the GroEL chaperonin (PMID:15571729)
• time-resolved fluorescence properties of the bacteriophage T4 capsid protein gp23 are investigated (PMID:15629249)
• folding of the T4 major capsid protein gp23 requires a gp31-dependent cis-folding mechanism likely inside an enlarged “Anfinsen cage” provided by GroEL and gp31 (PMID:15919824)
• structures of gp23-chaperonin complexes, showing both the initial captured state and the final, close-to-native state with gp23 encapsulated in the folding chamber (PMID:19122642)
• The distribution of g23 of T4-type bacteriophages was distinctly different among natural environments of marines, lakes and paddy fields. (PMID:21866696)
• The two critical HLA regions for susceptibility to autoimmune pancreatitis are limited to the HLA-DRB1*0405-DQB1*0401 in the class II and the ABCF1in the class I regions. (PMID:17119950)
• ABC50 N-terminal region interacts with eukaryotic initiation factor eIF2 and is a target for regulatory phosphorylation by CK2 (PMID:17894550)
• ABC50 plays a key role in translation initiation and has functions that are distinct from those of other non-membrane ABC proteins. (PMID:19570978)
• ABCF1 is a critical protein that associates with viral double-stranded DNA. (PMID:23263557)
• ABCF1 showed a significant increase in expression after escitalopram treatment. (PMID:23719290)
• A rare copy number variation of the ABCF1 gene was detected among dengue patients from Malaysia. (PMID:24634119)
• The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict Graves ophthalmology in a gender-dependent manner in patients with Graves disease in Taiwan. (PMID:24908204)
• expression of ABC50 mutants, which cannot hydrolyse ATP, decreases general translation and relaxes the discrimination against the use of non-AUG codons at translation start sites. (PMID:25597744)
• ABCF1 extrinsically regulates retinal pigment epithelial cell phagocytosis of shed photoreceptor outer segments. (PMID:25904329)
• Elevated microRNA-23a Expression Enhances the Chemoresistance of Colorectal Cancer Cells with Microsatellite Instability to 5-Fluorouracil by Directly Targeting ABCF1 (PMID:25929864)
• The high copy number variant in the ABCF1 gene was the strongest risk factor for gout. (PMID:28405828)
• The combined assessment of IGF2BP3 and ABCF1 predicts recurrence in Ewing sarcoma patients. (PMID:29703820)
• Study solves the crystal structure of an ATP-bound wild-type human ABCF1 at 2.3-A resolution. The comparative studies indicate that the structure is in a pre-activation intermediate conformation. This conformation is stabilized by the interaction between ATP and protein suggesting that this conformation is an important step in the activation of ABCF1. (PMID:30017566)
• The ATP-binding cassette transporter ABCF1 is a hepatic oncofetal protein that promotes chemoresistance, epithelial mesenchymal transformation and cancer stemness in hepatocellular carcinoma cells. (PMID:31100412)
• ABCF1 Regulates dsDNA-induced Immune Responses in Human Airway Epithelial Cells. (PMID:33042865)
• ABCF1 functions as a transcriptional coactivator for OCT4 and SOX2 to stimulate transciption of pluripotency-associated genes in embryonic stem cells. (PMID:34714667)
• ABCF1/CXCL12/CXCR4 Enhances Glioblastoma Cell Proliferation, Migration, and Invasion by Activating the PI3K/AKT Signal Pathway. (PMID:37757768)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcf1	ENSDARG00000031795
mus_musculus	Abcf1	ENSMUSG00000038762
rattus_norvegicus	Abcf1	ENSRNOG00000000799
drosophila_melanogaster	CG1703	FBGN0030321
caenorhabditis_elegans		WBGENE00006512

