FUNDC1

Summary

FUNDC1 (FUN14 domain containing 1, HGNC:28746) is a protein-coding gene on chromosome Xp11.3, encoding FUN14 domain-containing protein 1 (Q8IVP5). Integral mitochondrial outer-membrane protein that mediates the formation of mitochondria-associated endoplasmic reticulum membranes (MAMs).

This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known.

Source: NCBI Gene 139341 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 37 total
• Druggable target: yes
• MANE Select transcript: NM_173794

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28746
Approved symbol	FUNDC1
Name	FUN14 domain containing 1
Location	Xp11.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC51029
Ensembl gene	ENSG00000069509
Ensembl biotype	protein_coding
OMIM	300871
Entrez	139341

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000378045, ENST00000483115, ENST00000885822, ENST00000950132

RefSeq mRNA: 1 — MANE Select: NM_173794 NM_173794

CCDS: CCDS14263

Canonical transcript exons

ENST00000378045 — 5 exons

Exon	Start	End
ENSE00000847702	44541945	44542101
ENSE00001476015	44523639	44524275
ENSE00001476036	44542805	44542859
ENSE00003574920	44527237	44527365
ENSE00003614597	44538467	44538542

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 96.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8033 / max 328.5775, expressed in 1776 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199006	9.4177	1643
199008	2.6204	1296
199007	1.1198	721
199005	0.6455	357

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	96.97	gold quality
pons	UBERON:0000988	96.90	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.60	gold quality
palpebral conjunctiva	UBERON:0001812	93.89	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.75	gold quality
myocardium	UBERON:0002349	93.69	gold quality
oocyte	CL:0000023	93.46	gold quality
hypothalamus	UBERON:0001898	93.30	gold quality
anterior cingulate cortex	UBERON:0009835	93.18	gold quality
nucleus accumbens	UBERON:0001882	93.11	gold quality
superior vestibular nucleus	UBERON:0007227	93.11	gold quality
putamen	UBERON:0001874	93.04	gold quality
caudate nucleus	UBERON:0001873	93.00	gold quality
substantia nigra pars compacta	UBERON:0001965	92.87	gold quality
secondary oocyte	CL:0000655	92.72	gold quality
substantia nigra	UBERON:0002038	92.71	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.52	gold quality
heart right ventricle	UBERON:0002080	92.44	gold quality
midbrain	UBERON:0001891	92.42	gold quality
dorsal root ganglion	UBERON:0000044	92.41	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.28	gold quality
esophagus squamous epithelium	UBERON:0006920	92.09	gold quality
amygdala	UBERON:0001876	91.97	gold quality
prefrontal cortex	UBERON:0000451	91.93	gold quality
pigmented layer of retina	UBERON:0001782	91.85	gold quality
cerebellar vermis	UBERON:0004720	91.85	gold quality
germinal epithelium of ovary	UBERON:0001304	91.64	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.58	gold quality
epithelial cell of pancreas	CL:0000083	91.54	gold quality
calcaneal tendon	UBERON:0003701	91.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6524	no	98.56
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting FUNDC1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863

Literature-anchored findings (GeneRIF, showing 27)