Paralogs (2): ABCF2 (ENSG00000033050), ABCF3 (ENSG00000161204)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1351658) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal eye morphology	1
embryonic lethality prior to organogenesis	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Escherichia coli K-12	P0A9U3	100.0%	Diamond
Escherichia coli CFT073	P0A9U4	100.0%	Diamond
Escherichia coli O157:H7	P0A9U5	100.0%	Diamond
Pongo abelii	Q5R9Z5	99.2%	Diamond
Bos taurus	Q2KJA2	97.8%	Diamond
Sus scrofa	Q767L0	94.6%	Diamond
Pan troglodytes	Q7YR37	94.6%	Diamond
Arabidopsis thaliana	Q9FIB4	81.8%	Diamond
Haemophilus influenzae Rd KW20	P44808	69.0%	Diamond
Agrobacterium tumefaciens	P12622	61.5%	Diamond
Saccharomyces cerevisiae S288C	P40024	58.3%	Diamond
Dictyostelium discoideum	Q8T6B7	57.9%	Diamond
Schizosaccharomyces pombe 972h-	O59672	55.1%	Diamond
Bacillus subtilis subsp. subtilis str. 168	O06476	44.8%	Diamond
Encephalitozoon cuniculi GB-M1	Q8SRV5	38.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
GNL1	protein-coding	2794
MRPS18B	protein-coding	28973
PPP1R10	protein-coding	5514
PRR3	protein-coding	80742
MIR877	ncRNA	100126314
ATAT1	protein-coding	79969
LINC02569	ncRNA	111082993
HLA-E	protein-coding	3133
C6orf136	protein-coding	221545
DHX16	protein-coding	8449

Protein

Protein identifiers

ATP-binding cassette sub-family F member 1 — Q8NE71 (reviewed: Q8NE71)

Alternative names: ATP-binding cassette 50, TNF-alpha-stimulated ABC protein

All UniProt accessions (6): A0A1U9X609, F5GYK6, H0YGW7, Q2L6I2, Q5STZ8, Q8NE71

UniProt curated annotations — full annotation on UniProt →

Function. Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis.

Subunit / interactions. Isoform 2 interacts (via N-terminus) with EIF2S1; the interaction is independent of its phosphorylated status. Isoform 2 associates (via both ABC transporter domains) with the ribosomes.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm. Nucleus envelope.

Tissue specificity. Ubiquitous.

Post-translational modifications. Isoform 2 is phosphorylated at phosphoserine and phosphothreonine. Isoform 2 phosphorylation on Ser-109 and Ser-140 by CK2 inhibits association of EIF2 with ribosomes.

Induction. By TNF in cultured synoviocytes.

Similarity. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NE71-1	1	yes
Q8NE71-2	2

RefSeq proteins (2): NP_001020262, NP_001081 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR050611	ABCF	Family

Pfam: PF00005

UniProt features (82 total): helix 25, strand 17, mutagenesis site 12, modified residue 9, compositionally biased region 7, domain 2, binding site 2, region of interest 2, turn 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
5ZXD	Crystal structure of ATP-bound human ABCF1	X-RAY DIFFRACTION	2.29

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NE71-F1	71.68	0.35

Human Protein Atlas

Protein class: Transporters, Primary Active Transporters, Predicted intracellular proteins, Plasma proteins, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol

Antibody reliability (HPA): IH approved · IF enhanced

Functional residue map

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

Ligand- & substrate-binding residues (2)

Position	Role
336–343	ATP
658–665	ATP

Post-translational modifications (9)

Type	Positions
Phosphoserine	22, 24, 105, 109, 140, 166, 228, 595
Phosphothreonine	108

Mutagenesis-validated functional residues (12)

Position	Phenotype
109	reduces phosphorylation. inhibits strongly phosphorylation by ck2; when associated with s-140. does not inhibit interaction with eif2; when …
140	reduces phosphorylation. inhibits strongly phosphorylation by ck2; when associated with s-109. does not inhibits interaction with eif2 …
342	does not inhibit ribosome binding. reduces atp-binding. inhibits atp-binding and reduces protein synthesis; when associated with m-664 …
367	does not inhibit ribosome binding.
454	does not inhibit ribosome binding.
477	does not inhibit ribosome binding. reduces protein synthesis; when associated with q-768.
506	does not inhibit ribosome binding.
664	does not inhibit ribosome binding. reduces atp-binding. inhibits atp-binding and reduces protein synthesis; when associated with m-342 …
695	does not inhibit ribosome binding.
745	does not inhibit ribosome binding.
768	does not inhibit ribosome binding. reduces protein synthesis; when associated with q-477.
797	does not inhibit ribosome binding.

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 2; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

2 pathways:

ID	Pathway	Evidence
R-HSA-382556	ABC-family protein mediated transport	curated
R-HSA-382551	Transport of small molecules	—

MSigDB gene sets: 156 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_TRANSLATIONAL_INITIATION, MORF_HDAC2, PATIL_LIVER_CANCER, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, MORF_RFC4, MORF_PRKDC, GRASEMANN_RETINOBLASTOMA_WITH_6P_AMPLIFICATION, GOMF_TRANSLATION_FACTOR_ACTIVITY_RNA_BINDING, MODULE_18, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, MODULE_62

GO Biological Process (4): translation (GO:0006412), translational initiation (GO:0006413), inflammatory response (GO:0006954), positive regulation of translation (GO:0045727)

GO Molecular Function (8): RNA binding (GO:0003723), ATP binding (GO:0005524), translation factor activity, RNA binding (GO:0008135), translation activator activity (GO:0008494), ATP hydrolysis activity (GO:0016887), ribosome binding (GO:0043022), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (5): nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

1 top-level categories:

Category	Pathways
Transport of small molecules	1

GO top-level categories

35 GO namespaces:

Category	Terms
cellular anatomical structure	4
translation	3
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
formation of translation initiation ternary complex	1
metabolic process	1
defense response	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
nucleic acid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
RNA binding	1
translation factor activity	1
translation regulator activity	1
positive regulation of translation	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
ribonucleoprotein complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 11 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).

11 experimentally-supported GO terms:

GO term	NS	Evidence
positive regulation of translation	BP	direct assay
translational initiation	BP	mutant phenotype
cytoplasm	CC	direct assay
cytosol	CC	direct assay
membrane	CC	high-throughput assay
nuclear envelope	CC	direct assay
nucleoplasm	CC	direct assay
ATP binding	MF	direct assay
RNA binding	MF	high-throughput assay
ribosome binding	MF	direct assay
translation activator activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 2,118 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCF1	POLR1B	Q9H9Y6	717
ABCF1	ABCE1	P61221	712
ABCF1	EEF1G	P26641	604
ABCF1	OAZ1	P54368	588
ABCF1	ABCD4	O14678	586
ABCF1	ABCB7	O75027	575
ABCF1	ALAS1	P13196	574
ABCF1	EIF2B4	Q9UI10	563
ABCF1	ABCG5	Q9H222	512
ABCF1	ABCC11	Q96J66	490
ABCF1	ABCA3	Q99758	487
ABCF1	TBP	P20226	482
ABCF1	STK11IP	Q8N1F8	481
ABCF1	POLR2A	P24928	480
ABCF1	TCF19	Q9Y242	477

IntAct

Human interaction partners of ABCF1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

15 partners by confidence:

Partner	Interaction type	MIscore	Records
ENG	direct interaction	0.440	1
SRPK1	phosphorylation reaction	0.440	1
CCDC181	physical association	0.400	1
H2AZ1	physical association	0.400	1
H2BC9	physical association	0.400	1
H3-4	physical association	0.400	1
HMGN2	physical association	0.400	1
PCSK4	physical association	0.400	1
S	physical association	0.400	1
ITGB3BP	physical association	0.000	1
LCOR	physical association	0.000	1
LYAR	physical association	0.000	1
PINX1	physical association	0.000	1
PRKAB1	physical association	0.000	1
RPGRIP1L	physical association	0.000	1

BioGRID (270 interactions; top human partners by supporting records): APP (Reconstituted Complex; 2 records), BRD4 (Affinity Capture-MS; 2 records), CCNF (Affinity Capture-MS; 2 records), CHD4 (Affinity Capture-MS; 2 records), EED (Affinity Capture-MS; 2 records), HIST1H2BH (Cross-Linking-MS (XL-MS); 2 records), HSPA1A (Proximity Label-MS; 2 records), IFI16 (Affinity Capture-MS; 2 records), MYC (Affinity Capture-MS; 2 records), OBSL1 (Affinity Capture-MS; 2 records), PARK2 (Affinity Capture-MS; 2 records), RPL37A (Cross-Linking-MS (XL-MS); 2 records), SNCA (Proximity Label-MS; 2 records), STK4 (Proximity Label-MS; 2 records), SYK (Affinity Capture-Western; 2 records)