• Data show that Knockdown of endogenous FUNDC1 significantly prevented hypoxia-induced mitophagy, which could be reversed by the expression of wild-type FUNDC1. (PMID:22267086)
• FUNDC1 regulates ULK1 recruitment to damaged mitochondria, where FUNDC1 phosphorylation by ULK1 is crucial for mitophagy. (PMID:24671035)
• The BCL2L1-PGAM5-FUNDC1 axis is critical for receptor-mediated mitophagy. (PMID:25126723)
• FUNDC1 regulates both mitochondrial fission or fusion and mitophagy. (PMID:27050458)
• FUNDC1 integrates mitochondrial fission and mitophagy at the interface of the endoplasmic reticulum-mitochondrial contact site by working in concert with DRP1 and calnexin under hypoxic conditions in mammalian cells. (PMID:27145933)
• phosphorylation of Tyr18 of FUNDC1 serves as a molecular switch for mitophagy. (PMID:27653272)
• structural and biochemical results reveal a working model for the specific recognition of FUNDC1 by LC3B and imply that the reversible phosphorylation modification of mitophagy receptors may be a switch for selective mitophagy. (PMID:27757847)
• MARCH5 directly interacts with FUNDC1 to mediate its ubiquitylation at lysine 119 for subsequent degradation. (PMID:28104734)
• Our data suggested that FUNDC1 can be used as a prognostic biomarker in patients with cervical cancer, and may be a new therapeutic target to improve the antitumor effects of chemoradiotherapy. (PMID:28719148)
• accumulates in most hepatocellular carcinomas (PMID:30053328)
• Elevated FUNDC1 levelcould stimulate human breast cancer proliferation and migration via Ca2+influxas well as NFATC1 activation and translocation into the nucleus, whichfurther binds and activates BMI1 transcription. The positive relationshipbetween FUNDC1 and BMI1 expression further predicts worse progres-sion of breast cancer. (PMID:30803933)
• Silencing FUNDC1 alleviates chronic obstructive pulmonary disease by inhibiting mitochondrial autophagy and bronchial epithelium cell apoptosis under hypoxic environment. (PMID:31237014)
• Dynamic PGAM5 multimers dephosphorylate BCL-xL or FUNDC1 to regulate mitochondrial and cellular fate. (PMID:31367011)
• The mitophagy effector FUNDC1 controls mitochondrial reprogramming and cellular plasticity in cancer cells. (PMID:32723812)
• MicroRNA137 exerts protective effects on hypoxiainduced cell injury by inhibiting autophagy/mitophagy and maintaining mitochondrial function in breast cancer stemlike cells. (PMID:32945512)
• FUNDC1-dependent mitochondria-associated endoplasmic reticulum membranes are involved in angiogenesis and neoangiogenesis. (PMID:33972548)
• USP19 promotes hypoxia-induced mitochondrial division via FUNDC1 at ER-mitochondria contact sites. (PMID:33978709)
• Increased FUN14 domain containing 1 (FUNDC1) ubiquitination level inhibits mitophagy and alleviates the injury in hypoxia-induced trophoblast cells. (PMID:34699308)
• CircFUNDC1 knockdown alleviates oxygen-glucose deprivation-induced human brain microvascular endothelial cell injuries by inhibiting PTEN via miR-375. (PMID:34906568)
• FUNDC1 Induces Apoptosis and Autophagy Under Oxidative Stress via PI3K/Akt/mTOR Pathway in Cataract Lens Cells. (PMID:35179404)
• Vaspin Attenuates Atrial Abnormalities by Promoting ULK1/FUNDC1-Mediated Mitophagy. (PMID:36425056)
• FUNDC1 interacts with GPx4 to govern hepatic ferroptosis and fibrotic injury through a mitophagy-dependent manner. (PMID:36828120)
• FUNDC1: An Emerging Mitochondrial and MAMs Protein for Mitochondrial Quality Control in Heart Diseases. (PMID:37298100)
• Neutrophil extracellular traps aggravate intestinal epithelial necroptosis in ischaemia-reperfusion by regulating TLR4/RIPK3/FUNDC1-required mitophagy. (PMID:37691112)
• Integration of FUNDC1-associated mitochondrial protein import and mitochondrial quality control contributes to TDP-43 degradation. (PMID:37951930)
• [FUNDC1 promotes the formation of MAMs involved in angiogenesis]. (PMID:38411432)
• Mitophagy mediated by HIF-1alpha/FUNDC1 signaling in tubular cells protects against renal ischemia/reperfusion injury. (PMID:38584135)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fundc1	ENSDARG00000040822
mus_musculus	Fundc1	ENSMUSG00000025040
rattus_norvegicus	Fundc1	ENSRNOG00000003470
caenorhabditis_elegans		WBGENE00011528

Paralogs (1): FUNDC2 (ENSG00000165775)

Protein

Protein identifiers

FUN14 domain-containing protein 1 — Q8IVP5 (reviewed: Q8IVP5)

All UniProt accessions (1): Q8IVP5

UniProt curated annotations — full annotation on UniProt →

Function. Integral mitochondrial outer-membrane protein that mediates the formation of mitochondria-associated endoplasmic reticulum membranes (MAMs). In turn, mediates angiogenesis and neoangiogenesis through interference with intracellular Ca(2+) communication and regulation of the vascular endothelial growth factor receptor KDR/VEGFR2 expression at both mRNA and protein levels. Also acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality and homeostasis, by interacting with and recruiting LC3 protein family to mitochondria. Mechanistically, recruits DRP1 at ER-mitochondria contact sites leading to DRP1 oligomerization and GTPase activity to facilitate mitochondrial fission during hypoxia. Additionally, plays a role in hepatic ferroptosis by interacting directly with glutathione peroxidase/GPX4 to facilitate its recruitment into mitochondria through TOM/TIM complex where it is degraded by mitophagy.