SIGNOR signaling

showing 1 of 2 signaling interactions:

A	Effect	B	Mechanism
CSNK2A1	unknown	ABCF1	phosphorylation

Disease & clinical

Genetic variants

Variant evidence for ABCF1: 128 ClinVar records (1 pathogenic / likely pathogenic); 20 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	85
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
974733	NC_000006.11:g.28005012_31683185del	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore ABCF1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 1,295):

Position(s)	Effect	Δscore	Sites
6:30571561–30571562	donor_loss	1.0000	5
6:30577816–30577817	acceptor_loss	1.0000	3
6:30577914–30577915	donor_loss	1.0000	4
6:30578064	acceptor_gain	1.0000
6:30578071–30578075	acceptor_loss	1.0000	10
6:30578203–30578204	donor_loss	1.0000	4
6:30578468–30578469	acceptor_loss	1.0000	5
6:30578578–30578579	donor_loss	1.0000	3
6:30579996	donor_gain	1.0000
6:30580402	acceptor_gain	1.0000

AlphaMissense

2,529 missense substitutions predicted likely pathogenic (of 5,558 scored), across 542 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M458	9	0.985	0.999
M539	9	0.972	0.997
M444	9	0.875	0.981
D476	8	1.000	1.000
D483	8	1.000	1.000
H506	8	1.000	1.000
H797	8	1.000	1.000
D767	8	0.999	1.000
D774	8	0.999	1.000
F440	8	0.997	1.000
F510	8	0.996	1.000
D798	8	0.996	0.999
D507	8	0.995	0.999
N338	8	0.993	1.000
D303	8	0.992	0.998
H481	8	0.992	0.999
H736	8	0.992	0.999
N480	8	0.991	1.000
N771	8	0.990	1.000
N660	8	0.989	1.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Colon Adenocarcinoma (TCGA)	favorable	7.2e-05

Disease associations

OMIM: gene MIM:603429 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): megacolon (MONDO:0001273)

GWAS associations

20 associations:

Study	Trait	p-value
GCST004521_15	Autism spectrum disorder or schizophrenia	1e-22
GCST008575_4	IgM levels	3e-20
GCST004521_4	Autism spectrum disorder or schizophrenia	8e-20
GCST004521_70	Autism spectrum disorder or schizophrenia	6e-18
GCST004521_265	Autism spectrum disorder or schizophrenia	3e-17
GCST004521_38	Autism spectrum disorder or schizophrenia	7e-17
GCST004521_218	Autism spectrum disorder or schizophrenia	1e-16
GCST004521_153	Autism spectrum disorder or schizophrenia	2e-16
GCST004521_85	Autism spectrum disorder or schizophrenia	5e-16
GCST004521_154	Autism spectrum disorder or schizophrenia	2e-15
GCST004521_268	Autism spectrum disorder or schizophrenia	3e-15
GCST004521_86	Autism spectrum disorder or schizophrenia	5e-15
GCST004521_87	Autism spectrum disorder or schizophrenia	5e-15
GCST004521_122	Autism spectrum disorder or schizophrenia	4e-14
GCST004521_40	Autism spectrum disorder or schizophrenia	7e-14
GCST004521_272	Autism spectrum disorder or schizophrenia	3e-13
GCST004521_44	Autism spectrum disorder or schizophrenia	7e-11
GCST004521_183	Autism spectrum disorder or schizophrenia	2e-9
GCST003124_1	Mild influenza (H1N1) infection	1e-8
GCST006269_592	General cognitive ability	3e-8

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004337	intelligence

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D008531	Megacolon	C06.405.469.158.701

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724742 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
bisphenol F	affects cotreatment, decreases expression, increases expression	2
bisphenol S	affects cotreatment, increases methylation, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
tetrahydropalmatine	decreases expression	1
sodium arsenite	decreases expression, increases activity	1
ferrous sulfate	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
cupric oxide	decreases expression	1
1-nitropyrene	increases expression	1
beta-methylcholine	affects expression	1
arsenic trisulfide	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Atrazine	decreases expression	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650812	Binding	Binding affinity to human ABCF1 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

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_F4KY	HyCyte CT26 mKRAS_p.G12C_c.566G＞T cell line	Cancer cell line	Male
CVCL_F4KZ	HyCyte CT26 mKRAS_p.G12C_c.567G＞T cell line	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 70 trials:

NCT	Phase	Status	Title
NCT02513940	Phase 4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	Phase 4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	Phase 4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	Phase 4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	Phase 2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	Phase 2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	Phase 2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	Phase 1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	Phase 1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	Phase 1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	Phase 1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	Phase 1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	Phase 1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	Phase 1/2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy
NCT00588965	Not specified	COMPLETED	Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925	Not specified	COMPLETED	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564	Not specified	COMPLETED	Fetal and Neonatal Magnetophysiology
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189	Not specified	COMPLETED	The Canadian National Long QT Syndrome Registry
NCT02439645	Not specified	TERMINATED	A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658	Not specified	UNKNOWN	Genetics of QT Prolongation With Antiarrhythmics
NCT02549664	Not specified	COMPLETED	Exercise in Genetic Cardiovascular Conditions
NCT02581241	Not specified	COMPLETED	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080	Not specified	COMPLETED	Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513	Not specified	UNKNOWN	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981	Not specified	UNKNOWN	Hydroxyzine and Risk of Prolongation of QT Interval
NCT02876380	Not specified	COMPLETED	Prospective Identification of Long QT Syndrome in Fetal Life
NCT02931695	Not specified	COMPLETED	Ventricular Repolarization During the Pregnancy-to-Postpartum Transition (QuTe)
NCT03182777	Not specified	COMPLETED	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918	Not specified	COMPLETED	Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort
NCT03642405	Not specified	UNKNOWN	Drug-induced Repolarization ECG Changes
NCT03678311	Not specified	COMPLETED	Long QT Syndrome and Sleep Apnea
NCT03775954	Not specified	RECRUITING	Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise
NCT03783975	Not specified	TERMINATED	KCNQ1 Cascade Screening
NCT03868657	Not specified	COMPLETED	The Physiological Effects of Human Ether-a-go-go-Related Gene (hERG)Blockade on Metabolism
NCT04074122	Not specified	UNKNOWN	Electromechanical Profiling of the Long-QT Syndrome (LQTS)
NCT04124237	Not specified	COMPLETED	Long Term Monitoring for Risk of Sudden Death
NCT04189822	Not specified	ENROLLING_BY_INVITATION	Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank
NCT04328376	Not specified	COMPLETED	Measurement of the Electromechanical Window to Improve the Diagnosis of Congenital Long QT Syndrome
NCT04336644	Not specified	RECRUITING	Continuous Versus Intermittent cARdiac Electrical moNitorinG
NCT04441892	Not specified	TERMINATED	Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care
NCT04650009	Not specified	COMPLETED	Physical Activity in Children With Inherited Cardiac Diseases
NCT04699097	Not specified	COMPLETED	The Effect of Azithromycin Use on Conduction System of Heart in COVID-19 Positive Children
NCT04706104	Not specified	COMPLETED	QT Measurement Techniques and Anesthesia Management
NCT04712136	Not specified	COMPLETED	Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations
NCT04715256	Not specified	UNKNOWN	Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
NCT04728100	Not specified	COMPLETED	LQT and Smartphone/Smartwatch
NCT05274646	Not specified	COMPLETED	Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A
NCT05348564	Not specified	RECRUITING	Comparing Direct vs Indirect Methods for Cascade Screening
NCT05521451	Not specified	RECRUITING	Clinical Cohort Study - TRUST
NCT05903313	Not specified	UNKNOWN	A Study to Evaluate Accuracy and Validity of the Chang Gung ECG Abnormality Detection Software

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for ABCF1 across ~30M SureChEMBL compounds — explore on Sugi Predict.