Subunit / interactions. Interacts (via YXXL motif) with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP. Interacts with DNM1L/DPR1. Interacts with GPX4.

Subcellular location. Mitochondrion outer membrane.

Tissue specificity. Widely expressed.

Post-translational modifications. Phosphorylation at Ser-13 by CK2 and at Tyr-18 by SRC inhibits activation of mitophagy. Following hypoxia, dephosphorylated at Tyr-18, leading to interaction with MAP1 LC3 family proteins and triggering mitophagy. Dephosphorylation is mediated by PGAM5. Phosphorylated by ULK1 at Ser-17 which enhances FUNDC1 binding to LC3. Ubiquitinated on Lys-119. Deubiquitinated by USP19; leading to hypoxia-induced DRP1 oligomerization and GTPase activity.

Domain organisation. The YXXL motif mediates the interaction with MAP1 LC3 family proteins MAP1LC3A, MAP1LC3B and GABARAP.

Similarity. Belongs to the FUN14 family.

RefSeq proteins (1): NP_776155* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007014	FUN14	Family

Pfam: PF04930

UniProt features (23 total): mutagenesis site 8, topological domain 4, modified residue 3, transmembrane region 3, chain 1, cross-link 1, sequence variant 1, strand 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5GMV	X-RAY DIFFRACTION	2.25
2N9X	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVP5-F1	74.35	0.18

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 (4): 17, 18, 119, 13

Mutagenesis-validated functional residues (8):

Position	Phenotype
17	almost complete loss of interaction with map1 lc3 family proteins.
18	impairs interaction with map1 lc3 family proteins.
18	abolishes phosphorylation by src.
20	significantly impaired mitophagy-inducing ability.
21	impairs interaction with map1 lc3 family proteins.
32–33	does not affect interaction with map1 lc3 family proteins.
118	loss of binding to ulk1 and inhibition of mitophagy.
119	strong loss of ubiquitination level.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8934903	Receptor Mediated Mitophagy

MSigDB gene sets: 108 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, SP3_Q3, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_MACROAUTOPHAGY, WANG_LMO4_TARGETS_DN, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_MITOCHONDRIAL_FUSION, ACEVEDO_LIVER_CANCER_UP, GOBP_ORGANELLE_FUSION, OSMAN_BLADDER_CANCER_DN, TAATTA_CHX10_01, GOCC_ORGANELLE_ENVELOPE, MIKKELSEN_ES_ICP_WITH_H3K4ME3

GO Biological Process (5): autophagy of mitochondrion (GO:0000422), mitophagy (GO:0000423), response to hypoxia (GO:0001666), mitochondrial fusion (GO:0008053), autophagy (GO:0006914)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitophagy	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
autophagy	1
autophagy of mitochondrion	1
macroautophagy	1
response to stress	1
response to decreased oxygen levels	1
mitochondrion organization	1
organelle fusion	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUNDC1	GABARAP	O95166	993
FUNDC1	MAP1LC3B	Q9GZQ8	992
FUNDC1	ITPR2	Q14571	978
FUNDC1	BNIP3L	O60238	967
FUNDC1	BNIP3	Q12983	951
FUNDC1	MAP1A	P78559	936
FUNDC1	DNM1L	O00429	936
FUNDC1	CANX	P27824	916
FUNDC1	BCL2L13	Q9BXK5	893
FUNDC1	PINK1	Q9BXM7	873
FUNDC1	F5GZY7	F5GZY7	872
FUNDC1	CD300C	Q08708	870
FUNDC1	MAP1LC3A	Q9H492	852
FUNDC1	HSPA8	P11142	842
FUNDC1	GABARAPL2	P60520	836

IntAct

65 interactions, top by confidence:

A	B	Type	Score
MAP1LC3B	FUNDC1	psi-mi:“MI:0915”(physical association)	0.780
FUNDC1	MAP1LC3B	psi-mi:“MI:0915”(physical association)	0.780
MAP1LC3B	FUNDC1	psi-mi:“MI:0403”(colocalization)	0.780
FUNDC1	YES1	psi-mi:“MI:0915”(physical association)	0.670
GABARAPL2	FUNDC1	psi-mi:“MI:0915”(physical association)	0.670
FUNDC1	EHHADH	psi-mi:“MI:0915”(physical association)	0.670
FUNDC1	MAP1LC3A	psi-mi:“MI:0915”(physical association)	0.670
YES1	FUNDC1	psi-mi:“MI:0915”(physical association)	0.670
EHHADH	FUNDC1	psi-mi:“MI:0915”(physical association)	0.670
FUNDC1	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.670
TUFM	FUNDC1	psi-mi:“MI:0915”(physical association)	0.560
CTBP2	FUNDC1	psi-mi:“MI:0915”(physical association)	0.560
SNX1	FUNDC1	psi-mi:“MI:0915”(physical association)	0.560
FUNDC1	SLC25A46	psi-mi:“MI:0915”(physical association)	0.560
MTERF3	FUNDC1	psi-mi:“MI:0915”(physical association)	0.560
SENP2	FUNDC1	psi-mi:“MI:0915”(physical association)	0.560
FUNDC1	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (54): FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Two-hybrid), FUNDC1 (Affinity Capture-MS), FUNDC1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVV1, A0M8U1, A6H6W9, A6QPI6, B1AZA5, D3ZXD8, D4ABL6, E1BWM5, E9PV86, F1QH17, G3MWR8, O43399, P01134, P01135, Q0X0A5, Q1RLU8, Q29S14, Q2PG42, Q3KNM2, Q3SZB3, Q3ZC24, Q3ZCQ8, Q4R3C7, Q5RAJ8, Q5RBB8, Q5RCT1, Q5SQY2, Q5ZJ41, Q5ZJB7, Q6AYJ2, Q6DN14, Q6GM44, Q6ZVM7, Q75Q41, Q7RTP6, Q8BR65, Q8CJ19, Q8IVP5, Q8K1Z0, Q8TF64

Diamond homologs: B1H3B1, E1BWM5, F1N5S9, Q22252, Q4RY26, Q58EA0, Q5BJS4, Q6DFJ3, Q6DH87, Q7YRC0, Q864V5, Q8IVP5, Q8MJN0, Q9BWH2, Q9D6K8, Q9DB70

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
ULK1	“up-regulates activity”	FUNDC1	phosphorylation
CSNK2A1	“down-regulates activity”	FUNDC1	phosphorylation
PGAM5	“up-regulates activity”	FUNDC1	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 27 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
Macroautophagy	5	30.4×	6e-05

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	5	66.2×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

541 predictions. Top by Δscore:

Variant	Effect	Δscore
X:44524276:C:CC	acceptor_gain	1.0000
X:44527231:TCTTA:T	donor_loss	1.0000
X:44527232:CTTAC:C	donor_loss	1.0000
X:44527233:TTAC:T	donor_loss	1.0000
X:44527234:TA:T	donor_loss	1.0000
X:44527235:A:AC	donor_gain	1.0000
X:44527235:AC:A	donor_loss	1.0000
X:44527235:ACTT:A	donor_gain	1.0000
X:44527236:C:CT	donor_gain	1.0000
X:44527236:CT:C	donor_gain	1.0000
X:44527236:CTT:C	donor_gain	1.0000
X:44527236:CTTC:C	donor_gain	1.0000
X:44527236:CTTCT:C	donor_gain	1.0000
X:44527238:T:TA	donor_gain	1.0000
X:44527361:GCAAT:G	acceptor_gain	1.0000
X:44527362:CAAT:C	acceptor_gain	1.0000
X:44527362:CAATC:C	acceptor_gain	1.0000
X:44527363:AAT:A	acceptor_gain	1.0000
X:44527364:AT:A	acceptor_gain	1.0000
X:44527366:C:CC	acceptor_gain	1.0000
X:44527366:CT:C	acceptor_loss	1.0000
X:44527369:C:CT	acceptor_gain	1.0000
X:44527370:A:T	acceptor_gain	1.0000
X:44538550:C:CT	acceptor_gain	1.0000
X:44538551:A:T	acceptor_gain	1.0000
X:44542113:C:CT	acceptor_gain	1.0000
X:44542114:A:T	acceptor_gain	1.0000
X:44542117:A:AC	acceptor_gain	1.0000
X:44524272:TTGC:T	acceptor_gain	0.9900
X:44524273:TGC:T	acceptor_gain	0.9900

AlphaMissense

1013 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:44524235:C:T	G144E	1.000
X:44538486:C:T	G81D	1.000
X:44538495:G:T	A78E	1.000
X:44538501:G:T	A76E	1.000
X:44538534:C:T	G65E	1.000
X:44541948:C:T	G61D	1.000
X:44524211:C:T	G152E	0.999
X:44524212:C:G	G152R	0.999
X:44524212:C:T	G152R	0.999
X:44524223:C:T	G148D	0.999
X:44524224:C:G	G148R	0.999
X:44524226:C:T	G147E	0.999
X:44524227:C:G	G147R	0.999
X:44524227:C:T	G147R	0.999
X:44524236:C:G	G144R	0.999
X:44524236:C:T	G144R	0.999
X:44524237:A:C	S143R	0.999
X:44524237:A:T	S143R	0.999
X:44524239:T:G	S143R	0.999
X:44527361:G:T	A89D	0.999
X:44538483:C:T	G82D	0.999
X:44538484:C:G	G82R	0.999
X:44538487:C:G	G81R	0.999
X:44538489:C:T	G80D	0.999
X:44538496:C:G	A78P	0.999
X:44538513:C:T	G72E	0.999
X:44538535:C:G	G65R	0.999
X:44538535:C:T	G65R	0.999
X:44538541:A:G	C63R	0.999
X:44541946:A:G	W62R	0.999

dbSNP variants (sampled 300 via entrez): RS1000173795 (X:44535032 G>A), RS1000210879 (X:44527686 C>T), RS1000308463 (X:44527819 GATC>G), RS1000481373 (X:44541041 G>A), RS1000680209 (X:44527155 C>G,T), RS1000782244 (X:44537974 TTTTTGTTTTG>T,TTTTTG,TTTTTGTTTTGTTTTG), RS1001062730 (X:44524724 G>A), RS1001094443 (X:44525824 G>A,T), RS1001228046 (X:44532619 C>G), RS1001506910 (X:44525639 G>A), RS1001956394 (X:44537120 T>C), RS1002316108 (X:44530498 T>C), RS1002388980 (X:44537580 G>C), RS1002628114 (X:44530839 C>T), RS1003222244 (X:44528946 C>T)

Disease associations

OMIM: gene MIM:300871 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000273_5	Personality dimensions	6.000000e-06
GCST004326_20	Facial morphology (factor 22)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004365	personality trait

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067457 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.14	Ki	72	nM	OLEANOLIC_ACID

PubChem BioAssay actives

1 with measured affinity, of 1 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
(4aS,6aR,6aS,6bR,8aR,10S,12aR,14bS)-10-hydroxy-2,2,6a,6b,9,9,12a-heptamethyl-1,3,4,5,6,6a,7,8,8a,10,11,12,13,14b-tetradecahydropicene-4a-carboxylic acid	2074089: Binding affinity to FUNDC1 (unknown origin) assessed as inhibition constant	ki	0.0720	uM

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	affects cotreatment, increases expression, decreases expression, decreases reaction	2
Chloroquine	decreases expression, decreases reaction	2
Rotenone	decreases reaction, affects reaction, increases cleavage, affects cotreatment, increases expression (+1 more)	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Berberine	increases expression, affects cotreatment, affects reaction, increases lipidation	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	affects reaction, increases lipidation, affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Phthalic Acids	decreases methylation	1
Tetrachlorodibenzodioxin	decreases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	decreases expression	1
Palmitic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	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
CHEMBL5513507	Binding	Binding affinity to FUNDC1 (unknown origin) assessed as inhibition constant	Targeting autophagy drug discovery: Targets, indications and development trends. — Eur J Med Chem

Clinical trials (associated diseases)

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